A Rare Ovarian Mixed Sex Cord Stromal Tumor in a Patient with Ollier Disease: A Case Report
This is a case report of a 10-year-old with Ollier disease and an ovarian mass. Ollier disease, a rare disorder characterized by multiple enchondromas resulting in bone deformities, has been occasionally associated with ovarian juvenile granulosa cell tumor. This patient developed signs of precociou...
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| Published in | Journal of pediatric & adolescent gynecology Vol. 37; no. 6; pp. 629 - 631 |
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| Main Authors | , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
01.12.2024
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| Online Access | Get full text |
| ISSN | 1083-3188 1873-4332 1873-4332 |
| DOI | 10.1016/j.jpag.2024.07.009 |
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| Abstract | This is a case report of a 10-year-old with Ollier disease and an ovarian mass. Ollier disease, a rare disorder characterized by multiple enchondromas resulting in bone deformities, has been occasionally associated with ovarian juvenile granulosa cell tumor. This patient developed signs of precocious puberty and was found to have an ovarian tumor; however, pathology revealed a mixed sex-cord stromal tumor with components of juvenile granulosa and Sertoli-Leydig cell tumor. Tumor genomic testing revealed an IDH1 mutation. Mixed sex-cord stromal tumors of this type, also called “gynandroblastomas,” have been associated with DICER1 mutations and DICER1 tumor predisposition syndrome but never with Ollier disease. Our findings expand the known spectrum of syndromic associations with this tumor type, with implications for tumor screening. |
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| AbstractList | This is a case report of a 10-year-old with Ollier disease and an ovarian mass. Ollier disease, a rare disorder characterized by multiple enchondromas resulting in bone deformities, has been occasionally associated with ovarian juvenile granulosa cell tumor. This patient developed signs of precocious puberty and was found to have an ovarian tumor; however, pathology revealed a mixed sex-cord stromal tumor with components of juvenile granulosa and Sertoli-Leydig cell tumor. Tumor genomic testing revealed an IDH1 mutation. Mixed sex-cord stromal tumors of this type, also called “gynandroblastomas,” have been associated with DICER1 mutations and DICER1 tumor predisposition syndrome but never with Ollier disease. Our findings expand the known spectrum of syndromic associations with this tumor type, with implications for tumor screening. This is a case report of a 10-year-old with Ollier disease and an ovarian mass. Ollier disease, a rare disorder characterized by multiple enchondromas resulting in bone deformities, has been occasionally associated with ovarian juvenile granulosa cell tumor. This patient developed signs of precocious puberty and was found to have an ovarian tumor; however, pathology revealed a mixed sex-cord stromal tumor with components of juvenile granulosa and Sertoli-Leydig cell tumor. Tumor genomic testing revealed an IDH1 mutation. Mixed sex-cord stromal tumors of this type, also called "gynandroblastomas," have been associated with DICER1 mutations and DICER1 tumor predisposition syndrome but never with Ollier disease. Our findings expand the known spectrum of syndromic associations with this tumor type, with implications for tumor screening.This is a case report of a 10-year-old with Ollier disease and an ovarian mass. Ollier disease, a rare disorder characterized by multiple enchondromas resulting in bone deformities, has been occasionally associated with ovarian juvenile granulosa cell tumor. This patient developed signs of precocious puberty and was found to have an ovarian tumor; however, pathology revealed a mixed sex-cord stromal tumor with components of juvenile granulosa and Sertoli-Leydig cell tumor. Tumor genomic testing revealed an IDH1 mutation. Mixed sex-cord stromal tumors of this type, also called "gynandroblastomas," have been associated with DICER1 mutations and DICER1 tumor predisposition syndrome but never with Ollier disease. Our findings expand the known spectrum of syndromic associations with this tumor type, with implications for tumor screening. |
| Author | French, Amanda V. Goldstein, Allan M. Devins, Kyle M. |
| Author_xml | – sequence: 1 givenname: Kyle M. surname: Devins fullname: Devins, Kyle M. organization: Department of Pathology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts – sequence: 2 givenname: Allan M. surname: Goldstein fullname: Goldstein, Allan M. organization: Department of Pediatric Surgery, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts – sequence: 3 givenname: Amanda V. orcidid: 0000-0001-6412-9397 surname: French fullname: French, Amanda V. email: afrench@mgb.org organization: Department of Obstetrics & Gynecology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/39098546$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1186/1750-1172-1-37 10.1038/ng.994 10.1016/j.ygyno.2017.09.034 10.1371/journal.pgen.1010504 10.1097/00000478-198408000-00002 10.1097/PAS.0000000000001544 10.1002/ajmg.a.61530 |
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| Keywords | Mixed sex-cord stromal tumor Ollier disease Juvenile granulosa cell tumor Gynandroblastoma |
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| References | Young, Dickersin, Scully (bib0005) 1984; 8 Schultz, Harris, Finch (bib0006) 2017; 147 Silve, Juppner (bib0002) 2006; 1 El Abiad, Robbins, Cohen (bib0001) 2020; 182 Ordulu, Young (bib0007) 2021; 45 Amary, Damato, Halai (bib0003) 2011; 43 Poll, Martin, Wohler (bib0004) 2022; 18 El Abiad (10.1016/j.jpag.2024.07.009_bib0001) 2020; 182 Amary (10.1016/j.jpag.2024.07.009_bib0003) 2011; 43 Schultz (10.1016/j.jpag.2024.07.009_bib0006) 2017; 147 Silve (10.1016/j.jpag.2024.07.009_bib0002) 2006; 1 Ordulu (10.1016/j.jpag.2024.07.009_bib0007) 2021; 45 Young (10.1016/j.jpag.2024.07.009_bib0005) 1984; 8 Poll (10.1016/j.jpag.2024.07.009_bib0004) 2022; 18 |
| References_xml | – volume: 147 start-page: 521 year: 2017 end-page: 527 ident: bib0006 article-title: DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry publication-title: Gynecol Oncol – volume: 43 start-page: 1262 year: 2011 end-page: 1265 ident: bib0003 article-title: Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2 publication-title: Nat Genet – volume: 1 start-page: 37 year: 2006 ident: bib0002 article-title: Ollier disease publication-title: Orphanet J Rare Dis – volume: 45 start-page: 59 year: 2021 end-page: 67 ident: bib0007 article-title: Sertoli-Leydig cell tumors of the ovary with follicular differentiation often resembling juvenile granulosa cell tumor: a report of 38 cases including comments on sex cord-stromal tumors of mixed forms (so-called gynandroblastoma) publication-title: Am J Surg Pathol – volume: 182 start-page: 1093 year: 2020 end-page: 1103 ident: bib0001 article-title: Natural history of Ollier disease and Maffucci syndrome: patient survey and review of clinical literature publication-title: Am J Med Genet A – volume: 18 year: 2022 ident: bib0004 article-title: Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome publication-title: PLoS Genet – volume: 8 start-page: 575 year: 1984 end-page: 596 ident: bib0005 article-title: Juvenile granulosa cell tumor of the ovary: a clinicopathologic analysis of 125 cases publication-title: Am J Surg Pathol – volume: 1 start-page: 37 year: 2006 ident: 10.1016/j.jpag.2024.07.009_bib0002 article-title: Ollier disease publication-title: Orphanet J Rare Dis doi: 10.1186/1750-1172-1-37 – volume: 43 start-page: 1262 issue: 12 year: 2011 ident: 10.1016/j.jpag.2024.07.009_bib0003 article-title: Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2 publication-title: Nat Genet doi: 10.1038/ng.994 – volume: 147 start-page: 521 issue: 3 year: 2017 ident: 10.1016/j.jpag.2024.07.009_bib0006 article-title: DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry publication-title: Gynecol Oncol doi: 10.1016/j.ygyno.2017.09.034 – volume: 18 issue: 12 year: 2022 ident: 10.1016/j.jpag.2024.07.009_bib0004 article-title: Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome publication-title: PLoS Genet doi: 10.1371/journal.pgen.1010504 – volume: 8 start-page: 575 issue: 8 year: 1984 ident: 10.1016/j.jpag.2024.07.009_bib0005 article-title: Juvenile granulosa cell tumor of the ovary: a clinicopathologic analysis of 125 cases publication-title: Am J Surg Pathol doi: 10.1097/00000478-198408000-00002 – volume: 45 start-page: 59 issue: 1 year: 2021 ident: 10.1016/j.jpag.2024.07.009_bib0007 article-title: Sertoli-Leydig cell tumors of the ovary with follicular differentiation often resembling juvenile granulosa cell tumor: a report of 38 cases including comments on sex cord-stromal tumors of mixed forms (so-called gynandroblastoma) publication-title: Am J Surg Pathol doi: 10.1097/PAS.0000000000001544 – volume: 182 start-page: 1093 issue: 5 year: 2020 ident: 10.1016/j.jpag.2024.07.009_bib0001 article-title: Natural history of Ollier disease and Maffucci syndrome: patient survey and review of clinical literature publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.61530 |
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| Title | A Rare Ovarian Mixed Sex Cord Stromal Tumor in a Patient with Ollier Disease: A Case Report |
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