KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia
Joint Authors
Lima, Margarida
Lau, Catarina
Teixeira, Maria dos Anjos
Orfao, Alberto
Garcia, José
Lopes, Marta
Casais, Cláudia
Mesquita, Vanessa
Seabra, Patrícia
Cabral, Renata
Rodrigues, João
Jara-Acevedo, Maria
Freitas, Inês
Coutinho, Jorge
Escribano, Luis
Vizcaíno, José Ramón
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-16, 16 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-02-18
Country of Publication
Egypt
No. of Pages
16
Main Subjects
Abstract EN
Introduction.
Mast cell (MC) leukemia (MCL) is extremely rare.
We present a case of MCL diagnosed concomitantly with acute myeloblastic leukemia (AML).
Case Report.
A 41-year-old woman presented with asthenia, anorexia, fever, epigastralgia, and diarrhea.
She had a maculopapular skin rash, hepatosplenomegaly, retroperitoneal adenopathies, pancytopenia, 6% blast cells (BC) and 20% MC in the peripheral blood, elevated lactate dehydrogenase, cholestasis, hypoalbuminemia, hypogammaglobulinemia, and increased serum tryptase (184 μg/L).
The bone marrow (BM) smears showed 24% myeloblasts, 17% promyelocytes, and 16% abnormal toluidine blue positive MC, and flow cytometry revealed 12% myeloid BC, 34% aberrant promyelocytes, a maturation blockage at the myeloblast/promyelocyte level, and 16% abnormal CD2−CD25+ MC.
The BM karyotype was normal, and the KIT D816V mutation was positive in BM cells.
The diagnosis of MCL associated with AML was assumed.
The patient received corticosteroids, disodium cromoglycate, cladribine, idarubicin and cytosine arabinoside, high-dose cytosine arabinoside, and hematopoietic stem cell transplantation (HSCT).
The outcome was favorable, with complete hematological remission two years after diagnosis and one year after HSCT.
Conclusions.
This case emphasizes the need of an exhaustive laboratory evaluation for the concomitant diagnosis of MCL and AML, and the therapeutic options.
American Psychological Association (APA)
Lopes, Marta& Teixeira, Maria dos Anjos& Casais, Cláudia& Mesquita, Vanessa& Seabra, Patrícia& Cabral, Renata…[et al.]. 2018. KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia. Case Reports in Hematology،Vol. 2018, no. 2018, pp.1-16.
https://search.emarefa.net/detail/BIM-1143813
Modern Language Association (MLA)
Lopes, Marta…[et al.]. KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia. Case Reports in Hematology No. 2018 (2018), pp.1-16.
https://search.emarefa.net/detail/BIM-1143813
American Medical Association (AMA)
Lopes, Marta& Teixeira, Maria dos Anjos& Casais, Cláudia& Mesquita, Vanessa& Seabra, Patrícia& Cabral, Renata…[et al.]. KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia. Case Reports in Hematology. 2018. Vol. 2018, no. 2018, pp.1-16.
https://search.emarefa.net/detail/BIM-1143813
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143813