Diagnosis of rare subtypes of acute myeloid leukaemia and related neoplasms

George, Tracy I.; Bajel, Ashish

doi:10.1016/j.pathol.2021.02.001

Cited by 7 publications

(4 citation statements)

References 91 publications

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“…However, the monocytic marker CD64 is found as well, which favors AMoL rather than BPDCN [ 2 ]. MPO expression, as found in the patient, is found more commonly in AMoL than in BPDCN [ 1 ]. In terms of molecular testing, the KMT2A rearrangement on chromosome 11, as demonstrated by FISH, is another commonality between the conditions [ 4 , 5 ].…”

Section: Discussionmentioning

confidence: 99%

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A Case of Acute Myeloid Leukemia Mimicking Blastic Plasmacytoid Dendritic Cell Neoplasm: Utility of the Proposed Upcoming WHO-5 Diagnostic Criteria

Jhajj,

Henrie,

El-Khalidy

et al. 2023

Case Reports in Hematology

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Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive hematologic malignancy which is associated with a distinctive morphologic appearance. However, the morphology is not specific, and diagnostic characterization requires integration of immunophenotypic and genetic testing. We herein report a case of a 35-year-old female patient who presented with worsening cytopenia. A bone marrow aspirate identified medium-sized blastic cells with perinuclear microvacuoles (“pearl neckless”). Occasional blasts demonstrated a “hand mirror” appearance. Tandem flow cytometry showed an atypical population of dim CD45 events with expression of CD4, CD56, CD117, CD123, and monocytic markers such as CD64. Fluorescence in situ hybridization (FISH) showed evidence of a KMT2A rearrangement with an unknown partner on chromosome 19. Expression of MPO and muramidase was present. The final diagnosis was acute monocytic leukemia (AMoL). Due to the overlapping features of acute myeloid leukemia and BPDCN, the 5th Edition of the World Health Organization (WHO) Classification of Haematolymphoid Tumours provides new criteria for the diagnosis of BPDCN. Our case highlights the utility of these criteria.

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Section: Discussionmentioning

confidence: 99%

“…BPDCN and AMoL are both aggressive hematologic malignancies with distinct prognoses and treatments [ 1 ]. BPDCN is a historically rare diagnosis that often presents with skin lesions [ 1 ]. The differential diagnosis includes acute myeloid leukemia, particularly AMoL [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

A Case of Acute Myeloid Leukemia Mimicking Blastic Plasmacytoid Dendritic Cell Neoplasm: Utility of the Proposed Upcoming WHO-5 Diagnostic Criteria

Jhajj,

Henrie,

El-Khalidy

et al. 2023

Case Reports in Hematology

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“…3 The presence of certain recurrent genetic abnormalities, such as t(15;17)(q24;q21); PML::RARA in acute promyelocytic leukemia, and t(8;21)(q22;q22.1); RUNX1::RUNX1T1 and inv(16)(p13.1q22) or t(16;16)(p3.1;q22); CBFB::MYH11 in core binding factor AMLs, may also be used to diagnose AML, even with less than 20% blasts. 4 In a study by Tamayo et al (2021), most Filipino pediatric cases of de novo AML have a normal karyotype (12/20) and harbors CBFB::MYH11 (7/20). 5 While a normal karyotype is associated with a generally intermediate prognosis, the same study also shows that cytogenetically normal patients may harbor significant alterations in CEBPA, FLT3, PML, RARA, TET2, ASXL1, NPM1, RUNX1, RUNX1T1, and ZRSR2.…”

Section: Introductionmentioning

confidence: 99%

RUNX1::RUNX1T1 Fusion in Pediatric Acute Myeloid Leukemia: A Description of Two Cases

Jaime,

Medalla,

Tamayo

et al. 2023

PJP

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RUNX1::RUNX1T1 is a core-binding factor driving fusion gene which arises from t(8;21)(q22;q22). It is one of the most common chromosomal rearrangements in both pediatric and adult Acute Myeloid Leukemia (AML) with a reported incidence of 15% in children and young adults. There are few case reports documenting RUNX1::RUNX1T1 translocation in pediatric AML. Although this is generally associated with a favorable prognosis, we report two (2) cases of de novo pediatric AML in the Philippines harboring a RUNX1::RUNX1T1 translocation, one eventually relapsed while the other attained remission but succumbed to sepsis.

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“…AML with RUNX1 mutation (RUNX1 mut ) is a provisional entity in the WHO 2016 classification of hematopoietic neoplasms [3], to be considered after excluding other AML categories such as AML with recurrent genetic abnormalities, AML with MDS-related changes (AML-MRC) and therapy-related AML (t-AML). RUNX1 mut AML is most often purely blastic by cytological assessment and myeloperoxidase-negative, corresponding to AML with minimal differentiation [2][3][4]. In some leukemias with RUNX1 mut , mixed-phenotype acute leukemia (MPAL) characteristics can, however, be present [5], and RUNX1 mut has also been associated with AML cases with a plasmacytoid dendritic cell (PDC) component [6,7].…”

Section: Introductionmentioning

confidence: 99%

The Plasmacytoid Dendritic Cell CD123+ Compartment in Acute Leukemia with or without RUNX1 Mutation: High Inter-Patient Variability Disclosed by Immunophenotypic Unsupervised Analysis and Clustering

Porwit

Béné

2021

Hemato

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Plasmacytoid dendritic cells (PDC) constitute a small subset of normal bone marrow (BM) cells but have also been shown to be present, sometimes in large numbers, in several hematological malignancies such as acute myeloid leukemia with RUNX1 mutation, chronic myelomonocytic leukemia or, obviously, blastic plasmacytoid dendritic cell neoplasms. These cells have been reported to display somewhat variable immunophenotypic features in different conditions. However, little is known of their plasticity within individual patients. Using an unsupervised clustering tool (FlowSOM) to re-visit flow cytometry results of seven previously analyzed cases of hematological malignancies (6 acute myeloid leukemia and one chronic myelomonocytic leukemia) with a PDC contingent, we report here on the unexpectedly high variability of PDC subsets. Although five of the studied patients harbored a RUNX1 mutation, no consistent feature of PDCs could be disclosed as associated with this variant. Moreover, the one normal single-node small subset of PDC detected in the merged file of six normal BM could be retrieved in the remission BM samples of three successfully treated patients. This study highlights the capacity of unsupervised flow cytometry analysis to delineate cell subsets not detectable with classical supervised tools.

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Diagnosis of rare subtypes of acute myeloid leukaemia and related neoplasms

Cited by 7 publications

References 91 publications

A Case of Acute Myeloid Leukemia Mimicking Blastic Plasmacytoid Dendritic Cell Neoplasm: Utility of the Proposed Upcoming WHO-5 Diagnostic Criteria

A Case of Acute Myeloid Leukemia Mimicking Blastic Plasmacytoid Dendritic Cell Neoplasm: Utility of the Proposed Upcoming WHO-5 Diagnostic Criteria

RUNX1::RUNX1T1 Fusion in Pediatric Acute Myeloid Leukemia: A Description of Two Cases

The Plasmacytoid Dendritic Cell CD123+ Compartment in Acute Leukemia with or without RUNX1 Mutation: High Inter-Patient Variability Disclosed by Immunophenotypic Unsupervised Analysis and Clustering

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