The Ewha Medical Journal  2012;35(1):62-64

doi:10.12771/emj.2012.35.1.62

Sole Trisomy 22 Not Associated with inv(16) in Myelodysplastic Syndrome.

Chorong HAHM 1 ; Yusun HWANG ; Yeung Chul MUN ; Chu Myong SEONG ; Wha Soon CHUNG ; Jungwon HUH

Affiliations

+expand

Keywords

Trisomy 22; Sole; Myelodysplastic syndrome; Auer rod

Country

Republic of Korea

Language

English

Abstract

Trisomy 22 is closely associated with inv(16) or t(16;16) and could be a marker of cryptic rearrangement of CBFB/MYH11 in acute myeloid leukemia (AML). Trisomy 22 not associated with CBFB/MYH11 rearrangement is a rare event. Here, we report a case diagnosed as refractory anemia with excess blasts-2 (RAEB-2) with sole trisomy 22 in the absence of CBFB/MYH11 rearrangement. The cytogenetic study of bone marrow cells disclosed trisomy 22 in 10% of metaphase cells analyzed. The other chromosomal abnormalities were not found. Fluorescence in situ hybridization (FISH) using CBFB/MYH11 probe to detect cryptic inv(16)(p13q22) showed negative result. We also excluded rearrangements of chromosome 5, 7, 8, 20, and ETV6 by FISH. Sole trisomy 22 not associated with inv(16) is a true entity.