KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia
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, hepatospl...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2018/3890361 |
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| author | Marta Lopes Maria dos Anjos Teixeira Cláudia Casais Vanessa Mesquita Patrícia Seabra Renata Cabral José Palla-García Catarina Lau João Rodrigues Maria Jara-Acevedo Inês Freitas Jose Ramón Vizcaíno Jorge Coutinho Luis Escribano Alberto Orfao Margarida Lima |
| author_facet | Marta Lopes Maria dos Anjos Teixeira Cláudia Casais Vanessa Mesquita Patrícia Seabra Renata Cabral José Palla-García Catarina Lau João Rodrigues Maria Jara-Acevedo Inês Freitas Jose Ramón Vizcaíno Jorge Coutinho Luis Escribano Alberto Orfao Margarida Lima |
| author_sort | Marta Lopes |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-5a2f510b8b2e42de8f80aa617deb848f |
| institution | Kabale University |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-5a2f510b8b2e42de8f80aa617deb848f2025-02-03T01:23:24ZengWileyCase Reports in Hematology2090-65602090-65792018-01-01201810.1155/2018/38903613890361KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid LeukemiaMarta Lopes0Maria dos Anjos Teixeira1Cláudia Casais2Vanessa Mesquita3Patrícia Seabra4Renata Cabral5José Palla-García6Catarina Lau7João Rodrigues8Maria Jara-Acevedo9Inês Freitas10Jose Ramón Vizcaíno11Jorge Coutinho12Luis Escribano13Alberto Orfao14Margarida Lima15Serviço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Porto, PortugalServiço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Porto, PortugalServiço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Porto, PortugalServiço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Porto, PortugalServiço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Porto, PortugalServiço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Porto, PortugalServiço de Anatomia Patológica, Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Porto, PortugalServiço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Porto, PortugalServiço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Porto, PortugalSequencing Service (NUCLEUS), University of Salamanca, Salamanca, SpainUnidade Multidisciplinar de Investigação Biomédicas, Instituto de Ciências Biomédicas Abel Salazar da Universidade do Porto (UMIB/ICBAS/UP), Porto, PortugalServiço de Anatomia Patológica, Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Porto, PortugalServiço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Porto, PortugalInstitute of Biomedical Research of Salamanca (IBSAL), Salamanca, SpainInstitute of Biomedical Research of Salamanca (IBSAL), Salamanca, SpainServiço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Porto, PortugalIntroduction. 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.http://dx.doi.org/10.1155/2018/3890361 |
| spellingShingle | Marta Lopes Maria dos Anjos Teixeira Cláudia Casais Vanessa Mesquita Patrícia Seabra Renata Cabral José Palla-García Catarina Lau João Rodrigues Maria Jara-Acevedo Inês Freitas Jose Ramón Vizcaíno Jorge Coutinho Luis Escribano Alberto Orfao Margarida Lima KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia Case Reports in Hematology |
| title | KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia |
| title_full | KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia |
| title_fullStr | KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia |
| title_full_unstemmed | KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia |
| title_short | KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia |
| title_sort | kit d816v positive acute mast cell leukemia associated with normal karyotype acute myeloid leukemia |
| url | http://dx.doi.org/10.1155/2018/3890361 |
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