Literature DB >> 2985019

Fanconi's anemia, medulloblastoma, Wilms' tumor, horseshoe kidney, and gonadal dysgenesis.

J P de Chadarévian, M Vekemans, M Bernstein.   

Abstract

An 18-month-old female infant with clinically and cytogenetically documented Fanconi's anemia was found to have two neoplasms previously unreported in this syndrome to our knowledge: a medulloblastoma and a Wilms' tumor, with the latter arising in a horseshoe kidney. An additional feature was pure gonadal dysgenesis. These unusual associations are discussed in the context of certain syndromes suggestive of an axial predisposition for neoplasia (kidneys-central nervous system and kidneys-gonads).

Entities:  

Mesh：

Year:  1985        PMID： 2985019

Source DB:  PubMed          Journal:  Arch Pathol Lab Med        ISSN： 0003-9985            Impact factor:   5.534


  8 in total

1.  Scaling up to study brca2: the zeppelin zebrafish mutant reveals a role for brca2 in embryonic development of kidney mesoderm.

Authors:  Bridgette E Drummond; Rebecca A Wingert
Journal:  Cancer Cell Microenviron       Date:  2018-04-09

2.  The zebrafish kidney mutant zeppelin reveals that brca2/fancd1 is essential for pronephros development.

Authors:  Paul T Kroeger; Bridgette E Drummond; Rachel Miceli; Michael McKernan; Gary F Gerlach; Amanda N Marra; Annemarie Fox; Kristen K McCampbell; Ignaty Leshchiner; Adriana Rodriguez-Mari; Ruth BreMiller; Ryan Thummel; Alan J Davidson; John Postlethwait; Wolfram Goessling; Rebecca A Wingert
Journal:  Dev Biol       Date:  2017-06-01       Impact factor: 3.582

Review 3.  Central nervous system atypical teratoid tumor/rhabdoid tumor: response to intensive therapy and review of the literature.

Authors:  J M Hilden; J Watterson; D C Longee; C L Moertel; M E Dunn; J Kurtzberg; B W Scheithauer
Journal:  J Neurooncol       Date:  1998-12       Impact factor: 4.130

4.  Medulloblastoma and esthesioneuroblastoma in a pediatric patient: a co-incidence or result of common genetic anomaly.

Authors:  Sushanta K Sahoo; Renu Madan; Debajyoti Chatterjee; Mayur Parkhi; Anurodh Kumar
Journal:  Childs Nerv Syst       Date:  2021-10-08       Impact factor: 1.475

5.  Hepatic Sinusoidal Obstruction Syndrome in a child after chemotherapy for medulloblastoma.

Authors:  M Kashif Ishaqi; A Jamil; M Khanani; M Baroudi; Omar Trad; M El-Hayek; Eric Bouffet
Journal:  J Neurooncol       Date:  2009-08-23       Impact factor: 4.130

6.  Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood.

Authors:  L B Rorke; R Packer; J Biegel
Journal:  J Neurooncol       Date:  1995       Impact factor: 4.130

7.  Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia.

Authors:  A Serra; K Eirich; A K Winkler; K Mrasek; G Göhring; G Barbi; H Cario; B Schlegelberger; B Pokora; T Liehr; C Leriche; D Henne-Bruns; T F Barth; D Schindler
Journal:  Mol Syndromol       Date:  2012-08-23

8.  Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup.

Authors:  Evelina Miele; Angela Mastronuzzi; Agnese Po; Andrea Carai; Vincenzo Alfano; Annalisa Serra; Giovanna Stefania Colafati; Luisa Strocchio; Manila Antonelli; Francesca Romana Buttarelli; Massimo Zani; Sergio Ferraro; Amelia Buffone; Alessandra Vacca; Isabella Screpanti; Felice Giangaspero; Giuseppe Giannini; Franco Locatelli; Elisabetta Ferretti
Journal:  Biomark Res       Date:  2015-06-06
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.