Paediatric ambiguous lineage leukaemia with monocytic differentiation at diagnosis: case series and review of literature

Tandon, S. K.; Visser, Reginah; Astwood, Emma; Payne, Jeanette; Gray, Juliet; Wheeler, Lucy; Irving, Julie; Virgo, Paul

doi:10.1111/bjh.17852

Cited by 2 publications

(4 citation statements)

References 16 publications

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“…Fast identification of the same IG/TR rearrangements helped to confirm the diagnosis of MPAL, even though the immunophenotype of the second population was not definitively aberrant. Indeed, such an approach for establishing MPAL if the second population is presented by monocytes with a nearly “normal” immunophenotype would be of great clinical value 40 . Moreover, cell sorting with subsequent clonality assessment of monocytic cells that appeared during induction therapy, as described in the current work, allows for identification of a recently defined class of early switching ALL, 25 which typically does not require cardinal therapy changes, in contrast to lineage switching during progression or relapse development 29 …”

Section: Discussionmentioning

confidence: 95%

“…Indeed, such an approach for establishing MPAL if the second population is presented by monocytes with a nearly "normal" immunophenotype would be of great clinical value. 40 Moreover, cell sorting with subsequent clonality assessment of monocytic cells that appeared during induction therapy, as described in the current work, allows for identification of a recently defined class of early switching ALL, 25 which typically does not require cardinal therapy changes, in contrast to lineage switching during progression or relapse development. 29 There are, however, several limitations to the application of this technique.…”

Section: Discussionmentioning

confidence: 95%

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Flow cell sorting followed by PCR‐based clonality testing may assist in questionable diagnosis and monitoring of acute lymphoblastic leukemia

Semchenkova

Zhogov

Захарова

et al. 2023

Int J Lab Hematology

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Introduction Multicolor flow cytometry (MFC) has highly reliable and flexible algorithms for diagnosis and monitoring of acute lymphoblastic leukemia (ALL). However, MFC analysis can be affected by poor sample quality or novel therapeutic options (e.g., targeted therapies and immunotherapy). Therefore, an additional confirmation of MFC data may be needed. We propose a simple approach for validation of MFC findings in ALL by sorting questionable cells and analyzing immunoglobulin/T‐cell receptor (IG/TR) gene rearrangements via EuroClonality‐based multiplex PCR. Patients and Methods We obtained questionable MFC results for 38 biological samples from 37 patients. In total, 42 cell populations were isolated by flow cell sorting for downstream multiplex PCR. Most of the patients (n = 29) had B‐cell precursor ALL and were investigated for measurable residual disease (MRD); 79% of them received CD19‐directed therapy (blinatumomab or CAR‐T). Results We established the clonal nature of 40 cell populations (95.2%). By using this technique, we confirmed very low MRD levels (<0.01% MFC‐MRD). We also applied it to several ambiguous findings for diagnostic samples, including those with mixed‐phenotype acute leukemia, and the results obtained impacted the final diagnosis. Conclusion We have demonstrated possibilities of a combined approach (cell sorting and PCR‐based clonality assessment) to validate MFC findings in ALL. The technique is easy to implement in diagnostic and monitoring workflows, as it does not require isolation of a large number of cells and knowledge of individual clonal rearrangements. We believe it provides important information for further treatment.

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Section: Discussionmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 95%

Flow cell sorting followed by PCR‐based clonality testing may assist in questionable diagnosis and monitoring of acute lymphoblastic leukemia

Semchenkova

Zhogov

Захарова

et al. 2023

Int J Lab Hematology

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“…It is now clearly known that B/myeloid AL (with or without specific genetic aberrations) is the most common type of MPAL [ 4 , 18 ]. In most of these cases, an immature lymphoblastic population is accompanied by a more mature, predominantly monocytic population [ 9 , 15 ]. However, these monocytes typically do not show strong immunophenotypic aberrations.…”

Section: Discussionmentioning

confidence: 99%

“…In general, bilineal leukemias can be very problematic even for experienced pathologists [ 9 , 10 , 12 , 13 , 14 ], and one of the populations may exhibit an immunophenotype close to normal. For example, abnormal monoblasts sometimes resemble normal monocytes and cannot be distinguished from them only by immunophenotype because of the absence of specific immunophenotypic deviations [ 9 , 15 ]. In such a case, a small abnormal population may not be included in the final report, leading to misdiagnosis or missed diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Recognizing Minor Leukemic Populations with Monocytic Features in Mixed-Phenotype Acute Leukemia by Flow Cell Sorting Followed by Cytogenetic and Molecular Studies: Report of Five Exemplary Cases

Semchenkova

Zerkalenkova

Demina

et al. 2023

IJMS

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Mixed-phenotype acute leukemia (MPAL), a rare and heterogeneous category of acute leukemia, is characterized by cross-lineage antigen expression. Leukemic blasts in MPAL can be represented either by one population with multiple markers of different lineages or by several single-lineage populations. In some cases, a major blast population may coexist with a smaller population that has minor immunophenotypic abnormalities and may be missed even by an experienced pathologist. To avoid misdiagnosis, we suggest sorting doubtful populations and leukemic blasts and searching for similar genetic aberrations. Using this approach, we examined questionable monocytic populations in five patients with dominant leukemic populations of B-lymphoblastic origin. Cell populations were isolated either for fluorescence in situ hybridization or for clonality assessment by multiplex PCR or next-generation sequencing. In all cases, monocytic cells shared the same gene rearrangements with dominant leukemic populations, unequivocally confirming the same leukemic origin. This approach is able to identify implicit cases of MPAL and therefore leads to the necessary clinical management for patients.

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Paediatric ambiguous lineage leukaemia with monocytic differentiation at diagnosis: case series and review of literature

Cited by 2 publications

References 16 publications

Flow cell sorting followed by PCR‐based clonality testing may assist in questionable diagnosis and monitoring of acute lymphoblastic leukemia

Flow cell sorting followed by PCR‐based clonality testing may assist in questionable diagnosis and monitoring of acute lymphoblastic leukemia

Recognizing Minor Leukemic Populations with Monocytic Features in Mixed-Phenotype Acute Leukemia by Flow Cell Sorting Followed by Cytogenetic and Molecular Studies: Report of Five Exemplary Cases

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