Ewha Med J.  2012 Mar;35(1):62-64. 10.12771/emj.2012.35.1.62.

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

Affiliations
  • 1Department of Laboratory Medicine, Ewha Womans University School of Medicine, Seoul, Korea. JungWonH@ewha.ac.kr
  • 2Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.

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.

Keyword

Trisomy 22; Sole; Myelodysplastic syndrome; Auer rod

MeSH Terms

Anemia, Refractory
Bone Marrow Cells
Chromosome Aberrations
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 5
Cytogenetics
Fluorescence
In Situ Hybridization
Leukemia, Myeloid, Acute
Metaphase
Myelodysplastic Syndromes
Trisomy
Chromosomes, Human, Pair 22
Trisomy
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