Familial Myelodysplastic Syndrome/Acute Myeloid Leukaemia With Monosomy 7: Report of a New Kindred

Abstract

Familial juvenile myeloid disorders are uncommon, but better understanding of their basis may lead to crucial advances in the study of leukemogenesis. We report a family with three siblings who died of myelodysplasia and/or acute myeloid leukemia at the age of 10, 11 and 16 years, respectively. Two children died of a fulminant generalized varicella. No somatic constitutional abnormalities were found and histories of exposure to common environmental or occupational mutagens were unremarkable. One of the two tested patients had monosomy of the chromosome 7 in all examined metaphases. Therefore, the clinical and genetic findings are consistent with the “Familial Monosomy 7”. A constitutional pericentric inversion of chromosome 9 (p11q13) was detected in the karyotype of the father and both analyzed siblings. In addition, clustering of breast cancer was observed in maternal relatives. As the mode of inheritance and the molecular basis of this disease remain obscure, we believe that it is important to report new cases and attempt to study them as thoroughly as possible. We discuss possible mechanisms of familial tendency to myeloid malignancies.

Keywords:

• Myelodysplastic syndrome
• acute myeloid leukemia
• familial
• monosomy 7
• inversion 9
• varicella