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Literature DB >> 35026696

Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome.

Annie Garcia¹, Lauren Desrosiers², Sarah Scollon², Stephanie Gruner², Jacquelyn Reuther¹, Ilavarasi Gandhi¹, Ninad Patil¹, Maren Y Fuller¹, Hongzheng Dai³, Donna Muzny⁴, Richard A Gibbs⁵, Jennifer L Bercaw-Pratt⁶, Seema L Rao², Nino Rainusso⁷, Kevin E Fisher⁸, Frank Y Lin⁷, Sharon E Plon⁹, D Williams Parsons¹⁰, Angshumoy Roy¹¹.

Abstract

Entities: Chemical

Keywords: DICER1; Mosaic; Pathogenic; RNase IIIb; Sertoli-Leydig

Mesh：

Substances：

Year: 2022 PMID： 35026696 PMCID： PMC8920771 DOI： 10.1016/j.cancergen.2022.01.001

Source DB: PubMed Journal: Cancer Genet

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References

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7 in total

1. DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry.

Authors: Kris Ann P Schultz; Anne K Harris; Michael Finch; Louis P Dehner; Jubilee B Brown; David M Gershenson; Robert H Young; Amanda Field; Weiying Yu; Joyce Turner; Nicholas G Cost; Dominik T Schneider; Douglas R Stewart; A Lindsay Frazier; Yoav Messinger; D Ashley Hill
Journal: Gynecol Oncol Date: 2017-10-14 Impact factor: 5.482

2. Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers.

Authors: Alireza Heravi-Moussavi; Michael S Anglesio; S-W Grace Cheng; Janine Senz; Winnie Yang; Leah Prentice; Anthony P Fejes; Christine Chow; Alicia Tone; Steve E Kalloger; Nancy Hamel; Andrew Roth; Gavin Ha; Adrian N C Wan; Sarah Maines-Bandiera; Clara Salamanca; Barbara Pasini; Blaise A Clarke; Anna F Lee; Cheng-Han Lee; Chengquan Zhao; Robert H Young; Samuel A Aparicio; Poul H B Sorensen; Michelle M M Woo; Niki Boyd; Steven J M Jones; Martin Hirst; Marco A Marra; Blake Gilks; Sohrab P Shah; William D Foulkes; Gregg B Morin; David G Huntsman
Journal: N Engl J Med Date: 2011-12-21 Impact factor: 91.245

3. DICER1 Mutations Are Consistently Present in Moderately and Poorly Differentiated Sertoli-Leydig Cell Tumors.

Authors: Leanne de Kock; Tatjana Terzic; W Glenn McCluggage; Colin J R Stewart; Patricia Shaw; William D Foulkes; Blaise A Clarke
Journal: Am J Surg Pathol Date: 2017-09 Impact factor: 6.394

4. Somatic tumour testing establishes that bilateral DICER1-associated ovarian Sertoli-Leydig cell tumours represent independent primary neoplasms.

Authors: W Glenn McCluggage; Anne-Laure Chong; Leanne de Kock; William D Foulkes
Journal: Histopathology Date: 2020-06-12 Impact factor: 5.087

Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome.

1. DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry.

2. Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers.

3. DICER1 Mutations Are Consistently Present in Moderately and Poorly Differentiated Sertoli-Leydig Cell Tumors.

4. Somatic tumour testing establishes that bilateral DICER1-associated ovarian Sertoli-Leydig cell tumours represent independent primary neoplasms.

5. Results from a Monocentric Long-Term Analysis of 23 Patients with Ovarian Sertoli-Leydig Cell Tumors.

Review 6. Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor.

7. Distinct DICER1 Hotspot Mutations Identify Bilateral Tumors as Separate Events.