High frequency of clonal hematopoiesis in Erdheim-Chester disease
Erdheim-Chester disease (ECD) is a clonal hematopoietic disorder characterized by the accumulation of foamy histiocytes within organs (in particular, frequent retroperitoneal involvement) and a high frequency of BRAFV600E mutations. Although ECD is not commonly recognized to have overt peripheral bl...
Saved in:
| Published in | Blood Vol. 137; no. 4; pp. 485 - 492 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
28.01.2021
American Society of Hematology |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0006-4971 1528-0020 1528-0020 |
| DOI | 10.1182/blood.2020005101 |
Cover
| Abstract | Erdheim-Chester disease (ECD) is a clonal hematopoietic disorder characterized by the accumulation of foamy histiocytes within organs (in particular, frequent retroperitoneal involvement) and a high frequency of BRAFV600E mutations. Although ECD is not commonly recognized to have overt peripheral blood (PB) or bone marrow (BM) disease, we recently identified that ECD patients have a high frequency of a concomitant myeloid malignancy. We thus conducted a systematic clinical and molecular analysis of the BM from 120 ECD patients. Surprisingly, 42.5% of ECD patients (51 of 120) had clonal hematopoiesis whereas 15.8% of patients (19 of 120) developed an overt hematologic malignancy (nearly all of which were a myeloid neoplasm). The most frequently mutated genes in BM were TET2, ASXL1, DNMT3A, and NRAS. ECD patients with clonal hematopoiesis were more likely to be older (P < .0001), have retroperitoneal involvement (P = .02), and harbor a BRAFV600E mutation (P = .049) than those without clonal hematopoiesis. The presence of the TET2 mutation was associated with a BRAFV600E mutation in tissue ECD lesions (P = .0006) and TET2-mutant ECD patients were more likely to have vascular involvement than TET2 wild-type ECD patients. Clonal hematopoiesis mutations in ECD were detected in cells derived from CD34+CD38− BM progenitors and PB monocytes but less frequently present in PB B and T lymphocytes. These data identify a heretofore unrecognized high frequency of clonal hematopoiesis in ECD patients, reaffirm the development of additional high risk of myeloid neoplasms in ECD, and provide evidence of a BM-based precursor cell of origin for many patients with ECD.
•ECD patients have a very high frequency of clonal hematopoiesis and concomitant overt myeloid malignancies.•ECD patients with clonal hematopoiesis are older and have more frequent retroperitoneal involvement and BRAFV600E mutations.
[Display omitted] |
|---|---|
| AbstractList | ECD patients have a very high frequency of clonal hematopoiesis and concomitant overt myeloid malignancies.
ECD patients with clonal hematopoiesis are older and have more frequent retroperitoneal involvement and
BRAF
V600E mutations.
Erdheim-Chester disease (ECD) is a clonal hematopoietic disorder characterized by the accumulation of foamy histiocytes within organs (in particular, frequent retroperitoneal involvement) and a high frequency of
BRAF
V600E
mutations. Although ECD is not commonly recognized to have overt peripheral blood (PB) or bone marrow (BM) disease, we recently identified that ECD patients have a high frequency of a concomitant myeloid malignancy. We thus conducted a systematic clinical and molecular analysis of the BM from 120 ECD patients. Surprisingly, 42.5% of ECD patients (51 of 120) had clonal hematopoiesis whereas 15.8% of patients (19 of 120) developed an overt hematologic malignancy (nearly all of which were a myeloid neoplasm). The most frequently mutated genes in BM were
TET2
,
ASXL1
,
DNMT3A
, and
NRAS
. ECD patients with clonal hematopoiesis were more likely to be older (
P
< .0001), have retroperitoneal involvement (
P
= .02), and harbor a
BRAF
V600E
mutation (
P
= .049) than those without clonal hematopoiesis. The presence of the
TET2
mutation was associated with a
BRAF
V600E
mutation in tissue ECD lesions (
P
= .0006) and
TET2
-mutant ECD patients were more likely to have vascular involvement than
TET2
wild-type ECD patients. Clonal hematopoiesis mutations in ECD were detected in cells derived from CD34
+
CD38
−
BM progenitors and PB monocytes but less frequently present in PB B and T lymphocytes. These data identify a heretofore unrecognized high frequency of clonal hematopoiesis in ECD patients, reaffirm the development of additional high risk of myeloid neoplasms in ECD, and provide evidence of a BM-based precursor cell of origin for many patients with ECD. Erdheim-Chester disease (ECD) is a clonal hematopoietic disorder characterized by the accumulation of foamy histiocytes within organs (in particular, frequent retroperitoneal involvement) and a high frequency of BRAFV600E mutations. Although ECD is not commonly recognized to have overt peripheral blood (PB) or bone marrow (BM) disease, we recently identified that ECD patients have a high frequency of a concomitant myeloid malignancy. We thus conducted a systematic clinical and molecular analysis of the BM from 120 ECD patients. Surprisingly, 42.5% of ECD patients (51 of 120) had clonal hematopoiesis whereas 15.8% of patients (19 of 120) developed an overt hematologic malignancy (nearly all of which were a myeloid neoplasm). The most frequently mutated genes in BM were TET2, ASXL1, DNMT3A, and NRAS. ECD patients with clonal hematopoiesis were more likely to be older (P < .0001), have retroperitoneal involvement (P = .02), and harbor a BRAFV600E mutation (P = .049) than those without clonal hematopoiesis. The presence of the TET2 mutation was associated with a BRAFV600E mutation in tissue ECD lesions (P = .0006) and TET2-mutant ECD patients were more likely to have vascular involvement than TET2 wild-type ECD patients. Clonal hematopoiesis mutations in ECD were detected in cells derived from CD34+CD38− BM progenitors and PB monocytes but less frequently present in PB B and T lymphocytes. These data identify a heretofore unrecognized high frequency of clonal hematopoiesis in ECD patients, reaffirm the development of additional high risk of myeloid neoplasms in ECD, and provide evidence of a BM-based precursor cell of origin for many patients with ECD. •ECD patients have a very high frequency of clonal hematopoiesis and concomitant overt myeloid malignancies.•ECD patients with clonal hematopoiesis are older and have more frequent retroperitoneal involvement and BRAFV600E mutations. [Display omitted] Abstract Erdheim-Chester disease (ECD) is a clonal hematopoietic disorder characterized by the accumulation of foamy histiocytes within organs (in particular, frequent retroperitoneal involvement) and a high frequency of BRAFV600E mutations. Although ECD is not commonly recognized to have overt peripheral blood (PB) or bone marrow (BM) disease, we recently identified that ECD patients have a high frequency of a concomitant myeloid malignancy. We thus conducted a systematic clinical and molecular analysis of the BM from 120 ECD patients. Surprisingly, 42.5% of ECD patients (51 of 120) had clonal hematopoiesis whereas 15.8% of patients (19 of 120) developed an overt hematologic malignancy (nearly all of which were a myeloid neoplasm). The most frequently mutated genes in BM were TET2, ASXL1, DNMT3A, and NRAS. ECD patients with clonal hematopoiesis were more likely to be older (P < .0001), have retroperitoneal involvement (P = .02), and harbor a BRAFV600E mutation (P = .049) than those without clonal hematopoiesis. The presence of the TET2 mutation was associated with a BRAFV600E mutation in tissue ECD lesions (P = .0006) and TET2-mutant ECD patients were more likely to have vascular involvement than TET2 wild-type ECD patients. Clonal hematopoiesis mutations in ECD were detected in cells derived from CD34+CD38− BM progenitors and PB monocytes but less frequently present in PB B and T lymphocytes. These data identify a heretofore unrecognized high frequency of clonal hematopoiesis in ECD patients, reaffirm the development of additional high risk of myeloid neoplasms in ECD, and provide evidence of a BM-based precursor cell of origin for many patients with ECD. Erdheim-Chester disease (ECD) is a clonal hematopoietic disorder characterized by the accumulation of foamy histiocytes within organs (in particular, frequent retroperitoneal involvement) and a high frequency of BRAFV600E mutations. Although ECD is not commonly recognized to have overt peripheral blood (PB) or bone marrow (BM) disease, we recently identified that ECD patients have a high frequency of a concomitant myeloid malignancy. We thus conducted a systematic clinical and molecular analysis of the BM from 120 ECD patients. Surprisingly, 42.5% of ECD patients (51 of 120) had clonal hematopoiesis whereas 15.8% of patients (19 of 120) developed an overt hematologic malignancy (nearly all of which were a myeloid neoplasm). The most frequently mutated genes in BM were TET2, ASXL1, DNMT3A, and NRAS. ECD patients with clonal hematopoiesis were more likely to be older (P < .0001), have retroperitoneal involvement (P = .02), and harbor a BRAFV600E mutation (P = .049) than those without clonal hematopoiesis. The presence of the TET2 mutation was associated with a BRAFV600E mutation in tissue ECD lesions (P = .0006) and TET2-mutant ECD patients were more likely to have vascular involvement than TET2 wild-type ECD patients. Clonal hematopoiesis mutations in ECD were detected in cells derived from CD34+CD38− BM progenitors and PB monocytes but less frequently present in PB B and T lymphocytes. These data identify a heretofore unrecognized high frequency of clonal hematopoiesis in ECD patients, reaffirm the development of additional high risk of myeloid neoplasms in ECD, and provide evidence of a BM-based precursor cell of origin for many patients with ECD. Erdheim-Chester disease (ECD) is a clonal hematopoietic disorder characterized by the accumulation of foamy histiocytes within organs (in particular, frequent retroperitoneal involvement) and a high frequency of BRAFV600E mutations. Although ECD is not commonly recognized to have overt peripheral blood (PB) or bone marrow (BM) disease, we recently identified that ECD patients have a high frequency of a concomitant myeloid malignancy. We thus conducted a systematic clinical and molecular analysis of the BM from 120 ECD patients. Surprisingly, 42.5% of ECD patients (51 of 120) had clonal hematopoiesis whereas 15.8% of patients (19 of 120) developed an overt hematologic malignancy (nearly all of which were a myeloid neoplasm). The most frequently mutated genes in BM were TET2, ASXL1, DNMT3A, and NRAS. ECD patients with clonal hematopoiesis were more likely to be older (P < .0001), have retroperitoneal involvement (P = .02), and harbor a BRAFV600E mutation (P = .049) than those without clonal hematopoiesis. The presence of the TET2 mutation was associated with a BRAFV600E mutation in tissue ECD lesions (P = .0006) and TET2-mutant ECD patients were more likely to have vascular involvement than TET2 wild-type ECD patients. Clonal hematopoiesis mutations in ECD were detected in cells derived from CD34+CD38- BM progenitors and PB monocytes but less frequently present in PB B and T lymphocytes. These data identify a heretofore unrecognized high frequency of clonal hematopoiesis in ECD patients, reaffirm the development of additional high risk of myeloid neoplasms in ECD, and provide evidence of a BM-based precursor cell of origin for many patients with ECD. Erdheim-Chester disease (ECD) is a clonal hematopoietic disorder characterized by the accumulation of foamy histiocytes within organs (in particular, frequent retroperitoneal involvement) and a high frequency of BRAFV600E mutations. Although ECD is not commonly recognized to have overt peripheral blood (PB) or bone marrow (BM) disease, we recently identified that ECD patients have a high frequency of a concomitant myeloid malignancy. We thus conducted a systematic clinical and molecular analysis of the BM from 120 ECD patients. Surprisingly, 42.5% of ECD patients (51 of 120) had clonal hematopoiesis whereas 15.8% of patients (19 of 120) developed an overt hematologic malignancy (nearly all of which were a myeloid neoplasm). The most frequently mutated genes in BM were TET2, ASXL1, DNMT3A, and NRAS. ECD patients with clonal hematopoiesis were more likely to be older (P < .0001), have retroperitoneal involvement (P = .02), and harbor a BRAFV600E mutation (P = .049) than those without clonal hematopoiesis. The presence of the TET2 mutation was associated with a BRAFV600E mutation in tissue ECD lesions (P = .0006) and TET2-mutant ECD patients were more likely to have vascular involvement than TET2 wild-type ECD patients. Clonal hematopoiesis mutations in ECD were detected in cells derived from CD34+CD38- BM progenitors and PB monocytes but less frequently present in PB B and T lymphocytes. These data identify a heretofore unrecognized high frequency of clonal hematopoiesis in ECD patients, reaffirm the development of additional high risk of myeloid neoplasms in ECD, and provide evidence of a BM-based precursor cell of origin for many patients with ECD.Erdheim-Chester disease (ECD) is a clonal hematopoietic disorder characterized by the accumulation of foamy histiocytes within organs (in particular, frequent retroperitoneal involvement) and a high frequency of BRAFV600E mutations. Although ECD is not commonly recognized to have overt peripheral blood (PB) or bone marrow (BM) disease, we recently identified that ECD patients have a high frequency of a concomitant myeloid malignancy. We thus conducted a systematic clinical and molecular analysis of the BM from 120 ECD patients. Surprisingly, 42.5% of ECD patients (51 of 120) had clonal hematopoiesis whereas 15.8% of patients (19 of 120) developed an overt hematologic malignancy (nearly all of which were a myeloid neoplasm). The most frequently mutated genes in BM were TET2, ASXL1, DNMT3A, and NRAS. ECD patients with clonal hematopoiesis were more likely to be older (P < .0001), have retroperitoneal involvement (P = .02), and harbor a BRAFV600E mutation (P = .049) than those without clonal hematopoiesis. The presence of the TET2 mutation was associated with a BRAFV600E mutation in tissue ECD lesions (P = .0006) and TET2-mutant ECD patients were more likely to have vascular involvement than TET2 wild-type ECD patients. Clonal hematopoiesis mutations in ECD were detected in cells derived from CD34+CD38- BM progenitors and PB monocytes but less frequently present in PB B and T lymphocytes. These data identify a heretofore unrecognized high frequency of clonal hematopoiesis in ECD patients, reaffirm the development of additional high risk of myeloid neoplasms in ECD, and provide evidence of a BM-based precursor cell of origin for many patients with ECD. |
| Author | Cohen Aubart, Fleur Hélias-Rodzewicz, Zofia Della-Valle, Véronique Abdel-Wahab, Omar Haroche, Julien Charlotte, Frédéric Roos-Weil, Damien Amoura, Zahir Duployez, Nicolas Nguyen-Khac, Florence Donadieu, Jean Emile, Jean-François Maloum, Karim Lhote, Raphael Bernard, Olivier Poulain, Stéphanie Armand, Marine Marceau-Renaut, Alice |
| AuthorAffiliation | 5 Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER), UMR-S 1277, Centre Hospitalier Universitaire (CHU) Lille, INSERM, Centre National de la Recherche Scientifique (CNRS), Université de Lille, Lille, France 10 Service d’Hématologie Pédiatrique, Hôpital Trousseau, AP-HP, Paris, France; and 4 Institut de Recherche Contre le Cancer de Lille, Unité Mixte de Recherche (UMR) 9020, and 1 Service de Médecine Interne 2, Centre National de Référence Histiocytoses, and 6 EA4340, Université Versailles-Saint Quentin, Versailles, France 12 Leukemia Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 11 Human Oncology and Pathogenesis Program and 2 Service d’Hématologie, Hôpital de la Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, France 9 Service d’Hématologie Biologique, Hôpital de la Pitié-Salpêtrière, AP-HP, Sorbonne Université, Paris, France 3 Gustave Roussy, Unité 1170, INSERM, Villejuif, France 7 Départ |
| AuthorAffiliation_xml | – name: 8 Service d’Anatomopathologie and – name: 9 Service d’Hématologie Biologique, Hôpital de la Pitié-Salpêtrière, AP-HP, Sorbonne Université, Paris, France – name: 6 EA4340, Université Versailles-Saint Quentin, Versailles, France – name: 2 Service d’Hématologie, Hôpital de la Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, France – name: 10 Service d’Hématologie Pédiatrique, Hôpital Trousseau, AP-HP, Paris, France; and – name: 12 Leukemia Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY – name: 11 Human Oncology and Pathogenesis Program and – name: 5 Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER), UMR-S 1277, Centre Hospitalier Universitaire (CHU) Lille, INSERM, Centre National de la Recherche Scientifique (CNRS), Université de Lille, Lille, France – name: 4 Institut de Recherche Contre le Cancer de Lille, Unité Mixte de Recherche (UMR) 9020, and – name: 7 Département de Pathologie, Hôpital Ambroise Paré, AP-HP, Boulogne, France – name: 1 Service de Médecine Interne 2, Centre National de Référence Histiocytoses, and – name: 3 Gustave Roussy, Unité 1170, INSERM, Villejuif, France |
| Author_xml | – sequence: 1 givenname: Fleur orcidid: 0000-0002-7610-4995 surname: Cohen Aubart fullname: Cohen Aubart, Fleur email: fleur.cohen@aphp.fr organization: Service de Médecine Interne 2, Centre National de Référence Histiocytoses, Paris, France – sequence: 2 givenname: Damien orcidid: 0000-0002-7767-755X surname: Roos-Weil fullname: Roos-Weil, Damien organization: Service d'Hématologie, Hôpital de la Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, France – sequence: 3 givenname: Marine surname: Armand fullname: Armand, Marine organization: Gustave Roussy, Unité 1170, INSERM, Villejuif, France – sequence: 4 givenname: Alice surname: Marceau-Renaut fullname: Marceau-Renaut, Alice organization: Institut de Recherche Contre le Cancer de Lille, Unité Mixte de Recherche (UMR) 9020, Lille, France – sequence: 5 givenname: Jean-François orcidid: 0000-0002-6073-4466 surname: Emile fullname: Emile, Jean-François organization: EA4340, Université Versailles-Saint Quentin, Versailles, France – sequence: 6 givenname: Nicolas orcidid: 0000-0002-3927-1022 surname: Duployez fullname: Duployez, Nicolas organization: Institut de Recherche Contre le Cancer de Lille, Unité Mixte de Recherche (UMR) 9020, Lille, France – sequence: 7 givenname: Frédéric orcidid: 0000-0003-2803-6606 surname: Charlotte fullname: Charlotte, Frédéric organization: Service d'Anatomopathologie, Paris, France – sequence: 8 givenname: Stéphanie surname: Poulain fullname: Poulain, Stéphanie organization: Institut de Recherche Contre le Cancer de Lille, Unité Mixte de Recherche (UMR) 9020, Lille, France – sequence: 9 givenname: Raphael surname: Lhote fullname: Lhote, Raphael organization: Service de Médecine Interne 2, Centre National de Référence Histiocytoses, Paris, France – sequence: 10 givenname: Zofia surname: Hélias-Rodzewicz fullname: Hélias-Rodzewicz, Zofia organization: EA4340, Université Versailles-Saint Quentin, Versailles, France – sequence: 11 givenname: Véronique surname: Della-Valle fullname: Della-Valle, Véronique organization: Gustave Roussy, Unité 1170, INSERM, Villejuif, France – sequence: 12 givenname: Olivier surname: Bernard fullname: Bernard, Olivier organization: Gustave Roussy, Unité 1170, INSERM, Villejuif, France – sequence: 13 givenname: Karim orcidid: 0000-0001-8864-4801 surname: Maloum fullname: Maloum, Karim organization: Service d'Hématologie Biologique, Hôpital de la Pitié-Salpêtrière, AP-HP, Sorbonne Université, Paris, France – sequence: 14 givenname: Florence orcidid: 0000-0003-3107-6668 surname: Nguyen-Khac fullname: Nguyen-Khac, Florence organization: Service d'Hématologie Biologique, Hôpital de la Pitié-Salpêtrière, AP-HP, Sorbonne Université, Paris, France – sequence: 15 givenname: Jean orcidid: 0000-0002-4485-146X surname: Donadieu fullname: Donadieu, Jean organization: Service d'Hématologie Pédiatrique, Hôpital Trousseau, AP-HP, Paris, France – sequence: 16 givenname: Zahir orcidid: 0000-0003-0292-9043 surname: Amoura fullname: Amoura, Zahir organization: Service de Médecine Interne 2, Centre National de Référence Histiocytoses, Paris, France – sequence: 17 givenname: Omar surname: Abdel-Wahab fullname: Abdel-Wahab, Omar organization: Human Oncology and Pathogenesis Program, New York, NY – sequence: 18 givenname: Julien surname: Haroche fullname: Haroche, Julien organization: Service de Médecine Interne 2, Centre National de Référence Histiocytoses, Paris, France |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/33067622$$D View this record in MEDLINE/PubMed https://hal.science/hal-03994724$$DView record in HAL |
| BookMark | eNp9kc1v1DAQxS1URLctd04oRzik-DsOB6TVqu1WWqmX3i3HmTSDknixsyv1v8fLlgKV6MnS8_s9j-edkZMpTEDIB0YvGTP8SzOE0F5yyimlilH2hiyY4qakWTkhi6zqUtYVOyVnKX2nlEnB1TtyKgTVleZ8QZZrfOiLLsKPHUz-sQhd4YcwuaHoYXRz2AaEhKnAqbiKbQ84lqse0gyxaDGBS3BB3nZuSPD-6Twn99dX96t1ubm7uV0tN6VXsppLrzuv29pTxoB2TMtOSQbG-Qak9pUWSoIQTVMb7Z2pZc0bo1zbcMFUI7U4J9-OsdtdM0LrYZqjG-w24ujiow0O7b83E_b2IeytUUqJqsoBn48B_QtsvdzYg0ZFXcuKyz3L3k9Pj8WQF5NmO2LyMAxugrBLlkvFjDSSHmI__j3Xc_LvFWcDPRp8DClF6J4tjNpDi_ZXi_ZPixnRLxCPs5sxHH6Gw2vg1yMIuYg9QrTJY-4VWozgZ9sG_D_8E9LgtRI |
| CitedBy_id | crossref_primary_10_1002_ajh_26441 crossref_primary_10_1016_j_leukres_2023_107032 crossref_primary_10_1016_j_ajo_2024_10_030 crossref_primary_10_1097_MD_0000000000033846 crossref_primary_10_1002_art_42673 crossref_primary_10_1007_s00277_024_05842_5 crossref_primary_10_1111_cup_14732 crossref_primary_10_1016_j_prp_2023_154548 crossref_primary_10_1159_000530940 crossref_primary_10_1182_blood_2020008965 crossref_primary_10_1038_s41375_021_01472_2 crossref_primary_10_1093_eurheartj_ehac741 crossref_primary_10_1016_j_neuron_2025_02_007 crossref_primary_10_1182_bloodadvances_2023010706 crossref_primary_10_1016_j_bj_2021_06_004 crossref_primary_10_1200_PO_24_00471 crossref_primary_10_1155_2023_4683188 crossref_primary_10_3389_fmed_2021_678456 crossref_primary_10_1111_his_15127 crossref_primary_10_1016_j_survophthal_2021_05_013 crossref_primary_10_1007_s11523_024_01080_x crossref_primary_10_1038_s41375_022_01613_1 crossref_primary_10_1080_10428194_2024_2404247 crossref_primary_10_1111_cas_15094 crossref_primary_10_3389_fcvm_2022_876294 crossref_primary_10_1016_j_molmed_2022_03_002 crossref_primary_10_1001_jamaoncol_2025_0011 crossref_primary_10_1016_j_ejca_2022_03_036 crossref_primary_10_1016_j_clim_2024_110299 crossref_primary_10_1053_j_seminhematol_2022_07_003 crossref_primary_10_1001_jamaoncol_2024_4748 crossref_primary_10_1080_08880018_2022_2029988 crossref_primary_10_1016_j_bneo_2025_100074 crossref_primary_10_1038_s41572_021_00307_9 crossref_primary_10_1002_path_6345 crossref_primary_10_3324_haematol_2023_282739 crossref_primary_10_1002_ajh_26938 crossref_primary_10_1016_j_annpat_2023_01_005 crossref_primary_10_1182_blood_2022015854 crossref_primary_10_1038_s41375_021_01439_3 |
| Cites_doi | 10.1056/NEJMoa1409405 10.1126/science.aag1381 10.1182/blood-2017-01-761718 10.1182/blood-2015-03-631747 10.1002/ajh.25055 10.1182/blood-2017-02-769869 10.1182/blood-2012-05-430140 10.1056/NEJMoa1408617 10.1182/blood-2016-12-757823 10.1586/1744666X.2015.1060857 10.1056/NEJMoa1701719 10.1158/2159-8290.CD-15-0913 10.1182/blood.2019003507 10.1182/blood-2014-03-561381 10.1038/nm.3733 10.1182/blood-2014-04-570937 10.1038/s41591-018-0064-0 10.1182/blood-2016-12-757377 |
| ContentType | Journal Article |
| Copyright | 2021 American Society of Hematology 2021 by The American Society of Hematology. Distributed under a Creative Commons Attribution 4.0 International License 2021 by The American Society of Hematology 2021 |
| Copyright_xml | – notice: 2021 American Society of Hematology – notice: 2021 by The American Society of Hematology. – notice: Distributed under a Creative Commons Attribution 4.0 International License – notice: 2021 by The American Society of Hematology 2021 |
| DBID | AAYXX CITATION CGR CUY CVF ECM EIF NPM 7X8 1XC 5PM |
| DOI | 10.1182/blood.2020005101 |
| DatabaseName | CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed MEDLINE - Academic Hyper Article en Ligne (HAL) PubMed Central (Full Participant titles) |
| DatabaseTitle | CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) MEDLINE - Academic |
| DatabaseTitleList | CrossRef MEDLINE MEDLINE - Academic |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine Chemistry Biology Anatomy & Physiology |
| EISSN | 1528-0020 |
| EndPage | 492 |
| ExternalDocumentID | PMC8555377 oai_HAL_hal_03994724v1 33067622 10_1182_blood_2020005101 S0006497121001439 |
| Genre | Journal Article |
| GrantInformation_xml | – fundername: NCI NIH HHS grantid: P30 CA008748 |
| GroupedDBID | --- -~X .55 1CY 23N 2WC 34G 39C 4.4 53G 5GY 5RE 5VS 6J9 AAEDW AAXUO ABOCM ABVKL ACGFO ADBBV AENEX AFOSN AHPSJ ALMA_UNASSIGNED_HOLDINGS AMRAJ BAWUL BTFSW CS3 DIK DU5 E3Z EBS EJD EX3 F5P FDB FRP GS5 GX1 IH2 K-O KQ8 L7B LSO MJL N9A OK1 P2P R.V RHF RHI ROL SJN THE TR2 TWZ W2D W8F WH7 WOQ WOW X7M YHG YKV ZA5 0R~ AALRI AAYXX ACVFH ADCNI ADVLN AEUPX AFETI AFPUW AGCQF AIGII AITUG AKBMS AKRWK AKYEP CITATION H13 CGR CUY CVF ECM EFKBS EIF NPM 7X8 1XC 5PM |
| ID | FETCH-LOGICAL-c547t-c6fc6d9c011e0f164f541e8acbe46c76354e33bb986ca89492b85adb2315b463 |
| ISSN | 0006-4971 1528-0020 |
| IngestDate | Thu Aug 21 13:33:50 EDT 2025 Fri Sep 12 12:46:12 EDT 2025 Sun Sep 28 00:07:31 EDT 2025 Mon Jul 21 05:55:11 EDT 2025 Tue Jul 01 00:18:49 EDT 2025 Thu Apr 24 23:09:03 EDT 2025 Fri Feb 23 02:43:55 EST 2024 |
| IsDoiOpenAccess | false |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 4 |
| Language | English |
| License | 2021 by The American Society of Hematology. Distributed under a Creative Commons Attribution 4.0 International License: http://creativecommons.org/licenses/by/4.0 |
| LinkModel | OpenURL |
| MergedId | FETCHMERGED-LOGICAL-c547t-c6fc6d9c011e0f164f541e8acbe46c76354e33bb986ca89492b85adb2315b463 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 D.R.-W., M.A., and A.M.-R. contributed equally to this work. |
| ORCID | 0000-0002-3927-1022 0000-0003-0292-9043 0000-0002-7767-755X 0000-0002-6073-4466 0000-0001-8864-4801 0000-0002-7610-4995 0000-0003-2803-6606 0000-0003-3107-6668 0000-0002-4485-146X |
| OpenAccessLink | https://ashpublications.org/blood/article-pdf/137/4/485/1798271/bloodbld2020005101.pdf |
| PMID | 33067622 |
| PQID | 2451848407 |
| PQPubID | 23479 |
| PageCount | 8 |
| ParticipantIDs | pubmedcentral_primary_oai_pubmedcentral_nih_gov_8555377 hal_primary_oai_HAL_hal_03994724v1 proquest_miscellaneous_2451848407 pubmed_primary_33067622 crossref_primary_10_1182_blood_2020005101 crossref_citationtrail_10_1182_blood_2020005101 elsevier_sciencedirect_doi_10_1182_blood_2020005101 |
| ProviderPackageCode | CITATION AAYXX |
| PublicationCentury | 2000 |
| PublicationDate | 2021-01-28 20210128 |
| PublicationDateYYYYMMDD | 2021-01-28 |
| PublicationDate_xml | – month: 01 year: 2021 text: 2021-01-28 day: 28 |
| PublicationDecade | 2020 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States – name: Washington, DC |
| PublicationTitle | Blood |
| PublicationTitleAlternate | Blood |
| PublicationYear | 2021 |
| Publisher | Elsevier Inc American Society of Hematology |
| Publisher_xml | – name: Elsevier Inc – name: American Society of Hematology |
| References | Jaiswal, Natarajan, Silver (bib17) 2017; 377 Fuster, MacLauchlan, Zuriaga (bib18) 2017; 355 Zink, Stacey, Norddahl (bib16) 2017; 130 Haroche, Cohen-Aubart, Charlotte (bib5) 2015; 11 Milne, Bigley, Bacon (bib12) 2017; 130 Genovese, Kähler, Handsaker (bib10) 2014; 371 Steensma, Bejar, Jaiswal (bib7) 2015; 126 Diamond, Dagna, Hyman (bib1) 2014; 124 Xie, Lu, Wang (bib9) 2014; 20 Papo, Diamond, Cohen-Aubart (bib6) 2017; 130 Durham, Roos-Weil, Baillou (bib15) 2017; 130 Jaiswal, Fontanillas, Flannick (bib8) 2014; 371 Nahrendorf (bib11) 2018; 24 Emile, Diamond, Hélias-Rodzewicz (bib13) 2014; 124 Haroche, Charlotte, Arnaud (bib3) 2012; 120 Diamond, Durham, Haroche (bib4) 2016; 6 Cohen-Aubart, Emile, Carrat (bib14) 2018; 93 Goyal, Heaney, Collin (bib2) 2020; 135 Milne (2021012816243400900_B12) 2017; 130 Nahrendorf (2021012816243400900_B11) 2018; 24 Genovese (2021012816243400900_B10) 2014; 371 Cohen-Aubart (2021012816243400900_B14) 2018; 93 Emile (2021012816243400900_B13) 2014; 124 Papo (2021012816243400900_B6) 2017; 130 Jaiswal (2021012816243400900_B17) 2017; 377 Durham (2021012816243400900_B15) 2017; 130 Diamond (2021012816243400900_B1) 2014; 124 Goyal (2021012816243400900_B2) 2020; 135 Haroche (2021012816243400900_B3) 2012; 120 Steensma (2021012816243400900_B7) 2015; 126 Xie (2021012816243400900_B9) 2014; 20 Haroche (2021012816243400900_B5) 2015; 11 Jaiswal (2021012816243400900_B8) 2014; 371 Fuster (2021012816243400900_B18) 2017; 355 Diamond (2021012816243400900_B4) 2016; 6 Zink (2021012816243400900_B16) 2017; 130 33507299 - Blood. 2021 Jan 28;137(4):434-436 |
| References_xml | – volume: 377 start-page: 111 year: 2017 end-page: 121 ident: bib17 article-title: Clonal hematopoiesis and risk of atherosclerotic cardiovascular disease publication-title: N Engl J Med – volume: 130 start-page: 1007 year: 2017 end-page: 1013 ident: bib6 article-title: High prevalence of myeloid neoplasms in adults with non-Langerhans cell histiocytosis publication-title: Blood – volume: 355 start-page: 842 year: 2017 end-page: 847 ident: bib18 article-title: Clonal hematopoiesis associated with TET2 deficiency accelerates atherosclerosis development in mice publication-title: Science – volume: 6 start-page: 154 year: 2016 end-page: 165 ident: bib4 article-title: Diverse and targetable kinase alterations drive histiocytic neoplasms publication-title: Cancer Discov – volume: 124 start-page: 3016 year: 2014 end-page: 3019 ident: bib13 article-title: Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease publication-title: Blood – volume: 11 start-page: 1033 year: 2015 end-page: 1042 ident: bib5 article-title: The histiocytosis Erdheim-Chester disease is an inflammatory myeloid neoplasm publication-title: Expert Rev Clin Immunol – volume: 124 start-page: 483 year: 2014 end-page: 492 ident: bib1 article-title: Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease publication-title: Blood – volume: 20 start-page: 1472 year: 2014 end-page: 1478 ident: bib9 article-title: Age-related mutations associated with clonal hematopoietic expansion and malignancies publication-title: Nat Med – volume: 130 start-page: 167 year: 2017 end-page: 175 ident: bib12 article-title: Hematopoietic origin of Langerhans cell histiocytosis and Erdheim-Chester disease in adults publication-title: Blood – volume: 24 start-page: 711 year: 2018 end-page: 720 ident: bib11 article-title: Myeloid cell contributions to cardiovascular health and disease publication-title: Nat Med – volume: 371 start-page: 2488 year: 2014 end-page: 2498 ident: bib8 article-title: Age-related clonal hematopoiesis associated with adverse outcomes publication-title: N Engl J Med – volume: 120 start-page: 2700 year: 2012 end-page: 2703 ident: bib3 article-title: High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses publication-title: Blood – volume: 130 start-page: 742 year: 2017 end-page: 752 ident: bib16 article-title: Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly publication-title: Blood – volume: 135 start-page: 1929 year: 2020 end-page: 1945 ident: bib2 article-title: Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era publication-title: Blood – volume: 371 start-page: 2477 year: 2014 end-page: 2487 ident: bib10 article-title: Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence publication-title: N Engl J Med – volume: 93 start-page: E114 year: 2018 end-page: E117 ident: bib14 article-title: Phenotypes and survival in Erdheim-Chester disease: results from a 165-patient cohort publication-title: Am J Hematol – volume: 126 start-page: 9 year: 2015 end-page: 16 ident: bib7 article-title: Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes publication-title: Blood – volume: 130 start-page: 176 year: 2017 end-page: 180 ident: bib15 article-title: Functional evidence for derivation of systemic histiocytic neoplasms from hematopoietic stem/progenitor cells publication-title: Blood – volume: 371 start-page: 2477 issue: 26 year: 2014 ident: 2021012816243400900_B10 article-title: Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence publication-title: N Engl J Med doi: 10.1056/NEJMoa1409405 – volume: 355 start-page: 842 issue: 6327 year: 2017 ident: 2021012816243400900_B18 article-title: Clonal hematopoiesis associated with TET2 deficiency accelerates atherosclerosis development in mice publication-title: Science doi: 10.1126/science.aag1381 – volume: 130 start-page: 1007 issue: 8 year: 2017 ident: 2021012816243400900_B6 article-title: High prevalence of myeloid neoplasms in adults with non-Langerhans cell histiocytosis publication-title: Blood doi: 10.1182/blood-2017-01-761718 – volume: 126 start-page: 9 issue: 1 year: 2015 ident: 2021012816243400900_B7 article-title: Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes publication-title: Blood doi: 10.1182/blood-2015-03-631747 – volume: 93 start-page: E114 issue: 5 year: 2018 ident: 2021012816243400900_B14 article-title: Phenotypes and survival in Erdheim-Chester disease: results from a 165-patient cohort publication-title: Am J Hematol doi: 10.1002/ajh.25055 – volume: 130 start-page: 742 issue: 6 year: 2017 ident: 2021012816243400900_B16 article-title: Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly publication-title: Blood doi: 10.1182/blood-2017-02-769869 – volume: 120 start-page: 2700 issue: 13 year: 2012 ident: 2021012816243400900_B3 article-title: High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses publication-title: Blood doi: 10.1182/blood-2012-05-430140 – volume: 371 start-page: 2488 issue: 26 year: 2014 ident: 2021012816243400900_B8 article-title: Age-related clonal hematopoiesis associated with adverse outcomes publication-title: N Engl J Med doi: 10.1056/NEJMoa1408617 – volume: 130 start-page: 167 issue: 2 year: 2017 ident: 2021012816243400900_B12 article-title: Hematopoietic origin of Langerhans cell histiocytosis and Erdheim-Chester disease in adults publication-title: Blood doi: 10.1182/blood-2016-12-757823 – volume: 11 start-page: 1033 issue: 9 year: 2015 ident: 2021012816243400900_B5 article-title: The histiocytosis Erdheim-Chester disease is an inflammatory myeloid neoplasm publication-title: Expert Rev Clin Immunol doi: 10.1586/1744666X.2015.1060857 – volume: 377 start-page: 111 issue: 2 year: 2017 ident: 2021012816243400900_B17 article-title: Clonal hematopoiesis and risk of atherosclerotic cardiovascular disease publication-title: N Engl J Med doi: 10.1056/NEJMoa1701719 – volume: 6 start-page: 154 issue: 2 year: 2016 ident: 2021012816243400900_B4 article-title: Diverse and targetable kinase alterations drive histiocytic neoplasms publication-title: Cancer Discov doi: 10.1158/2159-8290.CD-15-0913 – volume: 135 start-page: 1929 issue: 22 year: 2020 ident: 2021012816243400900_B2 article-title: Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era publication-title: Blood doi: 10.1182/blood.2019003507 – volume: 124 start-page: 483 issue: 4 year: 2014 ident: 2021012816243400900_B1 article-title: Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease publication-title: Blood doi: 10.1182/blood-2014-03-561381 – volume: 20 start-page: 1472 issue: 12 year: 2014 ident: 2021012816243400900_B9 article-title: Age-related mutations associated with clonal hematopoietic expansion and malignancies publication-title: Nat Med doi: 10.1038/nm.3733 – volume: 124 start-page: 3016 issue: 19 year: 2014 ident: 2021012816243400900_B13 article-title: Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease publication-title: Blood doi: 10.1182/blood-2014-04-570937 – volume: 24 start-page: 711 issue: 6 year: 2018 ident: 2021012816243400900_B11 article-title: Myeloid cell contributions to cardiovascular health and disease publication-title: Nat Med doi: 10.1038/s41591-018-0064-0 – volume: 130 start-page: 176 issue: 2 year: 2017 ident: 2021012816243400900_B15 article-title: Functional evidence for derivation of systemic histiocytic neoplasms from hematopoietic stem/progenitor cells publication-title: Blood doi: 10.1182/blood-2016-12-757377 – reference: 33507299 - Blood. 2021 Jan 28;137(4):434-436 |
| SSID | ssj0014325 |
| Score | 2.5303097 |
| Snippet | Erdheim-Chester disease (ECD) is a clonal hematopoietic disorder characterized by the accumulation of foamy histiocytes within organs (in particular, frequent... Abstract Erdheim-Chester disease (ECD) is a clonal hematopoietic disorder characterized by the accumulation of foamy histiocytes within organs (in particular,... ECD patients have a very high frequency of clonal hematopoiesis and concomitant overt myeloid malignancies. ECD patients with clonal hematopoiesis are older... |
| SourceID | pubmedcentral hal proquest pubmed crossref elsevier |
| SourceType | Open Access Repository Aggregation Database Index Database Enrichment Source Publisher |
| StartPage | 485 |
| SubjectTerms | Abnormal Karyotype Adult Age Factors Aged Bone Marrow - pathology Cell Transformation, Neoplastic - genetics Clonal Hematopoiesis - genetics Dioxygenases Disease Progression DNA-Binding Proteins - genetics Erdheim-Chester Disease - genetics Erdheim-Chester Disease - physiopathology Exons - genetics Female Genes, Neoplasm Hematopoiesis and Stem Cells Humans Immunology Leukemia, Myeloid - genetics Life Sciences Male Middle Aged Multiple Myeloma - genetics Mutation Myelodysplastic Syndromes - genetics Neoplasm Proteins - genetics Neoplastic Stem Cells - pathology Organ Specificity Proto-Oncogene Proteins - genetics Proto-Oncogene Proteins B-raf - genetics |
| Title | High frequency of clonal hematopoiesis in Erdheim-Chester disease |
| URI | https://dx.doi.org/10.1182/blood.2020005101 https://www.ncbi.nlm.nih.gov/pubmed/33067622 https://www.proquest.com/docview/2451848407 https://hal.science/hal-03994724 https://pubmed.ncbi.nlm.nih.gov/PMC8555377 |
| Volume | 137 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1bb9MwFLa6IcZeEHRcyk0GISQ0hWWOnaSPoQxViCKYhthbZLuOWqlNqq5Bgj_BX-b4ljYdTLCXKEpiR8n35eQcnxtCLwVAKUki4PseRwHYX0kg-rEKIsmTmHMGmpJe0B99iodf6Ydzdt7p_NqIWqpX4o38-ce8kuugCscAV50l-x_INpPCAdgHfGELCMP2nzDWQRqHxdJGQxtXuZyZlT1TibVaVGAGT03A68lyPFHTeTCw7bFafhnv0p25vvFN1sZhVmt_v9FvZ6puwnhPq-oi-OZWj9_x-XSdTpbpHISxSwLacNmPdEolr4NTVfLaVjqYuag7v-ZA9IKDz-Feh_lr-eMiS7XPwTxY4wnw4jbWLewseZSTsLokdkjClgi2hV8c1-iGQKW2oY_7N1PbN--y2E91GVkT6g8mPwmtqNm8FIBbzA0NIm0kxTYZeqvU9ufRIGWMRUmyg26QBJQx7eX_snZL0YjYlhjuubzfOyVH2zffR3v-Tn9TeXYmOvb2smGzHZ-7ofCc3UG3naWCM0u7u6ijyi46yEp4__Mf-BU2scMGii66-dbv3Rr4DoJdtDdygRsHKNNUxQ1VcVVgS1XcoiqelniLqthR9R46e39yNhgGrntHIBlNVoGMCxmP-xJ-ICoswCovGD1WKZdC0VjqOohURZEQ_TSWPO0DtCJlfCzA4GCCxtF9tFtWpXqIcL9QImacJ1xIykKVCkUEAYkiC8rB4O2hI_9-c-kq2-sGK7PcWLgpyQ04-RqcHnrdjFjYqi5XXBt5yHKnlVptMwf2XTHqBaDbTK6LuA-zj7k-FoJNQBNCv8NFzz34OUCjXXW8VFV9kRPKjlOa0jDpoQeWDM1cnlY9lLRo0rpZ-0w5nZjK8Y7dj6498jHaX8uDJ2h3tazVU9DKV-KZ-VJ-A-wi4gQ |
| linkProvider | Colorado Alliance of Research Libraries |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=High+frequency+of+clonal+hematopoiesis+in+Erdheim-Chester+disease&rft.jtitle=Blood&rft.au=Cohen+Aubart%2C+Fleur&rft.au=Roos-Weil%2C+Damien&rft.au=Armand%2C+Marine&rft.au=Marceau-Renaut%2C+Alice&rft.date=2021-01-28&rft.pub=American+Society+of+Hematology&rft.issn=0006-4971&rft.eissn=1528-0020&rft.volume=137&rft.issue=4&rft.spage=485&rft.epage=492&rft_id=info:doi/10.1182%2Fblood.2020005101&rft_id=info%3Apmid%2F33067622&rft.externalDocID=PMC8555377 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0006-4971&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0006-4971&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0006-4971&client=summon |