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Recurrence of a dysgerminoma in Frasier syndrome
Author(s) -
Mestrallet Guillaume,
BertholetThomas Aurélia,
Ranchin Bruno,
Bouvier Raymonde,
Frappaz Didier,
Cochat Pierre
Publication year - 2011
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/j.1399-3046.2010.01273.x
Subject(s) - medicine , gonadoblastoma , dysgerminoma , transplantation , gonadal dysgenesis , endocrinology , gynecology , gastroenterology , ovary , genetics , gene , karyotype , chromosome , biology
Mestrallet G, Bertholet‐Thomas A, Ranchin B, Bouvier R, Frappaz D, Cochat P. Recurrence of a dysgerminoma in Frasier syndrome.
Pediatr Transplantation 2011: 15:e53–e55. © 2010 John Wiley & Sons A/S. Abstract: FS is an inherited disease characterized by male pseudohermaphroditism and glomerular involvement leading to end‐stage renal disease during adolescence or early adulthood (J Pediatr 1964:64:740). The FS phenotype in 46,XY patients consists of female external genitalia, gonadal dysgenesis, high risk of gonadoblastoma, and development of renal failure in the second decade of life. FS is caused by heterozygous mutation in intron 9 of the WT1 leading to a change in splicing that results in loss of three amino acids (+KTS isoform), thus disrupting the normal ratio of the +KTS/−KTS isoforms that is critical for proper gonadal and renal development (Nat Genet 1997:17:467; Hum Mol Genet 1998:7:709). We report on a patient followed for FS revealed by acute peritoneal syndrome because of ovarian dysgerminoma. Therapeutic options had led to an unusual course with recurrent neoplastic disease after renal transplantation.