PMID- 19128831 OWN - NLM STAT- MEDLINE DCOM- 20090729 LR - 20161125 IS - 1873-5835 (Electronic) IS - 0145-2126 (Linking) VI - 33 IP - 10 DP - 2009 Oct TI - Y-chromosome loss as the sole karyotypic anomaly with 3'RARalpha submicroscopic deletion in a case of M3r subtype of acute promyelocytic leukemia. PG - 1433-5 LID - 10.1016/j.leukres.2008.11.026 [doi] AB - Acute promyelocytic leukemia (APL) is characterized by the presence of a chromosomal rearrangement involving retinoic acid receptor alpha (RARalpha) gene generating the X-RARalpha fusion. We describe here a unique RARalpha gene rearrangement in a patient with M3r subtype of APL. Conventional cytogenetic analysis revealed Y-chromosome loss as the sole karyotypic anomaly. No X-RARalpha fusion was detected by fluorescence in situ hybridization (FISH) using PML/RARalpha dual-color dual-fusion translocation probe set, or RARalpha dual-color break apart rearrangement probe or reverse-transcription polymerase chain reaction (RT-PCR). However, FISH using RARalpha dual-color break apart rearrangement probe showed a deletion of the entire 3'-end of one allele of RARalpha gene. To our knowledge, this is the first documented APL with 3'RARalpha submicroscopic deletion which is not associated with X-RARalpha fusion. The molecular consequences of this anomaly remain to be elucidated. FAU - Han, Yongsheng AU - Han Y AD - The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis, 188 Shizi Street, Suzhou, 215006, PR China. FAU - Xue, Yongquan AU - Xue Y FAU - Zhang, Jun AU - Zhang J FAU - Pan, Jinlan AU - Pan J FAU - Wu, Yafang AU - Wu Y FAU - Bai, Shuxiao AU - Bai S LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20090106 PL - England TA - Leuk Res JT - Leukemia research JID - 7706787 RN - 0 (RARA protein, human) RN - 0 (Receptors, Retinoic Acid) RN - 0 (Retinoic Acid Receptor alpha) SB - IM MH - Adult MH - *Chromosome Aberrations MH - *Chromosome Deletion MH - Chromosomes, Human, Y/*genetics MH - Disseminated Intravascular Coagulation/genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Leukemia, Myeloid, Acute/*genetics/pathology MH - Partial Thromboplastin Time MH - Receptors, Retinoic Acid/*genetics MH - Retinoic Acid Receptor alpha MH - Reverse Transcriptase Polymerase Chain Reaction MH - Young Adult EDAT- 2009/01/09 09:00 MHDA- 2009/07/30 09:00 CRDT- 2009/01/09 09:00 PHST- 2008/09/11 00:00 [received] PHST- 2008/11/20 00:00 [revised] PHST- 2008/11/25 00:00 [accepted] PHST- 2009/01/09 09:00 [entrez] PHST- 2009/01/09 09:00 [pubmed] PHST- 2009/07/30 09:00 [medline] AID - S0145-2126(08)00527-4 [pii] AID - 10.1016/j.leukres.2008.11.026 [doi] PST - ppublish SO - Leuk Res. 2009 Oct;33(10):1433-5. doi: 10.1016/j.leukres.2008.11.026. Epub 2009 Jan 6.