Complex chromosomal rearrangements in a secondary acute myeloblastic leukemia after chemotherapy in TRAPS.

ABSTRACT

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 right curved arrow 6q127p22.2 right curved arrow 7pter or 7pter right curved arrow 7p22.2), dic(7;19)t(6;19;6;7;19;7;19)(19qter right curved arrow 19q127p13 right curved arrow 7p11.119q12 right curved arrow 19p12 or 19p12 right curved arrow 19q127p11.1 right curved arrow 7q21.36q12 right curved arrow 6q2619p13.3 right curved arrow 19p126q26-6qter),dic(12;13)(13qter right curved arrow 13p11.212p13.1 right curved arrow 12qter),ace(12;13)(13pter right curved arrow 13p11.212p13.1 right curved arrow 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.