Bibliographic Details
| Title: |
The Many Faces of Philadelphia: A Mature T-Cell Lymphoma with Variant Philadelphia-Translocation and Duplication of the Philadelphia Chromosome. |
| Authors: |
Vida, Livia1 (AUTHOR) vida.livia@pte.hu, Horváth, Bálint1 (AUTHOR), Egyed, Miklós2 (AUTHOR), Kajtár, Béla1 (AUTHOR) kajtar.bela@pte.hu, Alizadeh, Hussain3 (AUTHOR) |
| Source: |
Hematology Reports. Feb2025, Vol. 17 Issue 1, p1. 9p. |
| Subject Terms: |
*T-cell lymphoma, *PHILADELPHIA chromosome, *CHROMOSOME duplication, *OVERALL survival, *GENETIC testing |
| Abstract: |
Background: T-cell prolymphocytic leukemia (T-PLL) is a rare mature T-cell lymphoma that is usually associated with poor prognosis and short overall survival. Methods: We present a case of a 61-year-old woman presenting with T-PLL and the leukemic cells harboring BCR::ABL1 (BCR—breakpoint cluster region; ABL1—ABL protooncogene 1) fusion transcripts as the result of a variant of t(9;22)(q34;q11) called Philadelphia translocation: t(9;22;18)(q34;q11;q21). Sequencing revealed a rare BCR transcript with an exon 6 breakpoint corresponding to e6a2 transcripts, which has thus far been reported in only 26 cases of leukemias. Results: After 9 months of follow-up, the disease progressed and required treatment. Following alemtuzumab and chemotherapy, a short course of imatinib therapy stabilized the disease for six months, which was followed by progression and the demise of the patient. Conclusions: To the best of our knowledge, this is the first report of a mature T-cell lymphoma with a variant Philadelphia-translocation and a very rare type of BCR::ABL1 transcript. This case highlights the importance of comprehensive genetic testing of malignancies, as abnormal molecular pathways may be uncovered that may be specifically targeted by drugs. [ABSTRACT FROM AUTHOR] |
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