De novo lymphoid blastic phase chronic myeloid leukemia: report and contemporary discussion. Issue 1 (31st December 2022)

• Record Type: Journal Article
• Authors: Hameed, Maha; Alnoamani, Mohammed; Marei, Mohammed; Tailor, Imran; Alshehri, Hassan; Tashkandi, Soha A.; Alswayyed, Azizah; Alrajhi, Abdullah M.; Zaidi, Syed Z. A.; Motabi, Ibraheem; AlShehry, Nawal; Alfayez, Mansour
• Is Part Of: Hematology. Volume 27:Issue 1(2022)
• Page Start: 1259
• Page End: 1262
• Publication Date: 2022-12-31
• Subjects: Tyrosine kinase inhibitor -- blastic phase CML -- ponatinib -- blinatumomab -- sudden blastic transformation -- BCR-ABL; Blood -- Diseases -- Periodicals; Hematology -- Periodicals; Blood -- Transfusion -- Periodicals; 616.15005
• DOI: 10.1080/16078454.2022.2150386
• Languages: English
• ISSNs: 1024-5332

Abstract

ABSTRACT: Objective: We herein describe two cases of de novo lymphoid blastic transformation in patients with no history of chronic-phase chronic myeloid leukemia (CP-CML), both of whom were labeled initially as Philadelphia positive B-Acute Lymphoblastic Leukemia (B-ALL). Methods: The first patient was an 18-year-old male who presented with subjective fever, intentional weight loss, generalized fatigue, and headache. Investigations showed leukocytosis (312 × 10^3/ul), thrombocytopenia and anemia. Flowcytometry was consistent with B-ALL, with aberrant expression of CD13 and CD33. He was found to be positive for BCR::ABL by FISH, and karyotype confirmed the presence of the Philadelphia chromosome. He received a pediatric-inspired regimen and achieved remission with negative measurable residual disease (MRD) by flowcytometry, however with persistent cytogenetic abnormality using FISH for BCR::ABL . FISH abnormality was confirmed to be in the myeloid compartment using myeloid segregated FISH, reclassifying the disease to de novo lymphoid blastic phase CML. The second patient was a 52-year-old male who presented with fever and shortness of breath. Bilateral cervical lymphadenopathy and hepatosplenomegaly were identified on examination, and investigations showed leukocytosis (371 × 10^3/ul), anemia, and thrombocytopenia. BCR::ABL rearrangement was identified by FISH, molecular testing, and confirmed with karyotype. He was treated with Mini-CVD and Ponatinib, achieved complete remission with negative MRD by flow cytometry, however molecular studies showed BCR-ABL1 level at 58% IS indicating a persistent cytogenetic abnormality. Results: De novo lymphoid blastic-phase CML can therefore be difficult to differentiate from Philadelphia positive B-ALL due to their overlapping clinical and laboratory picture, implying the need to do myeloid compartment evaluation at the time of diagnosis. Conclusion: With recent progress in the treatment of Philadelphia positive B-ALL, including the role of transplant with the use of novel agents, a better characterization of this disease entity in retrospective and prospective trials is warranted.