A case of acute myeloid leukemia-M2 with trisomy 4 in addition to t(8;21)

Sr Bakshi,Pm Shah,Sn Shukla,Bp Patel,Pj Trivedi,Sb Gajjar,Ps Patel,Rr Iyer,Mm Brahmbhatt,Eh Parikh

doi:10.4103/0971-6866.42323

Abstract

t(8;21)(q22;q22) is the most frequently observed karyotypic abnormality associated with acute myeloid leukemia (AML), specifically in FAB-M2. Short-term unstimulated bone marrow (BM) and peripheral blood lymphocyte culture showed 47,XX, +4,t(8;21) in all metaphase plates; and interphase and metaphase results of AML-ETO fusion was positive and trisomy of 4 was confirmed with WCP probes. Trisomy 4 in AML with t(8;21) is a rare numerical abnormality. Here we present such case of patient which may constitute a distinctive subtype.

Highlights

Trisomy 4 has no prognostic sifgniÞcance in acute non lymphocytic leukemia (ANLL); with the exception of the cases bearing c-kit mutations that are associated with a rapid disease progression
The Mitelman database for chromosomal aberrations in cancer queried for trisomy 4 with t(8;21) in acute myeloid leukemia (AML) showed only two cases.[6]
Most of such changes are not restricted to any speciÞc FAB types of AML, are often associated with secondary AML and AML with pre-existing myelodysplasia, or during clonal progression of AML

Summary

Case Report

Trisomy 4 in AML with t(8;21) is a rare numerical abnormality We present such case of patient which may constitute a distinctive subtype. Introduction t(8;21)(q22;q22) is the most frequently observed karyotypic abnormality associated with acute myeloid leukemia (AML), speciÞcally in FAB M2. Trisomy 4 as the sole anomaly is a rare chromosomal abnormality associated with a speciÞc subtype of primary acute non lymphocytic leukemia (ANLL) and secondary (treatmentrelated) ANLL with myelomonocytic morphology; it has been found with the same frequencies in the M1, M2, and M4 FAB phenotypes.[1,2] A retrospective analysis on the clinical and laboratory data of 21 cases of acute leukemia (AL) with trisomy 4 was performed by Pan et al and showed that AL with trisomy 4 have unique clinical and laboratory features and a poor prognosis. After 1 month of sample received, the patient was lost to follow up

Chromosome preparation

FISH analysis

Discussion