Literature DB >> 24821309

Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma.

Kris Ann P Schultz1, Anne Harris, Gretchen M Williams, Shari Baldinger, Leslie Doros, Patricia Valusek, A Lindsay Frazier, Louis P Dehner, Yoav Messinger, D Ashley Hill.   

Abstract

Pleuropulmonary blastoma (PPB) and Sertoli-Leydig cell tumor (SLCT) are both associated with germline mutations in DICER1. In this brief report, a maternal history of SLCT led to identification of a deleterious DICER1 mutation in the patient and her asymptomatic infant. Radiographic screening revealed a large Type I PPB, which was completely resected. Identification of DICER1 mutation carriers and imaging of children at risk for PPB may allow detection of PPB in its earliest and most curable form, leading to increased likelihood of surgical cure and decreased risks of treatment-related late effects.
© 2014 Wiley Periodicals, Inc.

Entities:  

Keywords:  DICER1; Sertoli-Leydig cell tumor; genetic testing; lung cysts; pleuropulmonary blastoma

Mesh：

Substances：

Year:  2014        PMID： 24821309      PMCID： PMC4139105          DOI： 10.1002/pbc.25092

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


  15 in total

1.  DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.

Authors:  Thomas Rio Frio; Amin Bahubeshi; Chryssa Kanellopoulou; Nancy Hamel; Marek Niedziela; Nelly Sabbaghian; Carly Pouchet; Lucy Gilbert; Paul K O'Brien; Kim Serfas; Peter Broderick; Richard S Houlston; Fabienne Lesueur; Elena Bonora; Stefan Muljo; R Neil Schimke; Dorothée Bouron-Dal Soglio; Jocelyne Arseneau; Kris Ann Schultz; John R Priest; Van-Hung Nguyen; H Rubén Harach; David M Livingston; William D Foulkes; Marc Tischkowitz
Journal:  JAMA       Date:  2011-01-05       Impact factor: 56.272

2.  The challenge of very rare tumours in childhood: the Italian TREP project.

Authors:  Andrea Ferrari; Gianni Bisogno; Gian Luca De Salvo; Paolo Indolfi; Giorgio Perilongo; Giovanni Cecchetto
Journal:  Eur J Cancer       Date:  2006-10-16       Impact factor: 9.162

3.  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

4.  DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome.

Authors:  Leslie Doros; Jiandong Yang; Louis Dehner; Christopher T Rossi; Kerry Skiver; Jason A Jarzembowski; Yoav Messinger; Kris Ann Schultz; Gretchen Williams; Nicolas André; D Ashley Hill
Journal:  Pediatr Blood Cancer       Date:  2011-12-16       Impact factor: 3.167

5.  DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions.

Authors:  Kris Ann Schultz; Jiandong Yang; Leslie Doros; Gretchen M Williams; Anne Harris; Douglas R Stewart; Yoav Messinger; Amanda Field; Louis P Dehner; D Ashley Hill
Journal:  Pathol Case Rev       Date:  2014-03

6.  Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides.

Authors:  Nelly Sabbaghian; Archana Srivastava; Nancy Hamel; François Plourde; Malgorzata Gajtko-Metera; Marek Niedziela; William D Foulkes
Journal:  Eur J Hum Genet       Date:  2013-09-25       Impact factor: 4.246

Review 7.  Type I pleuropulmonary blastoma: pathology and biology study of 51 cases from the international pleuropulmonary blastoma registry.

Authors:  Dana Ashley Hill; Jason A Jarzembowski; John R Priest; Gretchen Williams; Peter Schoettler; Louis P Dehner
Journal:  Am J Surg Pathol       Date:  2008-02       Impact factor: 6.394

8.  DICER1 mutations in familial pleuropulmonary blastoma.

Authors:  D Ashley Hill; Jennifer Ivanovich; John R Priest; Christina A Gurnett; Louis P Dehner; David Desruisseau; Jason A Jarzembowski; Kathryn A Wikenheiser-Brokamp; Brian K Suarez; Alison J Whelan; Gretchen Williams; Dawn Bracamontes; Yoav Messinger; Paul J Goodfellow
Journal:  Science       Date:  2009-06-25       Impact factor: 47.728

9.  DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma.

Authors:  Leslie A Doros; Christopher T Rossi; Jiandong Yang; Amanda Field; Gretchen M Williams; Yoav Messinger; Mariana M Cajaiba; Elizabeth J Perlman; Kris A Schultz; Helen P Cathro; Robin D Legallo; Kristin A LaFortune; Kudakwashe R Chikwava; Paulo Faria; James I Geller; Jeffrey S Dome; Elizabeth A Mullen; Eric J Gratias; Louis P Dehner; D Ashley Hill
Journal:  Mod Pathol       Date:  2014-01-31       Impact factor: 7.842

10.  DICER1 hotspot mutations in non-epithelial gonadal tumours.

Authors:  L Witkowski; J Mattina; S Schönberger; M J Murray; C S Choong; D G Huntsman; J S Reis-Filho; W G McCluggage; J C Nicholson; N Coleman; G Calaminus; D T Schneider; J Arseneau; C J R Stewart; W D Foulkes
Journal:  Br J Cancer       Date:  2013-10-17       Impact factor: 7.640
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  19 in total

1.  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

2.  Reply: Serum microRNA screening for DICER1-associated pleuropulmonary blastoma.

Authors:  Kris Ann P Schultz; Anne Harris; Gretchen M Williams; Shari Baldinger; Leslie Doros; Patricia Valusek; A Lindsay Frazier; Louis P Dehner; Yoav Messinger; D Ashley Hill
Journal:  Pediatr Blood Cancer       Date:  2014-09-22       Impact factor: 3.167

3.  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

4.  Ovarian Sex Cord-Stromal Tumors.

Authors:  Kris Ann P Schultz; Anne K Harris; Dominik T Schneider; Robert H Young; Jubilee Brown; David M Gershenson; Louis P Dehner; D Ashley Hill; Yoav H Messinger; A Lindsay Frazier
Journal:  J Oncol Pract       Date:  2016-10       Impact factor: 3.840

5.  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

6.  Pediatric imaging in DICER1 syndrome.

Authors:  Marta Tijerin Bueno; Claudia Martínez-Ríos; Alejandro De la Puente Gregorio; Rayan A Ahyad; Anita Villani; Harriet Druker; Kalene van Engelen; Bailey Gallinger; Laura Aronoff; Ronald Grant; David Malkin; Mary-Louise C Greer
Journal:  Pediatr Radiol       Date:  2017-05-04

7.  Ovarian tumors related to intronic mutations in DICER1: a report from the international ovarian and testicular stromal tumor registry.

Authors:  Kris Ann P Schultz; Anne Harris; Yoav Messinger; Susan Sencer; Shari Baldinger; Louis P Dehner; D Ashley Hill
Journal:  Fam Cancer       Date:  2016-01       Impact factor: 2.375

Review 8.  Management of familial cancer: sequencing, surveillance and society.

Authors:  Nardin Samuel; Anita Villani; Conrad V Fernandez; David Malkin
Journal:  Nat Rev Clin Oncol       Date:  2014-10-14       Impact factor: 66.675

Review 9.  DICER1: mutations, microRNAs and mechanisms.

Authors:  William D Foulkes; John R Priest; Thomas F Duchaine
Journal:  Nat Rev Cancer       Date:  2014-09-01       Impact factor: 60.716

Review 10.  Rare Tumors in Children: Progress Through Collaboration.

Authors:  Alberto S Pappo; Wayne L Furman; Kris A Schultz; Andrea Ferrari; Lee Helman; Mark D Krailo
Journal:  J Clin Oncol       Date:  2015-08-24       Impact factor: 44.544
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