Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene – Case Report

Česká verzia

Authors: A. Puchmajerová ¹; K. Švojgr ²; D. Novotná ¹; E. Macháčková ³; D. Sumerauer ²; P. Smíšek ²; R. Kodet ⁴; M. Kynčl ⁵; A. Křepelová ¹; L. Foretová ³
Authors place of work: Ústav biologie a lékařské genetiky, 2. LF UK a FN v Motole, Praha ¹; Klinika dětské hematologie a onkologie 2. LF UK a FN v Motole, Praha ²; Oddělení genetiky a epidemiologie nádorů, Masarykův onkologický ústav, Brno ³; Ústav patologie a molekulární medicíny, 2. LF UK a FN v Motole, Praha ⁴; Klinika zobrazovacích metod 2. LF UK a FN v Motole, Praha ⁵
Published in the journal: Klin Onkol 2016; 29(Supplementum 1): 89-92
Category: Case Report
doi: https://doi.org/10.14735/amko2016S89

Summary

Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, microcephaly, skeletal abnormalities, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade. Patients with Fanconi anemia have a high risk of hematologic malignancies and solid tumors. The diagnosis of Fanconi anemia is based on cytogenetic testing for increased rates of spontaneous chromosomal breakage and increased sensitivity to diepoxybutane or mitomycin C. Fanconi anemia is a heterogeneous disorder, at least 15 complementation groups are described, and 15 genes in which mutations are responsible for all of the 15 Fanconi anemia complementation groups have been identified. Unlike other Fanconi anemia complementation groups, for complementation group D1 (FANCD1), the bone marrow failure is not a typical feature, but early-onset leukemia and specific solid tumors, most often medulloblastoma and Wilms tumor, are typical for this complementation group.

Key words:
Fanconi anemia – complementation group – FANCD1 – BRCA2 gene– leukemia – Wilms tumor – medulloblastoma

This work was supported by grant from Norway NF-CZ11-PDP-3-003-2014, MH ČR – RVO, UH Motol 00064203 and OPPK – CZ-2.16./3.1.00/24022.

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers.

Submitted:
14. 7. 2015

Accepted:
6. 12. 2015

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