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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

Estelle Balducci 1 Marie Loosveld 2 Ilhem Rahal 3 John Boudjarane 4 Emilie Alazard Chantal Missirian 5, 4 Marina Lafage-Pochitaloff 1 Gerard Michel 6 Helene Zattara 7
1 APHM - Assistance Publique - Hôpitaux de Marseille
2 CIML - Centre d'Immunologie de Marseille - Luminy
3 AMU MED - Aix-Marseille Université - Faculté de médecine
4 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
5 Département de génétique médicale [Hôpital de la Timone - APHM]
6 FEMTO-ST - Franche-Comté Électronique Mécanique, Thermique et Optique - Sciences et Technologies (UMR 6174)
7 Département de Génétique
Abstract : Discrimination between lymphoid blast crisis of chronic myeloid leukemia (CML) and de novo BCR-ABL1 positive acute lymphoblastic leukemia (ALL) represents a diagnostic challenge because this distinction has a major incidence on the management of patients. Here, we report an uncommon pediatric case of ALL with cryptic ins(22;9)(q11;q34q34) and p190-type BCR-ABL1 transcript. We performed interphase fluorescence in situ hybridization (FISH) for BCR-ABL1 rearrangement on blood neutrophils, which was positive consistent with the diagnosis of lymphoid blast crisis of CML. This case illustrates the major interest of interphase FISH for BCR-ABL1 rearrangement on blood neutrophils as a decisive method to discriminate a lymphoid blast crisis of CML from a de novo BCR-ABL1 positive ALL.
Keywords : acute lymphoblastic leukemia BCR-ABL1 chronic myeloid leukemia fluorescence in situ hybridization lymphoid blast crisis neutrophils
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Journal articles
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https://hal-amu.archives-ouvertes.fr/hal-02000331
Contributor : Valérie Gall <>
Submitted on : Wednesday, January 30, 2019 - 3:11:40 PM
Last modification on : Thursday, November 12, 2020 - 9:42:15 AM

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  • HAL Id : hal-02000331, version 1

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UNIV-AMU | CNRS | UNIV-FCOMTE | UNIV-BM | UNIV-BM-THESE | FEMTO-ST | MMG

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Estelle Balducci, Marie Loosveld, Ilhem Rahal, John Boudjarane, Emilie Alazard, et al.. 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. Hematological Oncology, Wiley, 2018, 36 (1), pp.344-348. ⟨hal-02000331⟩

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