Assuntos
Cromossomos Humanos/genética , Leucemia de Mastócitos , Mutação , Transtornos Mieloproliferativos , Proteínas de Neoplasias , Idoso , Humanos , Leucemia de Mastócitos/sangue , Leucemia de Mastócitos/genética , Leucemia de Mastócitos/patologia , Leucemia de Mastócitos/terapia , Masculino , Transtornos Mieloproliferativos/sangue , Transtornos Mieloproliferativos/genética , Transtornos Mieloproliferativos/patologia , Transtornos Mieloproliferativos/terapia , Proteínas de Neoplasias/sangue , Proteínas de Neoplasias/genéticaRESUMO
Mast cell leukemia is an extremely rare disease, which belongs to the systemic mastocytosis group (WHO 2016). We are reporting the case of a 79-year-old woman, without any hematological particular history consulting for hyperthermia, repeated malaise and subacute anemia. Her clinical examination was normal. Unusual cells were seen on blood and bone marrow smears. They represent more than 10% of blood nucleated cells end more than 20% of the bone marrow nucleated cells. Bone marrow immunophenotyping was performed to characterize these cells. It revealed a cell subset expressing the surface antigens CD117, CD2 and CD25. This immunophenotypic profile is the hallmark of malignant mast cells. Then mast cell leukemia diagnosis could have been made and KIT gene sequencing highlighted the N822Y mutation in exon 17. The patient was initially treated with midostaurin, a tyrosine kinase inhibitor. Lack of therapeutic response and absence of the KIT D816V mutation led to switch to imatinib, following the latest scientific recommendations.
Assuntos
Anemia/diagnóstico , Células Sanguíneas/patologia , Leucemia de Mastócitos/diagnóstico , Mastócitos/patologia , Mastocitose Sistêmica/diagnóstico , Idoso , Substituição de Aminoácidos , Anemia/sangue , Anemia/genética , Citodiagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Leucemia de Mastócitos/sangue , Leucemia de Mastócitos/genética , Mastocitose Sistêmica/sangue , Mastocitose Sistêmica/genética , Mutação de Sentido Incorreto , Proteínas Proto-Oncogênicas c-kit/genéticaAssuntos
Medula Óssea/patologia , Leucemia de Mastócitos/diagnóstico , Leucemia Mieloide/diagnóstico , Mastócitos/patologia , Mastocitose Sistêmica/diagnóstico , Adulto , Células Clonais/patologia , Diagnóstico Diferencial , Erros de Diagnóstico , Progressão da Doença , Evolução Fatal , Feminino , Humanos , Infecções/etiologia , Cariotipagem , Leucemia de Mastócitos/sangue , Leucemia de Mastócitos/genética , Leucemia de Mastócitos/patologia , Leucemia Mieloide/sangue , Leucemia Mieloide/complicações , Leucemia Mieloide/genética , Leucemia Mieloide/patologia , Masculino , Mastocitose Sistêmica/sangue , Mastocitose Sistêmica/complicações , Mastocitose Sistêmica/genética , Mastocitose Sistêmica/patologia , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/diagnóstico , Mielopoese , Células-Tronco Neoplásicas/patologia , Coloração e Rotulagem , Urticária/etiologiaRESUMO
Blood findings in 61 cases of generalized mastocytosis (GM) were evaluated. The cases were divided into two major variants: Systemic mastocytosis (SM; n = 34) with urticaria pigmentosa-like skin lesions, and malignant mastocytosis (MM; n = 27), without skin involvement. The following results were obtained: (1) Significant differences between MM and SM were found in the main haematological parameters (erythrocyte, platelet and leucocyte counts and haemoglobin level); normal values were found in 16 of the SM cases, but never in MM. (2) The main pathological findings were: in SM, anaemia (9/34) and leucocytosis (5/34); and in MM, leucocytosis (19/27), monocytosis (14/27), eosinophilia (12/27), bicytopenia (12/27, mostly anaemia with thrombocytopenia), basophilia (10/27) and isolated anaemia (7/27). (3) The major finding was a significant difference between MM and SM in the incidence of myeloproliferative disorders (MPD), myelodysplasia and mast cell leukaemia (MCL): these disorders occurred in 23 (92%) MM patients, but only in two (6%) SM patients (P less than 0.001). The four instances of MCL and two of myelodysplasia all occurred with MM. Of the 19 cases of MPD, six (SM, 1; MM, 5) were acute variants (acute myeloid and myelomonocytic leukaemias) and 13 (SM, 1; MM, 12) were chronic variants. No case of malignant lymphoma was noted. (4) The blood picture in 10 of 13 chronic MPD cases represented an atypical chronic myeloid leukaemia for which the preliminary descriptive term 'mastocytosis-associated MPD' is proposed. (5) A survey of 103 published cases (SM, 77; MM, 26) yielded similar findings, including a high incidence of MPD and MCL in MM. These findings add further weight to the argument for recognizing SM and MM as two separate entities.
Assuntos
Contagem de Eritrócitos , Contagem de Leucócitos , Mastocitose/sangue , Transtornos Mieloproliferativos/sangue , Contagem de Plaquetas , Adulto , Idoso , Feminino , Doenças Hematológicas/sangue , Doenças Hematológicas/complicações , Hemoglobinas/análise , Humanos , Leucemia de Mastócitos/sangue , Leucemia de Mastócitos/complicações , Masculino , Mastocitose/complicações , Pessoa de Meia-Idade , Transtornos Mieloproliferativos/complicaçõesAssuntos
Leucemia de Mastócitos/veterinária , Doenças dos Suínos/patologia , Porco Miniatura , Animais , DNA de Neoplasias/análise , Feminino , Citometria de Fluxo , Histocitoquímica , Leucemia de Mastócitos/sangue , Leucemia de Mastócitos/patologia , Fígado/patologia , Mastócitos/patologia , Suínos , Doenças dos Suínos/sangueRESUMO
Ten cases in which leukemic cells contained numerous cytoplasmic granules were examined by using a panel of cytochemical reactions. The diagnoses in the 10 cases were mast cell leukemia, chronic basophilic leukemia, and acute myeloid leukemia with basophilic differentiation in one case each, acute promyelocytic leukemia in two cases, acute megakaryoblastic leukemia in two cases, and blastic hairy cell leukemia in three cases. The cytochemical panel consisted of peroxidase, toluidine blue, chloroacetate esterase, aminocaproate esterase, tartrate-resistant acid phosphatase, and immunoalkaline phosphatase for platelet/megakaryocyte-specific antigen. The unusual cytologic features of leukemic cells in cases similar to our 10 cases have caused considerable diagnostic difficulties. In our 10 cases, however, the effective use of cytochemical studies helped to achieve accurate identification of the various types of leukemic cells. We conclude that the intelligent application of cytochemical techniques continues to be useful for the accurate cytodiagnosis of hematopoietic neoplasms.