PMID- 10564584 OWN - NLM STAT- MEDLINE DCOM- 20000207 LR - 20131121 IS - 1045-2257 (Print) IS - 1045-2257 (Linking) VI - 27 IP - 1 DP - 2000 Jan TI - Two new 3' PML breakpoints in t(15;17)(q22;q21)-positive acute promyelocytic leukemia. PG - 35-43 AB - In the present article, two new types of PML/RARA junctions are described. Both were identified in diagnostic samples from two t(15;17)(q22;q21)-positive acute promyelocytic leukemia (APL) patients who failed to achieve complete remission. By using different sets of primers, reverse transcriptase polymerase chain reaction (RT-PCR) of PML/RARA junctions showed atypical larger bands compared with those generated from the three classical PML breakpoints already described. Sequence analysis of the fusion region of the amplified cDNAs allowed us to determine the specificity of these fragments in both patients. This analysis showed two new hybrid transcripts that were 53 and 306 base pairs (bp) longer than that expressed by the NB4 cell line (PML breakpoint within intron 6), and are the result of the direct joining of RARA exon 3 with PML exon 7a (patient 2) or the 5' portion of PML exon 7b (patient 1), respectively. In patient 1, RT-PCR analysis of the reciprocal RARA/PML junction showed a smaller transcript than that expected in bcr1 cases, while in patient 2 no amplified fragment was obtained. Cytogenetic analysis and/or fluorescence in situ hybridization (FISH) showed that both patients had the t(15;17) translocation. The clinical and hematological profiles expressed by the two patients carrying these unexpected types of PML/RARA rearrangement did not differ significantly from that commonly seen in other APLs with the exception of the poor outcome. Genes Chromosomes Cancer 27:35-43, 2000. CI - Copyright 2000 Wiley-Liss, Inc. FAU - Chillon, M C AU - Chillon MC AD - Hematology Service, Hospital Universitario de Salamanca and Centro de Investigacion del Cancer (CIC), Universidad de Salamanca/CSIC, Salamanca, Spain. FAU - Gonzalez, M AU - Gonzalez M FAU - Garcia-Sanz, R AU - Garcia-Sanz R FAU - Balanzategui, A AU - Balanzategui A FAU - Gonzalez, D AU - Gonzalez D FAU - Lopez-Perez, R AU - Lopez-Perez R FAU - Mateos, M V AU - Mateos MV FAU - Alaejos, I AU - Alaejos I FAU - Rayon, C AU - Rayon C FAU - Arbeteta, J AU - Arbeteta J FAU - Hernandez, J M AU - Hernandez JM FAU - Orfao, A AU - Orfao A FAU - San Miguel, J AU - San Miguel J LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Genes Chromosomes Cancer JT - Genes, chromosomes & cancer JID - 9007329 RN - 04079A1RDZ (Cytarabine) RN - 5688UTC01R (Tretinoin) RN - ZRP63D75JW (Idarubicin) SB - IM MH - Adult MH - Antineoplastic Combined Chemotherapy Protocols/therapeutic use MH - Base Sequence MH - Chromosomes, Human, Pair 15/*genetics MH - Chromosomes, Human, Pair 17/*genetics MH - Cytarabine/administration & dosage MH - Exons/genetics MH - Fatal Outcome MH - Humans MH - Idarubicin/administration & dosage MH - Leukemia, Promyelocytic, Acute/drug therapy/*genetics MH - Male MH - Molecular Sequence Data MH - Reverse Transcriptase Polymerase Chain Reaction MH - Translocation, Genetic/*genetics MH - Tretinoin/administration & dosage EDAT- 1999/11/24 00:00 MHDA- 1999/11/24 00:01 CRDT- 1999/11/24 00:00 PHST- 1999/11/24 00:00 [pubmed] PHST- 1999/11/24 00:01 [medline] PHST- 1999/11/24 00:00 [entrez] AID - 10.1002/(SICI)1098-2264(200001)27:1<35::AID-GCC5>3.0.CO;2-W [pii] PST - ppublish SO - Genes Chromosomes Cancer. 2000 Jan;27(1):35-43.