Variant Philadelphia t(X;9;22)(q22?;q34;q11.2) can be successfully treated with second generation tyrosine kinase inhibitors: A case report and literature review
- Ana Iglesias
- Raluca Oancea
- Carmen Cotarelo
- Eduardo Anguita
Affiliations: Clinical Genetics Unit, Clinical Analysis Department, Instituto de Medicina de Laboratorio, IdISSC, Hospital Clínico San Carlos, Madrid 28040, Spain, Hematology Department, Instituto de Medicina de Laboratorio, IdISSC, Hospital Clínico San Carlo, Madrid 28040, Spain
- Published online on: August 9, 2021 https://doi.org/10.3892/br.2021.1459
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Chronic myeloid leukemia (CML) is characterized by the reciprocal translocation between chromosomes 9 and 22: t(9;22)(q34;q11). However, 5‑10% of patients with CML have complex variant translocations involving at least a third chromosome; only a few cases affect the X chromosome. Therefore, the data available regarding their features and the response to treatment is limited. In the present report, a case of a variant Philadelphia translocation t(X;9;22)(q22?;q34;q11.2) identified in a 51‑year‑old female with a newly diagnosed CML is described. The patient was treated with nilotinib. A major molecular response was observed after 12 months of starting treatment. Deep molecular response was obtained 20 months later and maintained after the 110‑month follow‑up. Additionally, a literature review was performed, with the aim of comprehending the complex clinical and biological characteristics of CML cytogenetic variants involving the X chromosome.