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CEUDHE52101 - CME - Variant Acute Promyelocytic Le ...
CEUDHE52101 - Educational Activity
CEUDHE52101 - Educational Activity
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The case study discusses a rare instance of variant acute promyelocytic leukemia (vAPL), which poses diagnostic challenges due to its unique genetic mutations and its atypical presentation in histopathological and flow cytometric analyses. The case features a 44-year-old male initially misdiagnosed with chronic myelomonocytic leukemia (CMML), but later correctly identified with vAPL, a rare leukemia type characterized by a translocation t(11;17)(q23;q21), involving ZBTB16/RARα.<br /><br />This variant leukemia lacks the classic Auer rods seen in traditional acute promyelocytic leukemia (APLs) and has distinct cytogenetic features revealed through fluorescence in situ hybridization (FISH) and karyotype analysis. Flow cytometric findings noted an abnormal granulocytic maturation pattern and specific immunophenotypic markers, which contributed to the diagnostic confusion.<br /><br />Due to its atypical nature, this vAPL variant was unresponsive to standard ATRA and arsenic-based treatments usually effective for typical APL (t(15;17)). A novel treatment regime using fludarabine, cytarabine, granulocyte-colony stimulating factor (G-CSF), idarubicin, and venetoclax, which targets pathways associated with leukemia cell survival and differentiation, led to the patient's complete remission.<br /><br />The study underscores the essential role of genetic and cytogenetic analyses for accurate leukemia diagnosis and effective treatment planning. It calls attention to the necessity of heightened awareness among pathologists and clinicians about vAPL’s unique features and therapeutic responses, emphasizing the potential efficacy of custom treatment approaches based on specific molecular mechanisms in cases where standard therapies fail.
Keywords
variant acute promyelocytic leukemia
vAPL
diagnostic challenges
genetic mutations
histopathological analysis
flow cytometric analysis
translocation t(11;17)(q23;q21)
ZBTB16/RARα
custom treatment
cytogenetic features
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