FAMILIAL MYELODYSPLASTIC SYNDROME WITH ONSET LATE IN LIFE

A family is described in which three, and possibly four members, namel y, the propositus, two paternal uncles, and possibly his paternal gran dfather, developed a myelodysplastic syndrome (MDS) after the age of 6 0 years. This late onset resembles sporadic cases which are commoner i n older age, rather than the previously reported familial cases most o f wham have been children or young adults, The three affected members had megaloblastoid bone marrows with an increased proportion of bone m arrow blasts and developed progressive bone marrow failure without leu kemic transformation, The propositus showed a dramatic but temporary r esponse to GM-CSF therapy but eventually became unresponsive with a ma rked increase in bone marrow reticulin and reduction in hemopoietic el ements, Affected members had no recognisable bone marrow cytogenetic a bnormality but the pattern of inheritance and similarity in clinical f eatures suggest an inherited genetic defect which predisposes to the d evelopment of MDS. (C) 1995 Wiley-Liss, Inc.