Literature DB >> 27830405

DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations.

Eduardo J Bardón-Cancho1, Ana Haro-Díaz2, Francisco J Alonso-García-de la Rosa3, Jorge Huerta-Aragonés2, Marina García-Morín2, Felipe González-Martínez4, Carmen Garrido-Colino2.   

Abstract

The familial tumor predisposition syndrome known as DICER1-pleuropulmonary blastoma (PPB) or DICER1 tumor predisposition syndrome was first described in 2009, and it involves an increased risk in the occurrence of various tumors, like cystic nephroma and PPB. Here is presented a girl with a cystic nephroma and two cystic lung lesions who was diagnosed years later with the DICER1 gene mutation. This mutation was also found in one of her parents. Thus, the screening for the DICER1 gene mutation may be important in children with certain/multiple tumors and their families.

Entities:  

Keywords:  Cystic nephroma; DICER1 tumor predisposition syndrome; Familial tumor predisposition syndrome; Pleuropulmonary blastoma

Mesh：

Substances：

Year:  2017        PMID： 27830405     DOI： 10.1007/s10689-016-9949-6

Source DB:  PubMed          Journal:  Fam Cancer        ISSN： 1389-9600            Impact factor:   2.375


  11 in total

1.  Ovarian sex cord-stromal tumors in patients with probable or confirmed germline DICER1 mutations.

Authors:  E Ebo Oost; Adrian Charles; Catherine S Choong; Yee C Leung; Stuart Salfinger; Hein Sonnendecker; Jason Tan; Sharron Townshend; Leora Witkowski; William D Foulkes; Colin J R Stewart
Journal:  Int J Gynecol Pathol       Date:  2015-05       Impact factor: 2.762

2.  Pleuropulmonary Blastoma: Evolution of an Entity as an Entry into a Familial Tumor Predisposition Syndrome.

Authors:  Louis P Dehner; Yoav H Messinger; Kris Ann P Schultz; Gretchen M Williams; Kathryn Wikenheiser-Brokamp; D Ashley Hill
Journal:  Pediatr Dev Pathol       Date:  2015-12-23

3.  Radiographic screening of infants and young children with genetic predisposition for rare malignancies: DICER1 mutations and pleuropulmonary blastoma.

Authors:  Divya G Sabapathy; R Paul Guillerman; Robert C Orth; Wei Zhang; Yoav Messinger; William Foulkes; John R Priest; Ananth V Annapragada
Journal:  AJR Am J Roentgenol       Date:  2015-04       Impact factor: 3.959

4.  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

5.  Familial association of pleuropulmonary blastoma with cystic nephroma and other renal tumors: a report from the International Pleuropulmonary Blastoma Registry.

Authors:  Françoise Boman; D Ashley Hill; Gretchen M Williams; Allen Chauvenet; Jean-Christophe Fournet; Dorothée Bouron-Dal Soglio; Yoav Messinger; John R Priest
Journal:  J Pediatr       Date:  2006-12       Impact factor: 4.406

Review 6.  DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: What the paediatric urologist needs to know.

Authors:  Alice Faure; John Atkinson; Aurore Bouty; Mike O'Brien; Guillaume Levard; John Hutson; Yves Heloury
Journal:  J Pediatr Urol       Date:  2015-09-26       Impact factor: 1.830

7.  Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of 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:  2014-05-13       Impact factor: 3.167

Review 8.  Pulmonary cysts in early childhood and the risk of malignancy.

Authors:  John R Priest; Gretchen M Williams; D Ashley Hill; Louis P Dehner; Adam Jaffé
Journal:  Pediatr Pulmonol       Date:  2009-01

9.  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

10.  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
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  2 in total

1.  Cystic renal mass in an infant with significant family history: Answers.

Authors:  Elsa Wynd; Peter Borzi; John Burke
Journal:  Pediatr Nephrol       Date:  2017-10-18       Impact factor: 3.714

Review 2.  DICER1 Syndrome: DICER1 Mutations in Rare Cancers.

Authors:  Jake C Robertson; Cheryl L Jorcyk; Julia Thom Oxford
Journal:  Cancers (Basel)       Date:  2018-05-15       Impact factor: 6.639
  2 in total

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