Literature DB >> 34677675

DICER1 syndrome in a young adult with pituitary blastoma.

Anne-Sophie Chong1,2, HyeRim Han3, Steffen Albrecht4, Young Cheol Weon5, Sang Kyu Park6, William D Foulkes7,8,9,10.   

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Year:  2021        PMID： 34677675     DOI： 10.1007/s00401-021-02378-0

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


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  41 in total

1.  Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion.

Authors:  Leanne de Kock; Dominique Geoffrion; Barbara Rivera; Rabea Wagener; Nelly Sabbaghian; Susanne Bens; Benjamin Ellezam; Dorothée Bouron-Dal Soglio; Jessica Ordóñez; Stephanie Sacharow; Jose Fernando Polo Nieto; R Paul Guillerman; Gordan M Vujanic; John R Priest; Reiner Siebert; William D Foulkes
Journal:  Genes Chromosomes Cancer       Date:  2018-02-10       Impact factor: 5.006

2.  Germ-line and somatic DICER1 mutations in pineoblastoma.

Authors:  Leanne de Kock; Nelly Sabbaghian; Harriet Druker; Evan Weber; Nancy Hamel; Suzanne Miller; Catherine S Choong; Nicholas G Gottardo; Ursula R Kees; Surya P Rednam; Liselotte P van Hest; Marjolijn C Jongmans; Shalini Jhangiani; James R Lupski; Margaret Zacharin; Dorothée Bouron-Dal Soglio; Annie Huang; John R Priest; Arie Perry; Sabine Mueller; Steffen Albrecht; David Malkin; Richard G Grundy; William D Foulkes
Journal:  Acta Neuropathol       Date:  2014-07-15       Impact factor: 17.088

3.  Germline DICER1-mutant intracranial sarcoma with dual chondroid and spindle cell morphology and pulmonary metastases treated with multimodal therapy.

Authors:  Anirban Das; Paromita Roy; Sheetal K Modi; Rimpa B Achari; Saugata Sen; Angad Singh; Reghu Sukumaran; Arpita Bhattacharyya
Journal:  Pediatr Blood Cancer       Date:  2019-04-16       Impact factor: 3.167

4.  High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.

Authors:  Leanne de Kock; Yu Chang Wang; Timothée Revil; Dunarel Badescu; Barbara Rivera; Nelly Sabbaghian; Mona Wu; Evan Weber; Claudio Sandoval; Saskia M J Hopman; Johannes H M Merks; Johanna M van Hagen; Antonia H M Bouts; David A Plager; Aparna Ramasubramanian; Linus Forsmark; Kristine L Doyle; Tonja Toler; Janine Callahan; Charlotte Engelenberg; Dorothée Bouron-Dal Soglio; John R Priest; Jiannis Ragoussis; William D Foulkes
Journal:  J Med Genet       Date:  2015-10-16       Impact factor: 6.318

5.  Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model.

Authors:  Mark Brenneman; Amanda Field; Jiandong Yang; Gretchen Williams; Leslie Doros; Christopher Rossi; Kris Ann Schultz; Avi Rosenberg; Jennifer Ivanovich; Joyce Turner; Heather Gordish-Dressman; Douglas Stewart; Weiying Yu; Anne Harris; Peter Schoettler; Paul Goodfellow; Louis Dehner; Yoav Messinger; D Ashley Hill
Journal:  F1000Res       Date:  2015-07-10

6.  Exploring the association Between DICER1 mutations and differentiated thyroid carcinoma.

Authors:  Leanne de Kock; Nelly Sabbaghian; Dorothée Bouron-Dal Soglio; R Paul Guillerman; Byung-Kiu Park; Rose Chami; Cheri L Deal; John R Priest; William D Foulkes
Journal:  J Clin Endocrinol Metab       Date:  2014-03-11       Impact factor: 5.958

7.  Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.

Authors:  Leanne de Kock; Mona K Wu; William D Foulkes
Journal:  Hum Mutat       Date:  2019-08-17       Impact factor: 4.878

Review 8.  Pituitary Blastoma in a 19-Year-Old Woman: A Case Report and Review of Literature.

Authors:  Youliny Chhuon; Young Cheol Weon; Gyeongmin Park; Misung Kim; Jun Bum Park; Sang Kyu Park
Journal:  World Neurosurg       Date:  2020-04-24       Impact factor: 2.104

9.  Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.

Authors:  Leanne de Kock; Nelly Sabbaghian; François Plourde; Archana Srivastava; Evan Weber; Dorothée Bouron-Dal Soglio; Nancy Hamel; Joon Hyuk Choi; Sung-Hye Park; Cheri L Deal; Megan M Kelsey; Megan K Dishop; Adam Esbenshade; John F Kuttesch; Thomas S Jacques; Arie Perry; Heinz Leichter; Philippe Maeder; Marie-Anne Brundler; Justin Warner; James Neal; Margaret Zacharin; Márta Korbonits; Trevor Cole; Heidi Traunecker; Thomas W McLean; Fabio Rotondo; Pierre Lepage; Steffen Albrecht; Eva Horvath; Kalman Kovacs; John R Priest; William D Foulkes
Journal:  Acta Neuropathol       Date:  2014-05-20       Impact factor: 17.088

10.  Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group.

Authors:  Jette J Bakhuizen; Helen Hanson; Karin van der Tuin; Fiona Lalloo; Marc Tischkowitz; Karin Wadt; Marjolijn C J Jongmans
Journal:  Fam Cancer       Date:  2021-06-25       Impact factor: 2.446
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