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Myelodysplastic syndrome with trisomy 8 in an adolescent with fanconi anaemia and selective igA deficiency
Author(s) -
Standen Graham R.,
Hughes Leuan A.,
Geddes A. Denise,
Jones Brian M.,
Wardrop Charles A. J.
Publication year - 1989
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830310413
Subject(s) - fanconi anemia , bone marrow failure , trisomy 8 , bone marrow , mitomycin c , trisomy , myelodysplastic syndromes , medicine , immunology , cancer research , biology , chromosome , haematopoiesis , cytogenetics , genetics , dna repair , stem cell , dna , gene
We describe a patient with growth failure and multiple congenital anomalies characteristic of Fanconi anaemia, but without the classical feature of progressive bone marrow hypoplasia. Following treatment with growth hormone for a period of 8 years, he presented with myelodysplastic syndrome and a karyotypically abnormal clone in the bone marrow (47,XY, + 8). The diagnosis of Fanconi anaemia was supported by the induction of abnormally high levels of characteristic chromosome aberrations in peripheral lymphocytes following exposure in vitro to the bifunctional alkylating agent mitomycin C. Immune function studies also identified a selective IgA deficiency. The relative importance of interacting constitutional and exogenous factors involved in the development of preleukaemia in this patient is discussed.