Trisomy 8 preceding diagnosis of acute nonlymphocytic leukemia by 2 years in a patient with multiple myeloma without cytological evidence of myelodysplasia

Abstract

A case of acute nonlymphocytic leukemia (ANLL) occurring 2 years after the diagnosis of multiple myeloma (MM) that had been treated by only one course of melphalan/prednisone chemotherapy is reported. Cytogenetic and fluorescence in situ hybridization analysis of peripheral blood cells revealed trisomy 8 as the sole cytogenetic defect at the time of diagnosis of ANLL. Two years earlier, when MM was diagnosed without any cytological evidence of co-existent myelodysplasia, chromosomal analysis of bone marrow cells showed the same pathological karyotype 47, XY, +8 in 14 of 20 mitoses studied. Our interpretation of this unusual cytogenetic finding is that at the time of diagnosis of MM, in spite of lacking cytological signs of myelodysplasia, an unrecognizable myelodysplastic syndrome must have been present which then evolved to ANLL.

MDS/AML‐associated cytogenetic abnormalities in multiple myeloma and monoclonal gammopathy of undetermined significance: Evidence for frequent de novo occurrence and multipotent stem cell involvement of del(20q)

“…Several investigations (Rö djer et al, 1990;Merlat et al, 1999;Mauritzson et al, 2002;Pedersen-Bjergaard et al, 2002;Smith et al, 2003) have shown that myeloid malignancies post-MM are characterized by cytogenetic patterns typical of alkylating agent-induced MDS/ AML, that is, complex karyotypes, hypodiploidy, and certain genomic aberrations, for example, total or partial loss of chromosomes 5, 7, and 17, deletions of 12p, and monosomy 18 (Table 1). Although the presence of these cytogenetic features in MM, sometimes occurring without any signs of MDS/ AML (Dewald et al, 1985;Clark et al, 1989;Johansson et al, 1995;Weh et al, 1996;Amiel et al, 1999;Fonseca et al, 2000;Blann et al, 2002;Ferro et al, 2002), often indicates an emerging malignant myeloid disorder, in particular, if the MM patient has received alkylating therapy, the interpretation of such karyotypic findings can be difficult in individual cases. For this reason, we performed statistical analyses of all cytogenetically abnormal MMs and t-MDS/t-AMLs post-MM reported in the literature (Mitelman et al, 2004) in order to identify genomic patterns that could be used to distinguish between these two disease entities.…”

“…In most instances, such cytogenetic features signify the presence of therapyrelated malignancies, in particular, t-MDS/t-AML in MM patients who have previously been treated with alkylating agents (Rö djer et al, 1990;Merlat et al, 1999;Pedersen-Bjergaard et al, 2002). In a few instances, however, MDS/AML-associated chromosomal changes, for example, der(1;7)(q10; p10), t(1;3)(p36;q21), del(5q), Ϫ7, ϩ8, and del(20q), are detected in PCDs without any morphologic features of MDS or AML (Dewald et al, 1985;Clark et al, 1989;Johansson et al, 1995;Weh et al, 1996;Amiel et al, 1999;Fonseca et al, 2000;Blann et al, 2002;Ferro et al, 2002). The clinical significance of these aberrations has not been investigated in any greater detail.…”

The Diagnostic Challenge of Therapy-Related Pure Erythroid Leukemia Arising in the Setting of Multiple Myeloma

“…AML than in plasma cell neoplasms. In MM trisomy 8 usually indicates development of a therapy-related myeloid neoplasm, or a concurrent myeloproliferative neoplasm [36][37][38]. Identification of specific trisomies is important in the distinction of hyperdiploidy of MM from those occurring in AML.…”

Transient Plasmacytosis With Trisomy of Chromosome 8 in a Patient With Multiple Myeloma: A Case Report

“…Robak et al [ 17 ]reported a rare case of primary PCL with trisomy 8. Additionally, an MM patient with trisomy 8 was reported to develop nonlymphocytic leukemia with the same karyotypic abnormality as the preexisting myeloma cells [ 18 ]. However, no cases of secondary PCL with trisomy 8 have previously been reported.…”