A case of acute promyelocytic leukemia with variant t(5;17) and trisomy 22.
- Author:
Hai-rong QIU
1
;
Jian-yong LI
;
Kou-rong MIAO
;
Rong WANG
;
Jian-fu ZHANG
;
Wei XU
Author Information
- Publication Type:Case Reports
- MeSH: Adolescent; Adult; Aged; Child; Child, Preschool; Chromosomes, Human, Pair 17; Chromosomes, Human, Pair 22; Chromosomes, Human, Pair 5; Female; Gene Rearrangement; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Leukemia, Promyelocytic, Acute; genetics; Male; Middle Aged; Oncogene Proteins, Fusion; genetics; Translocation, Genetic; Trisomy; Young Adult
- From: Chinese Journal of Medical Genetics 2008;25(4):430-433
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo report a case of acute promyelocytic leukemia (APL) with variant t(5;17)(q35;q21) and to explore its laboratory and clinical features.
METHODSConventional cytogenetics (CC) was used for karyotyping. Fluorescence in situ hybridization (FISH) and multiplex fluorescence in situ hybridization (M-FISH) were also performed to identify the chromosomal aberrations.
RESULTSThe karyotype of the patient was 47, XY, t(5;17), +22. FISH analysis showed PML-RAR aleph negative but 77% cells had a rearrangement or duplication of the RAR aleph gene. BCR-ABL was negative but 74% cells had abnormality of chromosome 22. M-FISH confirmed the abnormalities are of chromosomes 5 and 17 rearrangement and trisomy 22.
CONCLUSIONVariant t(5;17) giving rise to the fusion gene of NPM-RAR aleph rarely occurs in APL patients. No Auer rods were identified by morphological study. It usually contains some extra chromosomal aberrations. It is sensitive to all-trans retinoic acid but has a high risk of relapse. If it goes with diffuse intravascular coagulation or high count of WBC, it usually indicates a poor prognosis.
