Acute basophilic leukemia with U2AF1 mutation

Carruale, Antonio; Muntone, Giuseppina; Rojas, Rodrigo; Bonfigli, Silvana; Virdis, Patrizia; Longu, Francesco; Valdes, Giovanni; Piras, Giovanna; Uras, Antonella; Palmas, Angelo; Caocci, Giovanni; Nasa, Giorgio La; Fozza, Claudio

doi:10.1016/j.bcmd.2019.02.002

Cited by 4 publications

(3 citation statements)

References 11 publications

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“…Granulocytes, including eosinophils, neutrophils, and basophils, have diverse and critical roles in disease propagation, including clearing pathogens and initiating inflammatory processes in cancer (Carruale et al, 2019), autoimmunity (Sharma and Bayry, 2015), and allergy (Li et al, 2016). The rarest of granulocytic cells, basophils, were first discovered in 1879 by Paul Erlich using conventional light microscopy (Chirumbolo, 2012), but their functions remained largely obscure until they were found to release histamine upon binding immunoglobulin E (IgE) via high-affinity IgE receptors (Ishizaka et al, 1972(Ishizaka et al, , 1973(Ishizaka et al, , 1979.…”

Section: Introductionmentioning

confidence: 99%

Mass Cytometry Phenotyping of Human Granulocytes Reveals Novel Basophil Functional Heterogeneity

et al. 2020

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Summary Basophils, the rarest granulocyte, play critical roles in parasite- and allergen-induced inflammation. We applied mass cytometry (CyTOF) to simultaneously asses 44 proteins to phenotype and functionally characterize neutrophils, eosinophils, and basophils from 19 healthy donors. There was minimal heterogeneity seen in eosinophils and neutrophils, but data-driven analyses revealed four unique subpopulations within phenotypically basophilic granulocytes (PBG; CD45 + HLA-DR − CD123 + ). Through CyTOF and fluorescence-activated cell sorting (FACS), we classified these four PBG subpopulations as (I) CD16 low FcεRI high CD244 high (88.5 ± 1.2%), (II) CD16 high FcεRI high CD244 high (9.1 ± 0.4%), (III) CD16 low FcεRI low CD244 low (2.3 ± 1.3), and (IV) CD16 high FcεRI low CD244 low (0.4 ± 0.1%). Prospective isolation confirmed basophilic-morphology of PBG I–III, but neutrophilic-morphology of PBG IV. Functional interrogation via IgE-crosslinking or IL-3 stimulation demonstrated that PBG I–II had significant increases in CD203c expression, whereas PBG III–IV remained unchanged compared with media-alone conditions. Thus, PBG III–IV could serve roles in non-IgE-mediated immunity. Our findings offer new perspectives in human basophil heterogeneity and the varying functional potential of these new subsets in health and disease.

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Section: Introductionmentioning

confidence: 99%

Mass Cytometry Phenotyping of Human Granulocytes Reveals Novel Basophil Functional Heterogeneity

et al. 2020

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“…To our knowledge, these two disease entities may have different genetic characteristics. There are many reports of cytogenetic abnormalities in ABL, including the following: t(X;6)(p11.2;q23.3) resulting in MYBGATA1 [ 5 ]; a normal karyotype with U2AF1 mutation [ 6 ]; t(16;21)(p11;q22) generating the FUS-ERG fusion gene [ 7 ]; t(6;12)(q13;p13.3) with loss of ETV6 [ 8 ]; and loss of TP53 in the setting of conversion from acute myeloblastic leukemia [ 9 ]. Interestingly, Pidala et al [ 10 ] reported secondary ABL from CML with the development of t(7;8)(q32;q13), while our case showed typical t(9;22) translocation and i(17)(q10).…”

Section: To the Editormentioning

confidence: 99%

Acute Basophilic Leukemia Arising from Chronic Myeloid Leukemia with Isolated Thrombocytosis

Zhang¹,

Kang²,

Chen³

et al. 2021

Tjh

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“…Acute basophilic leukaemia (ABL) is an uncommon form of acute myeloid leukemia (AML) accounting for 4-5% of all cases. 1 Consistent diagnostic criteria for ABL still remain the topic of discussion. For diagnosis, it is necessary to exclude other hematological malignancies associated with basophilia such as chronic myeloid leukemia (CML), acute promyelocytic leukemia (APL) with basophilic differentiation, and AML/ myelodysplastic syndrome (MDS).…”

Section: Introductionmentioning

confidence: 99%

A rare case of acute basophilic leukemia

Çelik,

Keklik,

Kontaş

et al. 2023

JCHOR

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Acute basophilic leukemia is an extremely rare form of acute myeloid leukemia and diagnosis is based on morphological, cytochemical and ultrastructural analyses of basophils and blastic cells. It is usually characterized by a very rapid clinical course, symptoms of hyperhistaminemia and resistance to therapy. A 73 year-old male presented with itching, thrombocytopenia and leukocytosis. There was no hepatosplenomegaly. In the flow cytometry evaluation of peripheral blood, CD123 positive myeloid blasts were detected at the rate of 60%. Also, CD13 and CD33 were positive, while CD34, CD117, HLA DR and myeloperoxidase (MPO) were negative. These findings were considered as consistent with ABL. Following, the diagnosis of ABL was confirmed by bone marrow evaluation including cytomorphological and immunohistochemical studies. On the other hand, cytogenetical analyses of bone marrow showed the presence of the Philadelphia chromosome.The patient received one cycle of a chemotherapy regimen including cytarabine and idarubicin with imatinib support, but he died on the 10th hospital day. Considering that ABL behaves in a very malignant fashion, and a more aggressive treatment approach is necessary for patients with this specific subtype of AML.

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Acute basophilic leukemia with U2AF1 mutation

Cited by 4 publications

References 11 publications

Mass Cytometry Phenotyping of Human Granulocytes Reveals Novel Basophil Functional Heterogeneity

Mass Cytometry Phenotyping of Human Granulocytes Reveals Novel Basophil Functional Heterogeneity

Acute Basophilic Leukemia Arising from Chronic Myeloid Leukemia with Isolated Thrombocytosis

A rare case of acute basophilic leukemia

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