Interphase FISH for <i>BCR‐ABL1</i> rearrangement on neutrophils: A decisive tool to discriminate a lymphoid blast crisis of chronic myeloid leukemia from a de novo <i>BCR‐ABL1</i> positive acute lymphoblastic leukemia

Balducci, Estelle; Loosveld, Marie; Rahal, Ilhem; Boudjarane, John; Alazard, Emilie; Missirian, Chantal; Lafage‐Pochitaloff, Marina; Gautier, Michel; Zattara, Hélène

doi:10.1002/hon.2416

Cited by 8 publications

(5 citation statements)

References 14 publications

(23 reference statements)

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“…In patients with Ph+ lymphoid blasts, the detection of the BCR-ABL1 rearrangement in granulocytes by the interphase-FISH technique was recently reported as a helpful decisive tool to prove the myeloid origin of the malignant clone and could be used prospectively. 21 The proportion of children (35%) in the present cohort with extramedullary disease seems to be higher than in the adult population. 16,22 This may in part be explained by the higher frequency of lymphoid blast crisis in the present cohort with a propensity of central nervous system disease.…”

Section: Discussionmentioning

confidence: 61%

Favourable outcome of de novo advanced phases of childhood chronic myeloid leukaemia

Millot¹,

Maledon²,

Guilhot³

et al. 2019

European Journal of Cancer

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Section: Discussionmentioning

confidence: 61%

Favourable outcome of de novo advanced phases of childhood chronic myeloid leukaemia

Millot¹,

Maledon²,

Guilhot³

et al. 2019

European Journal of Cancer

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“…The chromosomal changes that define a transformation to CML-AP include a second Philadelphia chromosome, isochromosome 17q, trisomy 8, trisomy 19, abnormalities of 3q 26.2, or a complex karyotype [ 16 ]. Some studies have shown that B-ALL with BCR-ABL1 is associated with a greater number of additional chromosomal changes when compared with CML in BLP [ 17 ]. Additionally, gains in chromosome 9 are associated with B-ALL with BCR-ABL1, whereas deletions in chromosome 9p are more commonly seen in CML in BLP.…”

Section: Discussionmentioning

confidence: 99%

Unusual B-Lymphoid Blastic Crisis as Initial Presentation of Chronic Myeloid Leukemia Imposes Diagnostic Challenges

Momen

Baysal

Sait

et al. 2022

Case Reports in Hematology

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Chronic myeloid leukemia (CML) is a clonal hematopoietic stem cell disorder, characterized by reciprocal translocation t(9,22) (q34; q11), leading to increased myeloid proliferation. Most cases are diagnosed in the chronic phase (CP). However, a minority of cases can be present in the blastic phase (BP). In most patients with CML-BP, the blasts have a myeloid phenotype, however, in 20–30% of cases, the blasts have a lymphoid phenotype, mostly a B-cell phenotype. It is challenging to differentiate CML B-lymphoblastic phase (CML-BLP) from Ph + primary B-acute lymphoblastic leukemia (B-ALL) especially when the CML-BLP is the initial presentation of the disease, which is uncommon. We report here an unusual case of CML-BLP as an initial presentation of the disease without typical CML morphological findings. This case demonstrates diagnostic challenges and emphasizes the importance of an integrated approach using morphology, multiparametric flow cytometry, cytogenetic studies, and molecular studies to render an accurate diagnosis.

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“…Polymerase chain reaction (PCR) analysis of sorted cells does not yield reliable results because of the adverse balance between exponential amplification in PCR and the purity of the cell populations sorted from clinical samples. In principle, interphase FISH on neutrophils might expose the BCR::ABL1 rearrangement on cells of myeloid origin after a major blast reduction has occurred-for example, after two weeks of ALL-based induction treatment [32,33]. The limitations of that method are a lack of universal availability of the test or the achievement of a remission that is already too deep to detect the BCR::ABL1 fusion by FISH.…”

Section: Recommendations Diagnosis Of Cml-bp and Patients At Risk For...mentioning

confidence: 99%

Management of children and adolescents with chronic myeloid leukemia in blast phase: International pediatric CML expert panel recommendations

et al. 2023

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Treatment of chronic myeloid leukemia has improved significantly with the introduction of tyrosine kinase inhibitors (TKIs), and treatment guidelines based on numerous clinical trials are available for chronic phase disease. However for CML in the blast phase (CML-BP), prognosis remains poor and treatment options are much more limited. The spectrum of treatment strategies for children and adolescents with CML-BP has largely evolved empirically and includes treatment principles derived from adult CML-BP and pediatric acute leukemia. Given this heterogeneity of treatment approaches, we formed an international panel of pediatric CML experts to develop recommendations for consistent therapy in children and adolescents with this high-risk disease based on the current literature and national standards. Recommendations include detailed information on initial diagnosis and treatment monitoring, differentiation from Philadelphia-positive acute leukemia, subtype-specific selection of induction therapy, and combination with tyrosine kinase inhibitors. Given that allogeneic hematopoietic stem cell transplantation currently remains the primary curative intervention for CML-BP, we also provide recommendations for the timing of transplantation, donor and graft selection, selection of a conditioning regimen and prophylaxis for graft-versus-host disease, post-transplant TKI therapy, and management of molecular relapse. Management according to the treatment recommendations presented here is intended to provide the basis for the design of future prospective clinical trials to improve outcomes for this challenging disease.

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Interphase FISH for BCR‐ABL1 rearrangement on neutrophils: A decisive tool to discriminate a lymphoid blast crisis of chronic myeloid leukemia from a de novo BCR‐ABL1 positive acute lymphoblastic leukemia

Cited by 8 publications

References 14 publications

Favourable outcome of de novo advanced phases of childhood chronic myeloid leukaemia

Favourable outcome of de novo advanced phases of childhood chronic myeloid leukaemia

Unusual B-Lymphoid Blastic Crisis as Initial Presentation of Chronic Myeloid Leukemia Imposes Diagnostic Challenges

Management of children and adolescents with chronic myeloid leukemia in blast phase: International pediatric CML expert panel recommendations

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