T lymphoblastic lymphoma with BCR-ABL negative chronic myeloid leukaemia: a novel association

Faizan, Mahwish; Anwar, Saadia; Ain, Rahat Ul; Zafar, Huma; Saqlain, Nazish; Rathore, Zunaira

doi:10.3332/ecancer.2021.1221

Cited by 1 publication

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“…In addition, the secondary neoplasia of a T-cell non-Hodgkin’s lymphoma (T-NHL) obscured the diagnosis, leading to the assumption of initial treatment failure. Although concurrent neoplasias are described in CML patients ( 22 – 25 ), they are still a diagnostic as well as therapeutic challenge. In our case, the atypical phenotype led to the assumption of CML infiltration of the skin, whereas autopsy revealed the diagnosis of a CD2-negative T-NHL.…”

Section: Discussionmentioning

confidence: 99%

Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report

et al. 2022

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The presence of the translocation t(9;22)(q34;q11), leading to the BCR::ABL1 fusion transcript, is the hallmark of chronic myeloid leukemia (CML). Nevertheless, atypical presentation at diagnosis can be challenging. However, although most patients with CML are diagnosed with the e13a2 or e14a2 BCR::ABL1 fusion transcripts, about 5% of them carry rare BCR::ABL1 fusion transcripts, such as e19a2, e8a2, e13a3, e14a3, e1a3, and e6a2. In particular, the e6a2 fusion transcript has been associated with clinically aggressive disease frequently presenting in accelerated or blast crisis phases. To date, there is limited evidence on the efficacy of front-line second-generation tyrosine kinase inhibitors for this genotype. Here, we report two patients, in whom the diagnosis of CML was challenging. The use of primers recognizing more distant exons from the common BCR::ABL1 breakpoint region correctly identified the atypical BCR::ABL1 e6a2 fusion transcript. Treatment with the second-generation tyrosine kinase inhibitor nilotinib was effective in our patient expressing the atypical e6a2 BCR::ABL1 fusion transcript.

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Section: Discussionmentioning

confidence: 99%