DICER1症候群に対する遺伝学的検査とサーベイランス

DICER1症候群は、胸膜肺芽腫をはじめ、嚢胞性腎腫、結節性甲状腺腫、甲状腺癌、卵巣セルトリ・ライディッヒ腫瘍、子宮頸部の横紋筋肉腫、まれな脳腫瘍などさまざまな臓器に及ぶ腫瘍の発症に関連する疾患である。小児期からの遺伝学的検査とサーベイランスが推奨される遺伝性腫瘍の1つであり、欧米ではその指針や提言がまとめられている。頻度は高くはないが、がんゲノム医療の普及による関心の高まりや、近年あらたにDICER1関連腫瘍と認識される病型も増えていることから、本邦でも本疾患の鑑別や診療にあたる機会は増えつつある。本稿では、DICER1症候群の遺伝学的検査やサーベイランスを中心に解説する。...

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Published in遺伝性腫瘍 Vol. 22; no. 3; pp. 61 - 67
Main Authors 加藤, 元博, 中野, 嘉子
Format Journal Article
LanguageJapanese
Published 一般社団法人 日本遺伝性腫瘍学会 15.02.2023
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ISSN2435-6808
DOI10.18976/jsht.22.3_61

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Abstract DICER1症候群は、胸膜肺芽腫をはじめ、嚢胞性腎腫、結節性甲状腺腫、甲状腺癌、卵巣セルトリ・ライディッヒ腫瘍、子宮頸部の横紋筋肉腫、まれな脳腫瘍などさまざまな臓器に及ぶ腫瘍の発症に関連する疾患である。小児期からの遺伝学的検査とサーベイランスが推奨される遺伝性腫瘍の1つであり、欧米ではその指針や提言がまとめられている。頻度は高くはないが、がんゲノム医療の普及による関心の高まりや、近年あらたにDICER1関連腫瘍と認識される病型も増えていることから、本邦でも本疾患の鑑別や診療にあたる機会は増えつつある。本稿では、DICER1症候群の遺伝学的検査やサーベイランスを中心に解説する。
AbstractList DICER1症候群は、胸膜肺芽腫をはじめ、嚢胞性腎腫、結節性甲状腺腫、甲状腺癌、卵巣セルトリ・ライディッヒ腫瘍、子宮頸部の横紋筋肉腫、まれな脳腫瘍などさまざまな臓器に及ぶ腫瘍の発症に関連する疾患である。小児期からの遺伝学的検査とサーベイランスが推奨される遺伝性腫瘍の1つであり、欧米ではその指針や提言がまとめられている。頻度は高くはないが、がんゲノム医療の普及による関心の高まりや、近年あらたにDICER1関連腫瘍と認識される病型も増えていることから、本邦でも本疾患の鑑別や診療にあたる機会は増えつつある。本稿では、DICER1症候群の遺伝学的検査やサーベイランスを中心に解説する。
Author 加藤, 元博
中野, 嘉子
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  organization: 国立がん研究センター中央病院 遺伝子診療部門
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References 12) Yang K, Wang J, Kanwar N, et al.: A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL. Brain Tumor Pathol. 2022; Epub ahead of print.
27) Durno C, Ercan AB, Bianchi V, et al.: Survival benefit for individuals with constitutional mismatch repair deficiency undergoing surveillance. J Clin Oncol. 2021; 39: 2779–2290.
26) Villani A, Shore A, Wasserman JD, et al.: Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. Lancet Oncol. 2016; 17: 1295–1305.
33) Stewart DR, Best AF, Williams GM, et al.: Neoplasm risk among individuals with a pathogenic germline variant in DICER1. J Clin Oncol. 2019; 37: 668–676.
41) de Kock L, Priest JR, Foulkes WD, Alexandrescu S. :An update on the central nervous system manifestations of DICER1 syndrome. Acta Neuropathol. 2020; 139: 689–701.
1) Foulkes WD, Priest JR, Duchaine TF.: DICER1: mutations, microRNAs and mechanisms. Nat Rev Cancer. 2014; 14: 662–672.
11) Terry W, Carlisle EM, Mallinger P, et al.: Thoracic Sertoli-Leydig cell tumor;an alternative type of pleuropulmonary blastoma associated with DICER1 variation. Pediatr Blood Cancer. 2021; 68: e29284.
3) Guillerman RP, Foulkes WD, Priest JR.: Imaging of DICER1 syndrome. Pediatr Radiol. 2019; 49: 1488–1505.
4) 中野嘉子:DICER1症候群と遺伝性腫瘍.遺伝性腫瘍 2020; 20: 124-130.
6) Hill DA, Ivanovich J, Priest JR, et al.: DICER1 mutations in familial pleuropulmonary blastoma. Science. 2009; 325: 965.
19) Pontén E, Frisk S, Taylan F, et al.: A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase Ⅲa domain of DICER1. J Med Genet. 2022; 59: 141–146.
36) Chong A-S, Nikiforov YE, Condello V, et al.:Prevalence and spectrum of DICER1 mutations in adult-onset thyroid nodules with indeterminate cytology. J Clin Endocrinol Metab. 2021; 106: 968–977.
22) Sabbaghian N, Srivastava A, Hamel N, et al.: Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides. Eur J Hum Genet. 2014; 22: 564–567.
46) Huryn LA, Turriff A, Harney LA, et al.: DICER1 syndrome: characterization of the ocular phenotype in a family-based cohort study. Ophthalmology. 2019; 126: 296–304.
7) de Kock L, Geoffrion D, Rivera B, et al.: Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. Genes Chromosomes Cancer. 2018; 57: 223–230.
40) de Kock L, Sabbaghian N, Plourde F, et al.: Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. Acta Neuropathol. 2014; 128: 111–122.
31) Messinger YH, Stewart DR, Priest JR, et al.: Pleuropulmonary blastoma: a report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry. Cancer. 2015; 121: 276–285.
38) Merideth MA, Harney LA, Vyas N, et al.:Gynecologic and reproductive health in patients with pathogenic germline variants in DICER1. Gynecol Oncol. 2020; 156: 647–653.
15) Schultz KAP, Rednam SP, Kamihara J, et al.: PTEN, DICER1, FH, and their associated tumor susceptibility syndromes;clinical features, genetics, and surveillance recommendations in childhood. Clin Cancer Res. 2017; 23: e76–82.
29) van Engelen K, Villani A, Wasserman JD, et al.: DICER1 syndrome;approach to testing and management at a large pediatric tertiary care center. Pediatr Blood Cancer. 2018; 65(1).DOI;10.1002/pbc.26702
9) Warren M, Hiemenz MC, Schmidt R, et al.: Expanding the spectrum of DICER1-associated sarcomas. Mod Pathol. 2020; 33: 164–174.
32) Bisogno G, Sarnacki S, Stachowicz-Stencel T, et al. :Pleuropulmonary blastoma in children and adolescents;The EXPeRT/PARTNER diagnostic and therapeutic recommendations. Pediatr Blood Cancer. 2021; 68 Suppl 4: e29045.
16) Brenneman M, Field A, Yang J, et al.: Temporal order of RNase Ⅲb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome;a unique variant of the two-hit tumor suppression model. F1000Res. 2015; 4: 214.
35) Gullo I, Batista R, Rodrigues-Pereira P, et al.: Multinodular goiter progression toward malignancy in a case of DICER1 syndrome: histologic and molecular alterations. Am J Clin Pathol. 2018; 149: 379–386.
20) Schultz KAP, Harris A, Williams GM, et al.: Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma. Pediatr Blood Cancer. 2014; 61: 1695–1967.
39) Schultz KAP, Harris AK, Finch M, et al.: DICER1-related sertoli-leydig cell tumor and gynandroblastoma;clinical and genetic findings from the international ovarian and testicular stromal tumor registry. Gynecol Oncol. 2017; 147: 521–527.
24) Apellaniz-Ruiz M, McCluggage WG, Foulkes WD.: DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract; pathology, molecular genetics, and indications for molecular testing. Genes Chromosomes Cancer. 2021; 60: 217–233.
8) de Kock L, Wu MK, Foulkes WD. :Ten years of DICER1 mutations: provenance, distribution, and associated phenotypes. Hum Mutat. 2019; 40: 1939–1953.
37) de Kock L, Sabbaghian N, Soglio DB-D, et al.:Exploring the association between DICER1 mutations and differentiated thyroid carcinoma. J Clin Endocrinol Metab. 2014; 99: E1072–1077.
43) Lambo S, Gröbner SN, Rausch T, et al.: The molecular landscape of ETMR at diagnosis and relapse. Nature. 2019; 576: 274–280.
30) Bakhuizen JJ, Hanson H, van der Tuin K, et al.: Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group. Fam Cancer. 2021; 20: 337–348.
28) Brodeur GM, Nichols KE, Plon SE, et al.: Pediatric cancer predisposition and surveillance;an overview, and a tribute to Alfred G. Knudson Jr. Clin Cancer Res. 2017; 23: e1–5.
5) Priest JR, Watterson J, Strong L, et al.: Pleuropulmonary blastoma: a marker for familial disease. J Pediatr. 1996; 128: 220–224.
45) Kaliki S, Shields CL, Eagle RC Jr, et al.: Ciliary body medulloepithelioma: analysis of 41 cases. Ophthalmology. 2013; 120: 2552–2559.
21) Schultz KAP, Williams GM, Kamihara J, et al.: DICER1 and associated conditions; identification of at-risk individuals and recommended surveillance strategies. Clin Cancer Res. 2018; 24: 2251–2261.
44) Koelsche C, Mynarek M, Schrimpf D, et al. Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations. Acta Neuropathol. 2018; 136: 327–337.
14) Mirshahi UL, Kim J, Best AF, et al.: A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance, and phenotype. JAMA Netw Open. 2021; 4: e210112.
17) Li BK, Vasiljevic A, Dufour C, et al.: Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study. Acta Neuropathol. 2020; 139: 223–241.
2) Schultz KAP, Stewart DR, Kamihara J, et al.: DICER1 tumor predisposition. GeneReviews. 2014.
42) Louis DN, Perry A, Wesseling P, et al.: The 2021 WHO classification of tiumors of the central nervous system: a summary. Neuro Oncol. 2021; 23: 1231–1251.
18) Klein S, Lee H, Ghahremani S, et al.: Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase Ⅲb domain of DICER1 cause GLOW syndrome. J Med Genet. 2014; 51: 294–302.
23) de Kock L, Wang YC, Revil T, et al.: High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. J Med Genet. 2016; 53: 43–52.
34) Khan NE, Bauer AJ, Schultz KAP, et al.: Quantification of thyroid cancer and multinodular goiter risk in the DICER1 syndrome: a family-based cohort study. J Clin Endocrinol Metab. 2017; 102: 1614–1622.
10) Venger K, Elbracht M, Carlens J, et al.: Unusual phenotypes in patients with a pathogenic germline variant in DICER1. Fam Cancer. 2021; Epub ahead of print.
13) Kim J, Field A, Schultz KAP, et al.: The prevalence of DICER1 pathogenic variation in population databases. Int J Cancer. 2017; 141: 2030–2036.
25) Botkin JR, Belmont JW, Berg JS, et al.: Points to consider;ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet. 2015; 97: 6–21.
References_xml – reference: 39) Schultz KAP, Harris AK, Finch M, et al.: DICER1-related sertoli-leydig cell tumor and gynandroblastoma;clinical and genetic findings from the international ovarian and testicular stromal tumor registry. Gynecol Oncol. 2017; 147: 521–527.
– reference: 16) Brenneman M, Field A, Yang J, et al.: Temporal order of RNase Ⅲb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome;a unique variant of the two-hit tumor suppression model. F1000Res. 2015; 4: 214.
– reference: 40) de Kock L, Sabbaghian N, Plourde F, et al.: Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. Acta Neuropathol. 2014; 128: 111–122.
– reference: 32) Bisogno G, Sarnacki S, Stachowicz-Stencel T, et al. :Pleuropulmonary blastoma in children and adolescents;The EXPeRT/PARTNER diagnostic and therapeutic recommendations. Pediatr Blood Cancer. 2021; 68 Suppl 4: e29045.
– reference: 24) Apellaniz-Ruiz M, McCluggage WG, Foulkes WD.: DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract; pathology, molecular genetics, and indications for molecular testing. Genes Chromosomes Cancer. 2021; 60: 217–233.
– reference: 22) Sabbaghian N, Srivastava A, Hamel N, et al.: Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides. Eur J Hum Genet. 2014; 22: 564–567.
– reference: 13) Kim J, Field A, Schultz KAP, et al.: The prevalence of DICER1 pathogenic variation in population databases. Int J Cancer. 2017; 141: 2030–2036.
– reference: 15) Schultz KAP, Rednam SP, Kamihara J, et al.: PTEN, DICER1, FH, and their associated tumor susceptibility syndromes;clinical features, genetics, and surveillance recommendations in childhood. Clin Cancer Res. 2017; 23: e76–82.
– reference: 28) Brodeur GM, Nichols KE, Plon SE, et al.: Pediatric cancer predisposition and surveillance;an overview, and a tribute to Alfred G. Knudson Jr. Clin Cancer Res. 2017; 23: e1–5.
– reference: 9) Warren M, Hiemenz MC, Schmidt R, et al.: Expanding the spectrum of DICER1-associated sarcomas. Mod Pathol. 2020; 33: 164–174.
– reference: 12) Yang K, Wang J, Kanwar N, et al.: A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL. Brain Tumor Pathol. 2022; Epub ahead of print.
– reference: 29) van Engelen K, Villani A, Wasserman JD, et al.: DICER1 syndrome;approach to testing and management at a large pediatric tertiary care center. Pediatr Blood Cancer. 2018; 65(1).DOI;10.1002/pbc.26702
– reference: 38) Merideth MA, Harney LA, Vyas N, et al.:Gynecologic and reproductive health in patients with pathogenic germline variants in DICER1. Gynecol Oncol. 2020; 156: 647–653.
– reference: 19) Pontén E, Frisk S, Taylan F, et al.: A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase Ⅲa domain of DICER1. J Med Genet. 2022; 59: 141–146.
– reference: 11) Terry W, Carlisle EM, Mallinger P, et al.: Thoracic Sertoli-Leydig cell tumor;an alternative type of pleuropulmonary blastoma associated with DICER1 variation. Pediatr Blood Cancer. 2021; 68: e29284.
– reference: 18) Klein S, Lee H, Ghahremani S, et al.: Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase Ⅲb domain of DICER1 cause GLOW syndrome. J Med Genet. 2014; 51: 294–302.
– reference: 31) Messinger YH, Stewart DR, Priest JR, et al.: Pleuropulmonary blastoma: a report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry. Cancer. 2015; 121: 276–285.
– reference: 10) Venger K, Elbracht M, Carlens J, et al.: Unusual phenotypes in patients with a pathogenic germline variant in DICER1. Fam Cancer. 2021; Epub ahead of print.
– reference: 25) Botkin JR, Belmont JW, Berg JS, et al.: Points to consider;ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet. 2015; 97: 6–21.
– reference: 27) Durno C, Ercan AB, Bianchi V, et al.: Survival benefit for individuals with constitutional mismatch repair deficiency undergoing surveillance. J Clin Oncol. 2021; 39: 2779–2290.
– reference: 45) Kaliki S, Shields CL, Eagle RC Jr, et al.: Ciliary body medulloepithelioma: analysis of 41 cases. Ophthalmology. 2013; 120: 2552–2559.
– reference: 3) Guillerman RP, Foulkes WD, Priest JR.: Imaging of DICER1 syndrome. Pediatr Radiol. 2019; 49: 1488–1505.
– reference: 35) Gullo I, Batista R, Rodrigues-Pereira P, et al.: Multinodular goiter progression toward malignancy in a case of DICER1 syndrome: histologic and molecular alterations. Am J Clin Pathol. 2018; 149: 379–386.
– reference: 30) Bakhuizen JJ, Hanson H, van der Tuin K, et al.: Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group. Fam Cancer. 2021; 20: 337–348.
– reference: 14) Mirshahi UL, Kim J, Best AF, et al.: A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance, and phenotype. JAMA Netw Open. 2021; 4: e210112.
– reference: 37) de Kock L, Sabbaghian N, Soglio DB-D, et al.:Exploring the association between DICER1 mutations and differentiated thyroid carcinoma. J Clin Endocrinol Metab. 2014; 99: E1072–1077.
– reference: 2) Schultz KAP, Stewart DR, Kamihara J, et al.: DICER1 tumor predisposition. GeneReviews. 2014.
– reference: 41) de Kock L, Priest JR, Foulkes WD, Alexandrescu S. :An update on the central nervous system manifestations of DICER1 syndrome. Acta Neuropathol. 2020; 139: 689–701.
– reference: 20) Schultz KAP, Harris A, Williams GM, et al.: Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma. Pediatr Blood Cancer. 2014; 61: 1695–1967.
– reference: 23) de Kock L, Wang YC, Revil T, et al.: High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. J Med Genet. 2016; 53: 43–52.
– reference: 46) Huryn LA, Turriff A, Harney LA, et al.: DICER1 syndrome: characterization of the ocular phenotype in a family-based cohort study. Ophthalmology. 2019; 126: 296–304.
– reference: 44) Koelsche C, Mynarek M, Schrimpf D, et al. Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations. Acta Neuropathol. 2018; 136: 327–337.
– reference: 6) Hill DA, Ivanovich J, Priest JR, et al.: DICER1 mutations in familial pleuropulmonary blastoma. Science. 2009; 325: 965.
– reference: 21) Schultz KAP, Williams GM, Kamihara J, et al.: DICER1 and associated conditions; identification of at-risk individuals and recommended surveillance strategies. Clin Cancer Res. 2018; 24: 2251–2261.
– reference: 17) Li BK, Vasiljevic A, Dufour C, et al.: Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study. Acta Neuropathol. 2020; 139: 223–241.
– reference: 5) Priest JR, Watterson J, Strong L, et al.: Pleuropulmonary blastoma: a marker for familial disease. J Pediatr. 1996; 128: 220–224.
– reference: 42) Louis DN, Perry A, Wesseling P, et al.: The 2021 WHO classification of tiumors of the central nervous system: a summary. Neuro Oncol. 2021; 23: 1231–1251.
– reference: 8) de Kock L, Wu MK, Foulkes WD. :Ten years of DICER1 mutations: provenance, distribution, and associated phenotypes. Hum Mutat. 2019; 40: 1939–1953.
– reference: 43) Lambo S, Gröbner SN, Rausch T, et al.: The molecular landscape of ETMR at diagnosis and relapse. Nature. 2019; 576: 274–280.
– reference: 33) Stewart DR, Best AF, Williams GM, et al.: Neoplasm risk among individuals with a pathogenic germline variant in DICER1. J Clin Oncol. 2019; 37: 668–676.
– reference: 26) Villani A, Shore A, Wasserman JD, et al.: Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. Lancet Oncol. 2016; 17: 1295–1305.
– reference: 34) Khan NE, Bauer AJ, Schultz KAP, et al.: Quantification of thyroid cancer and multinodular goiter risk in the DICER1 syndrome: a family-based cohort study. J Clin Endocrinol Metab. 2017; 102: 1614–1622.
– reference: 7) de Kock L, Geoffrion D, Rivera B, et al.: Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. Genes Chromosomes Cancer. 2018; 57: 223–230.
– reference: 4) 中野嘉子:DICER1症候群と遺伝性腫瘍.遺伝性腫瘍 2020; 20: 124-130.
– reference: 36) Chong A-S, Nikiforov YE, Condello V, et al.:Prevalence and spectrum of DICER1 mutations in adult-onset thyroid nodules with indeterminate cytology. J Clin Endocrinol Metab. 2021; 106: 968–977.
– reference: 1) Foulkes WD, Priest JR, Duchaine TF.: DICER1: mutations, microRNAs and mechanisms. Nat Rev Cancer. 2014; 14: 662–672.
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Snippet DICER1症候群は、胸膜肺芽腫をはじめ、嚢胞性腎腫、結節性甲状腺腫、甲状腺癌、卵巣セルトリ・ライディッヒ腫瘍、子宮頸部の横紋筋肉腫、まれな脳腫瘍などさまざまな臓器に及ぶ腫...
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SubjectTerms DICER1症候群
サーベイランス
小児遺伝性腫瘍
胸膜肺芽腫
遺伝学的検査
Title DICER1症候群に対する遺伝学的検査とサーベイランス
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