Mixed-Phenotype Acute Leukemia: Diagnostic Criteria and Pitfalls

Charles, Nathan J.; Boyer, Daniel F.

doi:10.5858/arpa.2017-0218-ra

Cited by 59 publications

(71 citation statements)

References 38 publications

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“…Genomic anomalies could be the cause of the maturation arrest and chemotherapy resistance of these populations with apparently aberrant immunophenotypes. This new vision of hematopoiesis is also consistent with what is often referred to as the “plasticity” of MPALs immunophenotype and translates in changes of blast immunophenotype both during in vitro culture and the natural history of a given patient .…”

Section: Pathophysiological Hypothesessupporting

confidence: 70%

Multiparameter flow cytometry applications in the diagnosis of mixed phenotype acute leukemia

Porwit

Béné²

2019

Cytometry Part B Clinical

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Mixed phenotype acute leukemias (MPALs) represent a rare subgroup of acute leukemias with a poor prognosis. Proper diagnosis and classification of MPAL is extremely important for patients' outcome. Morphology and flow cytometry recognize two types of MPAL: the “bilineal” MPAL with the coexistence of two blast populations of different lineage and truly “biphenotypic” MPAL coexpressing markers of more than one lineage in a homogenous blast population, respectively. The WHO 2008 classification further delineated three categories: associated with t(9;22)/BCR‐ABL1 fusion gene, associated with KMT2A (mixed lineage leukemia) rearrangements, and nonotherwise specified. These categories remained unchanged in the WHO2016 update. Molecular studies have further underlined the heterogeneity of MPAL. In this review, rules for the correct assignment of acute leukemia to the MPAL category are discussed, including both flow cytometry and immunohistochemistry on bone marrow or other tissues biopsies. Comparison of the immunophenotypic classification proposals is provided outlining the explorations mandatory for definitive diagnosis. An extensive review of published data summarizes the reported cytogenetic and molecular anomalies. New developments in the understanding of the early stages of hematopoiesis provide clues to the possible etiopathology of these diseases. Finally, current treatment recommendations are summarized and referenced for clinical use, pointing out that allogeneic hematopoietic stem cell transplantation at an early stage should be considered (at least in adult patients). © 2019 International Clinical Cytometry Society

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Section: Pathophysiological Hypothesessupporting

confidence: 70%

Multiparameter flow cytometry applications in the diagnosis of mixed phenotype acute leukemia

Porwit

Béné²

2019

Cytometry Part B Clinical

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“…Based on these observations, it is our institutional policy to only diagnose ETP‐ALL and MPAL T/M after evaluation of MPO expression in the BM aspirate by cytochemical staining. Similar protocols that rely on cytochemical MPO staining to resolve the diagnosis of MPAL versus ALL in cases of borderline positive MPO expression by flow cytometry have been reported at other institutions as well …”

Section: Discussionmentioning

confidence: 83%

Peripheral blood flow cytometry for the diagnosis of pediatric acute leukemia: Highly reliable with rare exceptions

Cheng

Klairmont

Choi

2018

Pediatric Blood & Cancer

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Background: Recent data have demonstrated the high sensitivity and specificity of peripheral blood flow cytometry (PBFC) for the diagnosis of pediatric leukemia; however, diagnostically significant immunophenotypic discrepancies between PBFC and bone marrow (BM) evaluation, which result in different lineage assignment and treatment protocols, can rarely occur. Here, we sought to further characterize the performance of PBFC for pediatric leukemia and highlight the exceptions when PBFC can result in misdiagnosis. Methods: An institutional database was searched between 2012 and 2016 for cases of acute leukemia with concurrent PBFC and BM evaluation. Immunophenotyping results from the peripheral blood and BM using four or eight color flow cytometry, as well as BM cytochemical staining and immunohistochemistry, were compared. Results: Two hundred ninety PBFC samples with concurrent BM evaluation were identified. Based on the final immunophenotypic classification, the cases were distributed as follows: 108 B-lymphoblastic leukemia (B-ALL), 57 T-lymphoblastic leukemia (T-ALL), 116 acute myeloid leukemia (AML), and 9 mixed-phenotype acute leukemia (MPAL). Among all cases, five had a diagnostically significant discrepancy between PBFC and BM evaluation. In three cases, the immunophenotype by PBFC was consistent with early T-cell precursor ALL (ETP-ALL), whereas BM evaluation demonstrated MPAL. Two cases were suspicious for acute megakaryoblastic leukemia (AMKL) and MPAL, T/myeloid by PBFC but were diagnosed as B-ALL and T-ALL in the BM. Conclusion: Immunophenotypic classification by PBFC is accurate (>98%) in almost all cases of pediatric leukemia with the rare exceptions of suspected ETP-ALL, MPAL, and AMKL. These PBFC diagnoses should be confirmed with BM immunophenotyping. K E Y W O R D S acute lymphoblastic leukemia, acute myeloid leukemia, early T-cell precursor acute lymphoblastic leukemia, mixed-phenotype acute leukemia, pediatric leukemia, peripheral blood flow cytometry

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“…In our case it could correspond to an indolent lymphoblastic proliferation as those reported in Castleman disease, follicular dendritic cell sarcomas, angioimmunoblastic T-cell lymphomas, hepatocarcinomas, or acinic cell carcinomas (16,17). Nevertheless, as both IgH and TCR rearrangement and genetic study were not performed we cannot rule out that such infiltrate is tumoral or corresponds to an acute leukemia with mixed monoblastic and lymphoblastic phenotype (18). On this topic, it is important to remark that many of these T lymphoblasts showed PAX5 nuclear stain with variable intensity (Fig 1H).…”

Section: Sirmentioning

confidence: 97%

Mediastinal and pleuropulmonary myeloid sarcoma with HBME1 and podoplanin expression. A diagnostic pitfall

Suárez‐Vilela¹,

Izquierdo

2019

APMIS

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Mixed-Phenotype Acute Leukemia: Diagnostic Criteria and Pitfalls

Cited by 59 publications

References 38 publications

Multiparameter flow cytometry applications in the diagnosis of mixed phenotype acute leukemia

Multiparameter flow cytometry applications in the diagnosis of mixed phenotype acute leukemia

Peripheral blood flow cytometry for the diagnosis of pediatric acute leukemia: Highly reliable with rare exceptions

Mediastinal and pleuropulmonary myeloid sarcoma with HBME1 and podoplanin expression. A diagnostic pitfall

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