TY - JOUR
T1 - NPM1 mutated, BCR-ABL1 positive myeloid neoplasms
T2 - Review of the literature
AU - Catalano, Gianfranco
AU - Niscola, Pasquale
AU - Banella, Cristina
AU - Diverio, Daniela
AU - Trawinska, Malgorzata Monika
AU - Fratoni, Stefano
AU - Iazzoni, Rita
AU - De Fabritiis, Paolo
AU - Abruzzese, Elisabetta
AU - Noguera, Nelida Ines
N1 - Publisher Copyright:
© 2020 Universita Cattolica del Sacro Cuore. All rights reserved.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/1/1
Y1 - 2020/1/1
N2 - Breakpoint cluster region - Abelson (BCR-ABL1) chimeric protein and mutated Nucleophosmin (NPM1) are often present in hematological cancers, but they rarely coexist in the same disease. Both anomalies are considered founder mutations that inhibit differentiation and apoptosis, but BCR-ABL1 could act as a secondary mutation conferring a proliferative advantage to a pre-neoplastic clone. The 2016 World Health Organization (WHO) classification lists the provisional acute myeloid leukemia (AML) with BCR-ABL1, which must be diagnosed differentially from the rare blast phase (BP) onset of chronic myeloid leukemia (CML), mainly because of the different therapeutic approach in the use of tyrosine kinase inhibitors (TKI). Here we review the BCR/ABL1 plus NPMc+ published cases since 1975 and describe a case from our institution in order to discuss the clinical and molecular features of this rare combination, and report the latest acquisition about an occurrence that could pertain either to the rare AML BCR-ABL1 positive or the even rarer CML-BP with mutated NPM1 at the onset. Differential diagnosis is based on careful analysis of genotypic and phenotypic features and anamnestic, clinical evolution, and background data. Therapeutic decisions must consider the broader clinical aspects, the comparatively mild effects of TKI therapy versus the great benefit that might bring to most of the patients, as may be incidentally demonstrated by our case history.
AB - Breakpoint cluster region - Abelson (BCR-ABL1) chimeric protein and mutated Nucleophosmin (NPM1) are often present in hematological cancers, but they rarely coexist in the same disease. Both anomalies are considered founder mutations that inhibit differentiation and apoptosis, but BCR-ABL1 could act as a secondary mutation conferring a proliferative advantage to a pre-neoplastic clone. The 2016 World Health Organization (WHO) classification lists the provisional acute myeloid leukemia (AML) with BCR-ABL1, which must be diagnosed differentially from the rare blast phase (BP) onset of chronic myeloid leukemia (CML), mainly because of the different therapeutic approach in the use of tyrosine kinase inhibitors (TKI). Here we review the BCR/ABL1 plus NPMc+ published cases since 1975 and describe a case from our institution in order to discuss the clinical and molecular features of this rare combination, and report the latest acquisition about an occurrence that could pertain either to the rare AML BCR-ABL1 positive or the even rarer CML-BP with mutated NPM1 at the onset. Differential diagnosis is based on careful analysis of genotypic and phenotypic features and anamnestic, clinical evolution, and background data. Therapeutic decisions must consider the broader clinical aspects, the comparatively mild effects of TKI therapy versus the great benefit that might bring to most of the patients, as may be incidentally demonstrated by our case history.
KW - AML with BCR-ABL1
KW - CML-BP
KW - NPM1
KW - TKI therapy
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U2 - 10.4084/MJHID.2020.083
DO - 10.4084/MJHID.2020.083
M3 - Review article
AN - SCOPUS:85099508805
VL - 12
JO - Mediterranean Journal of Hematology and Infectious Diseases
JF - Mediterranean Journal of Hematology and Infectious Diseases
SN - 2035-3006
IS - 1
M1 - e2020083
ER -