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akaturk Akademik ölçüm

Makale detayı · 2026

Cytogenetic Diversity of Variant Philadelphia Translocations in Chronic Myeloid Leukemia

YÖKSİS OpenAlex Açık erişim · hybrid SJR Q2 JCR Q3 Atıf 0 Yüzdelik 39.9% FWCI 0.0
Yıl
2026
Tür
article

Veri kaynağı ayrımı

  • YÖKSİS YÖKSİS makale kaydı
  • YÖKSİS dergi adı International Journal of Laboratory Hematology
  • Katalog eşleşmesi (ISSN) International Journal of Laboratory Hematology
  • OpenAlex OpenAlex zenginleştirmesi (özet, atıf, konular)

Özet

OpenAlex · İngilizce

INTRODUCTION: Chronic myeloid leukemia (CML) is a disease characterized by Philadelphia (Ph) translocations. These translocations can be classical or variant. The structural features and diagnostic implications of variant Philadelphia translocations remain incompletely defined, and they display considerable cytogenetic heterogeneity. METHODS: In this retrospective study, variant Ph translocations identified by conventional cytogenetic analysis and fluorescence in situ hybridization (FISH) were systematically classified among 639 patients diagnosed with CML. A total of 35 patients with variant Ph translocations were included in the analysis. Molecular follow-up data, when available, were assessed using RT-qPCR analyses in a subset of patients. RESULTS: Chromosome analysis revealed 2 simple and 33 complex variant Ph translocations. FISH analysis, performed in 20 patients, identified deletions involving BCR, ABL1, or both in a limited number of cases. Additional chromosomal abnormalities and secondary translocations accompanied variant Ph translocations in four patients. The partner chromosomes involved in variant Ph translocations showed marked diversity, involving multiple chromosomal loci. CONCLUSION: Variant Philadelphia chromosome translocations in CML exhibit substantial cytogenetic diversity, reflecting the complexity of their underlying genomic architecture. The rarity and heterogeneity of these rearrangements complicate their classification and interpretation in routine diagnostic practice. Descriptive reporting of variant Ph translocations may contribute to a better understanding of their diagnostic complexity and support more accurate cytogenetic interpretation in CML.

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Yazarlar

  1. AYŞE GÜL BAYRAK TOKAÇ
  2. AYNUR ADAY
  3. SİMGE ERDEM İSTANBUL ÜNİVERSİTESİ
  4. GÜLÇİN BAĞATIR
  5. BURAK DON
  6. ÖZDEN ÖZCAN
  7. AKİF SELİM YAVUZ
  8. SEVGİ BEŞIŞIK
  9. MELİHA NALÇACI
  10. KIVANÇ ÇEFLE
  11. ŞÜKRÜ ÖZTÜRK