Cytogenetic studies in Fanconi's anemia. Description of a case with bone marrow clonal evolution

Abstract

The cytogenetic studies of a girl with Fanconi's anemia revealed that chromosome breakage was clearly increased in the peripheral blood lymphocytes, and that in the bone marrow 60 % of the cells had a structural abnormality characterized by a D group chromosome with a larger than normal long arm. It is thought that an in viva rearrangement had taken place in the past and, through clonal evolution, had increased its frequency. A complete review of the literature regarding direct cytogenetic studies of the bone marrow in Fanconi's anemia was performed and concluded that structural rearrangements are not unusual in this disease.

Chronic myelomonocytic leukemia with chromosomal changes involving lp36 and hepatocellular carcinoma in a case of Fanconi's anemia

“…In addition to apparent clonal hematopoietic dyscrasia, at least 3 cases of FA have been reported to have had abnormal clones in the bone marrow cells without evidence of leukemia or preleukemia (9, 21,22). No cases of chronic myelomonocytic leukemia (CMMoL) have been reported.…”

Fanconi's anemia: terminal leukemia and “Forme fruste” in one family

“…Bauer's hypothesis (1949) that neoplasia originates from mutation received new support from cytogenetic findings in some patients suffering from FA: cell clones were discovered in bone marrow preparations by Hirschmann et al (1969) andLisker &de Gutierrez (1974), and in peripheral blood cultures (Schroeder et al 1976b). There has been no report of any of those patients developing leukemia.…”