We report on the cytogenetic findings from a patient with a de novo TNF-receptor-associated periodic syndrome (TRAPS), who showed first symptoms at the age of four months. Thus, he obtained a long-term therapy with cortisone, chlorambucile, methotrexate and cyclophosphamide. At the age of 14 he developed a secondary acute myeloblastic leukemia. Highly complex chromosomal rearrangements were detected after banding analysis. The exact definition of karyotype and the involved breakpoints could only be resolved after application of sophisticated multicolor-FISH techniques: 44,XY,-5,der(6)t(6;7)(6pter↷6q12::7p22.2↷7pter or 7pter↷7p22.2), dic(7;19)t(6;19;6;7;19;7;19)(19qter↷19q12::7p13↷7p11.1::19q12↷19p12 or 19p12↷19q12::7p11.1↷7q21.3::6q12↷6q26::19p13.3↷19p12::6q26-6qter),dic(12;13)(13qter↷13p11.2::12p13.1↷12qter),ace(12;13)(13pter↷13p11.2::12p13.1↷12pter), -19. The simultaneous presence of two dicentric chromosomes has not been reported previously and is striking, as such chromosomes are suggested to be instable. However, such chromosomes are observed frequently after chemo- or radiotherapy and in secondary, i.e. therapy related AML (tAML). Thus, AML in this case may result from a long-term therapy of TRAPS with methotrexate, cyclophosphamide, chlorambucile and cortisone.

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