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<p>Additional Cytogenetic Abnormalities (ACAs) are common in blast phase of CML (Chronic Myeloid Leukemia). This study analyzed an array of additional cytogenetic abnormalities (ACA) in CML blast phase, along with their clinical presentation, prevalence, complexity, and lineage specificity. 58 subjects in the CML Blast phase were studied between January 2023 and July 2024, for their demographics, clinical presentation, lineage assessment and ACAs. Their survival rates were evaluated prospectively. Conventional cytogenetic and karyotypic analyses were performed in all cases. Among 58 subjects, 67.24% were male, and the median age at presentation was 41 years. The most common symptoms were fever (72.4%), fatigue (41.3%) and abdominal pain (25.86%). Of the cases, 22.4% presented as a de novo blast phase and 77.5% progressed from the chronic to blast phase. Extramedullary involvement was observed in 6.89% of the patients. The immunophenotype indicated myeloid (65.51%), lymphoid (32.75%), and biphenotypic (1.72%) lineage specificities. Cytogenetics revealed ACAs in 74.13% of cases, with the most common abnormalities being double Ph (44.18%), trisomy 8 (25.58%), trisomy 19 (13.95%), and inversion 3 (11.6%). Among all cases, 53.48% had complex ACAs (≥2 ACAs), whereas 46.51% had a single ACA. Double Ph was the most common ACA among the myeloid and lymphoid lineages combined. The median survival time in this study was 14 months, with a 95% confidence interval (10.955–17.045). No significant prognostic difference was observed between complex vs. single ACA (<i>p</i>= 0.147 ) or major vs. minor route abnormalities (<i>p</i>= 0.815). The myeloid lineage is most common in patients with CML-blast phase. The common ACAs observed were double Ph, trisomy 8, trisomy 19, and inversion 3. Fever is the most common symptom. Patients with complex ACA showed a trend towards poorer outcomes. Inversion 3, which is typical of AML and MDS, may indicate a poor response to TKI. Owing to the relatively small sample size, further studies with larger cohorts are recommended to evaluate the prognostic impact of individual ACAs.</p>

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Cytogenetic Landscape and Clinical Profile of CML Patients Presenting in Blast Phase: an Ambispective Study from A Regional Cancer Centre in South India

  • 期刊论文

  • 发表日期：

    2026年1月10日

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  • Smitha C. Saldanha,
  • Kartik Gajanan Asutkar,
  • S. Shanthala,
  • A. H. Rudresh,
  • Vivek B. Maleyur,
  • M. C. Suresh Babu,
  • K. N. Lokesh,
  • L. K. Rajeev,
  • Linu Abraham Jacob

摘要

Additional Cytogenetic Abnormalities (ACAs) are common in blast phase of CML (Chronic Myeloid Leukemia). This study analyzed an array of additional cytogenetic abnormalities (ACA) in CML blast phase, along with their clinical presentation, prevalence, complexity, and lineage specificity. 58 subjects in the CML Blast phase were studied between January 2023 and July 2024, for their demographics, clinical presentation, lineage assessment and ACAs. Their survival rates were evaluated prospectively. Conventional cytogenetic and karyotypic analyses were performed in all cases. Among 58 subjects, 67.24% were male, and the median age at presentation was 41 years. The most common symptoms were fever (72.4%), fatigue (41.3%) and abdominal pain (25.86%). Of the cases, 22.4% presented as a de novo blast phase and 77.5% progressed from the chronic to blast phase. Extramedullary involvement was observed in 6.89% of the patients. The immunophenotype indicated myeloid (65.51%), lymphoid (32.75%), and biphenotypic (1.72%) lineage specificities. Cytogenetics revealed ACAs in 74.13% of cases, with the most common abnormalities being double Ph (44.18%), trisomy 8 (25.58%), trisomy 19 (13.95%), and inversion 3 (11.6%). Among all cases, 53.48% had complex ACAs (≥2 ACAs), whereas 46.51% had a single ACA. Double Ph was the most common ACA among the myeloid and lymphoid lineages combined. The median survival time in this study was 14 months, with a 95% confidence interval (10.955–17.045). No significant prognostic difference was observed between complex vs. single ACA (p= 0.147 ) or major vs. minor route abnormalities (p= 0.815). The myeloid lineage is most common in patients with CML-blast phase. The common ACAs observed were double Ph, trisomy 8, trisomy 19, and inversion 3. Fever is the most common symptom. Patients with complex ACA showed a trend towards poorer outcomes. Inversion 3, which is typical of AML and MDS, may indicate a poor response to TKI. Owing to the relatively small sample size, further studies with larger cohorts are recommended to evaluate the prognostic impact of individual ACAs.