Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:Q8NB91 (FAB)
 3,573 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acute promyelocytic leukemia (APL; M3 in the FAB classification) is specifically associated with the t(15;17)(q23;q12) and the consequent formation of a PML/RARA fusion gene. A few cases of APL with a t(11;17)(q23;q12) and a PLZF/RARA fusion gene have recently been reported. In addition, a new variant, t(5;17)(q32;q12), with a RARA rearrangement was described in a child with atypical APL. We report an unbalanced der(5)t(5;17) in an atypical APL case showing unusual dysgranulopoiesis and some M2 features. The breakpoints were difficult to localize precisely on chromosome 5, because the translocation may have occurred on a previous del(5q). The karyotype also showed del(8q) and multiple double-minutes (dmin). Molecular studies evidenced RARA rearrangement but showed neither PML rearrangement nor PML/RARA fusion. Fluorescence in situ hybridization revealed that the dmin were of chromosome 8 origin and that they accounted for the MYC amplification observed in Southern blots. The patient did very poorly despite chemotherapy and all-trans retinoic acid (ATRA) treatment. Thus, the t(5;17) could represent a second type of variant translocation in APL that, like the disease associated with t(11;17), does not seem to respond to ATRA therapy. Whereas RARA rearrangement appears sufficient for an APL-like phenotype, it seems that the presence of a classical PML/RARA is required for typical APL with response to ATRA.
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PMID:Unbalanced translocation t(5;17) in an typical acute promyelocytic leukemia. 860 20

Acute promyelocytic leukemia (APL) is genetically characterized by a reciprocal translocation between chromosomes 15 and 17, the t(15;17)(q22;q21), which results in the fusion gene PML/RARA. A small proportion of patients with APL have complex or simple variants of this translocation. We report the case of a 31-year-old woman with APL (FAB-M3 classical form) carrying an apparently balanced translocation t(17;20)(q21;q12) masking a t(15;17)(q22;q21) confirmed by fluorescence in situ hybridization (FISH) and molecular studies. The patient was treated with an all-trans-retinoic acid (ATRA) plus anthracycline-based protocol and achieved complete remission, with no recurrence to date. These results illustrate the usefulness of combining cytogenetics, FISH, and reverse transcription-polymerase chain reaction (RT-PCR) methods to evidence the PML/RARA fusion gene in cases with morphologic suspicion of APL with variant or cryptic t(15;17).
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PMID:A t(17;20)(q21;q12) masking a variant t(15;17)(q22;q21) in a patient with acute promyelocytic leukemia. 1677 24

We report here two cases of patients with acute myeloblastic leukemia, type M1 (FAB classification), associated with a t(10;17)(p15;q21). Fluorescence in situ hybridization with the LSI PML/RARA dual-color probe showed the breakpoint to be distal to the RARA locus. Four other patients with this translocation have been reported, three of them having acute undifferentiated or poorly differentiated leukemia.
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PMID:Translocation (10;17)(p15;q21) is a recurrent anomaly in acute myeloblastic leukemia. 1717 84

Despite the impressive results obtained with standard chemotherapy, approximately 20% of acute promyelocytic leukemia (APL) patients undergo disease relapse thereby requiring salvage therapy. Few data is available on long-term prognosis in relation to time to complete remission (CR): we reviewed 142 patients treated with AIDA protocols and we found that 42 out of 142 (29.6%) patients achieved CR after 35 days (median time, 42 days). No significant differences in presenting features, including FAB subtype, type of PML/RARA transcript and relapse risk at presentation between the two patient groups achieving CR > or <35 days were revealed, except for male sex and older age that were significantly associated with delayed CR. Rate of relapse was 31% in patients with delayed CR compared to 17% in the group of patients who achieved CR<35 days (p=0.001), with a 5-year CIR of 29.6% compared to 12% (p=0.03). APL patients with delayed CR should be more closely monitored during follow-up for early identification of relapse and prompt administration of pre-emptive salvage therapy.
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PMID:Influence of time to complete remission and duration of all-trans retinoic acid therapy on the relapse risk in patients with acute promyelocytic leukemia receiving AIDA protocols. 2325 88

Acute promyelocytic leukemia (APL) is genetically characterized by a reciprocal translocation between chromosomes 15 and 17, t(15;17)(q22;q21), which results in the fusion gene PML-RARA. A small proportion of patients with APL have complex or simple variants of this translocation. With conventional cytogenetic methods, these translocations are detected in about 70-90 % of patients, with most of the negative results due to technical problems or cryptic variants. Those masked PML/RARA fusions can be identified by molecular analyses such as reverse transcriptase-polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH). We report the case of a 58-year-old man showing morphological, cytochemical, and immunophenotypic features of hypergranular APL (FAB-M4). PML-RARA transcripts were not evident on RT-PCR. Although cytogenetic tests revealed the presence of an apparently balanced translocation t(15;17)(q24;q11) with an abnormal chromosome 12 that characterized a M3 leukemia. This karyotypic interpretation was confirmed by FISH with the use of painting probes of chromosomes 12, 15, and 17 and a PML-RARA dual-color DNA probe. FISH showed a PML-RARA fusion gene on the der(12) instead of the der(15). The patient was treated with an all-trans retinoic acid (ATRA) plus anthracycline-based protocol and achieved complete remission, with no recurrence to date. These results illustrate the usefulness of combining cytogenetics and FISH methods to evidence the PML/RARA fusion gene in cases with morphologic suspicion of APL with variant or cryptic t(15;17).
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PMID:A PML/RARA chimeric gene on chromosome 12 in a patient with acute promyelocytic leukemia (M4) associated with a new variant translocation: t(12;15;17)(q24;q24;q11). 2329 68