Molecular genetic characterization of Philadelphia chromosome-positive acute myeloid leukemia

Zhou, Qianghua; Zhao, Davidson; Eladl, Entsar; Capo‐Chichi, José‐Mario; Kim, Dennis Dong Hwan; Chang, Hong

doi:10.1016/j.leukres.2022.107002

Cited by 8 publications

(6 citation statements)

References 28 publications

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“…Because 2022 ELN risk classification indicates that high-risk chromosomal abnormalities take precedence over NPM1 mutations, we did not exclude patients who had both NPM1 mutations and BCR::ABL1. With this definition, we confirmed previous reports showing that, compared with CML-BP, de novo BCR::ABL1 + AML present with fewer additional chromosomal abnormalities, no ABL1 mutations and a sizeable frequency of NPM1 co-mutations [5,7,14,15]. Moreover, we showed a higher number of mutations in de novo BCR::ABL1 + AML although this was not statistically significant compared to CML-BP.…”

Section: Discussionsupporting

confidence: 90%

Imatinib with intensive chemotherapy in AML with t(9;22)(q34.1;q11.2)/BCR::ABL1. A DATAML registry study

Gondran,

Dumas,

Bérard

et al. 2024

Blood Cancer J.

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Acute myeloid leukemia (AML) with t(9;22) (q34.1; q11.2)/BCR::ABL1, a distinct entity within the group of AML with defining genetic abnormalities, belong to the adverse-risk group of the 2022 ELN classification. However, there is little data on outcome since the era of tyrosine kinase inhibitors. Among 5819 AML cases included in the DATAML registry, 20 patients with de novo BCR::ABL1+AML (0.3%) were identified. Eighteen patients treated with standard induction chemotherapy were analyzed in this study. Imatinib was added to chemotherapy in 16 patients. The female-to-male ratio was 1.25 and median age was 54 years. The t(9;22) translocation was the sole chromosomal abnormality in 12 patients. Main gene mutations detected by NGS were ASXL1, RUNX1 and NPM1. Compared with patients with myeloid blast phase of chronic myeloid leukemia (CML-BP), de novo BCR::ABL1+AML had higher WBC, fewer additional chromosomal abnormalities, lower CD36 or CD7 expression and no ABL1 mutations. Seventeen patients (94.4%) achieved complete remission (CR) or CR with incomplete hematologic recovery. Twelve patients were allografted in first remission. With a median follow-up of 6.3 years, the median OS was not reached and 2-year OS was 77% (95% CI: 50–91). Four out of five patients who were not transplanted did not relapse. Comparison of BCR::ABL1+AML, CML-BP, 2017 ELN intermediate (n = 643) and adverse-risk patients (n = 863) showed that patients with BCR::ABL1+AML had a significant better outcome than intermediate and adverse-risk patients. BCR::ABL1+AML patients treated with imatinib and intensive chemotherapy should not be included in the adverse-risk group of current AML classifications.

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Section: Discussionsupporting

confidence: 90%

Imatinib with intensive chemotherapy in AML with t(9;22)(q34.1;q11.2)/BCR::ABL1. A DATAML registry study

Gondran,

Dumas,

Bérard

et al. 2024

Blood Cancer J.

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“…These results were in line with the WHO classification [6]. The BCR::ABL1 fusion detected in AML patients in both groups was characterized by the presence of bone marrow and peripheral blood myeloblasts, with features ranging from minimal differentiation to granulocytic maturation, a rare type of AML (≤1%) with recurrent genetic abnormalities, and was associated with poor prognosis [11]. However, this fusion was seen more frequently (1.25%) in our study than in the literature in both groups.…”

Section: Discussionsupporting

confidence: 85%

Evaluation of New Generation Sequencing (NGS)-Based Somatic Gene Variations and Real-Time Polymerase Chain Reaction (PCR)-Based Gene Fusions in Elderly and Young Acute Leukemia Patients: A Retrospective View

Erdoğdu,

Örenay-Boyacıoğlu,

Boyacıoğlu

et al. 2024

JPM

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Malignant diseases occurring in elderly patients follow a different course from younger patients and show different genetic structures. Therefore, in this retrospective study, the somatic gene variant profile and fusion gene profiles of elderly and young acute leukemia patients were determined to draw attention to the existing genetic difference, and the results were compared. In this study, the records of 204 acute leukemia patients aged 18+ who were referred to the Molecular Pathology Laboratory from the Hematology Clinic between 2018 and 2022 were reviewed retrospectively. Fusion gene detection in patients was performed with the HemaVision®-28Q Panel. The NGS Myeloid Neoplasms Panel was conducted using the MiniSEQ NGS platform according to the manufacturer’s protocol. When all cases are evaluated together, the most frequently diagnosed acute leukemia is acute myeloid leukemia (85.8%). Both groups had a similar fusion gene profile; however, the fusion burden was higher in the elderly group. When the groups were evaluated in terms of somatic gene variations, there were differences between the groups, and the variation load was higher in the elderly group. Considering the different somatic gene variation profiles, it is understood that the genetic structure of tumor cells is different in elderly patients compared to young cases.

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“…The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia added AML with BCR-ABL1 as a new provisional category. [4] According to previous literature, [3,[5][6][7][8] the 2 entities can be distinguished through the following characteristics. First, Ph + AML does not present with clinical or laboratory features of CML, such as marked splenomegaly and peripheral blood and/or bone marrow basophilia.…”

Section: Discussionmentioning

confidence: 99%

Philadelphia chromosome-positive acute myeloid leukemia successfully treated by allogeneic hematopoietic stem cell transplantation: A case report and review of the literature

Zhang,

Wang,

Bai

et al. 2024

Medicine

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Rational: The Philadelphia chromosome (Ph) is seen in most patients with chronic myeloid leukemia and some patients with acute lymphoblastic leukemia. However, Ph-positive acute myeloid leukemia (Ph + AML) is a rare entity with a poor prognosis and a short median survival period. To date, there have been few clinical reports on this disease. And the treatment regimen of this disease has not been uniformly determined. Patient concerns: We report a case of a Ph + AML. A 32-year-old male who was admitted to our hospital with weakness for 2 months. Diagnosis: Philadelphia chromosome-positive acute myeloid leukemia. Interventions: The patient achieved complete remission by the administration of a tyrosine kinase inhibitor, combined with low-intensity chemotherapy and a B-cell lymphoma 2 inhibitor. Then, allogeneic hematopoietic stem cell transplantation (allo-HSCT) from his sister was successfully performed. Outcomes: The patient has been in a continuous remission state for 6 months after transplantation. Lessons: We reported a rare Ph + AML case, successfully treated with allo-HSCT. This case provided strong support for treating Ph + AML with allo-HSCT.

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Molecular genetic characterization of Philadelphia chromosome-positive acute myeloid leukemia

Cited by 8 publications

References 28 publications

Imatinib with intensive chemotherapy in AML with t(9;22)(q34.1;q11.2)/BCR::ABL1. A DATAML registry study

Imatinib with intensive chemotherapy in AML with t(9;22)(q34.1;q11.2)/BCR::ABL1. A DATAML registry study

Evaluation of New Generation Sequencing (NGS)-Based Somatic Gene Variations and Real-Time Polymerase Chain Reaction (PCR)-Based Gene Fusions in Elderly and Young Acute Leukemia Patients: A Retrospective View

Philadelphia chromosome-positive acute myeloid leukemia successfully treated by allogeneic hematopoietic stem cell transplantation: A case report and review of the literature

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