RESUMO
Background: Primary plasma cell leukemia (pPCL) is uncommon, aggressive and has a different biology than multiple myeloma (MM). Aim: To report the features of patients with pPCL. Material and Methods: Review of databases of the Hematology Department and the Hematology laboratory. Results: Of 178 patients with monoclonal gammopathies, five (2.8%) patients aged 33 to 64 years (three females) had a pPCL. The mean hemoglobin was 7.3 g/dL, the mean white blood cell count was 52,500/mm3, with 58% plasma cells, and the mean platelet count was 83,600/mm3. The mean bone marrow infiltration was 89%, LDH was 2,003 IU/L, serum calcium was 13 mg/dL, and creatinine 1.5 mg/dL. Two patients had bone lesions. Three were IgG, one IgA lambda and one lambda light chain. CD20 was positive in one, CD56 was negative in all and CD117 was negative in 3 cases. By conventional cytogenetic analysis, two had a complex karyotype. By Fluorescence in situ Hybridization, one was positive for TP53 and another for t (11; 14). One patient did not receive any treatment, three patients received VTD PACE and one CTD. None underwent transplant. Three patients are alive. The mean survival was 14 months. Conclusions: These patients with pPCL were younger and had a more aggressive clinical outcome than in multiple myeloma.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Leucemia Plasmocitária/genética , Leucemia Plasmocitária/epidemiologia , Paraproteinemias/genética , Paraproteinemias/patologia , Paraproteinemias/epidemiologia , Contagem de Células Sanguíneas , Leucemia Plasmocitária/patologia , Leucemia Plasmocitária/terapia , Análise de Sobrevida , Chile/epidemiologia , Cálcio/sangue , Estudos Retrospectivos , Resultado do Tratamento , Hibridização in Situ Fluorescente , Creatinina/sangue , Análise Citogenética , Citometria de Fluxo/métodosRESUMO
Background: Cytogenetic abnormalities observed in the bone marrow of patients with multiple myeloma (MM) are an important prognostic factor for risk stratification. Aim: To investigate karyotype characteristics and frequency of the high-risk cytogenetic abnormalities t(4;14), t(14;16) and del(17p) in Chilean patients with MM. Material and Methods: We studied 30 patients with MM by conventional cytogenetics (CC) and fluorescent in situ hybridization of plasma cells selected using cytoplasmic immunoglobulin staining (cIg-FISH). Results: Overall, the two techniques in combination allowed us to identify clonal genetic abnormalities in 47% of patients. The t(4;14) abnormality was observed in 19% of patients, del(17p) was observed in 10% of patients, and t(14;16) was not detected. Conclusions: Our results showed frequencies of high-risk abnormalities similar to those reported abroad. Cytogenetic studies should be performed routinely for all MM patients at the moment of diagnosis.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Aberrações Cromossômicas , Mieloma Múltiplo/genética , Valores de Referência , Chile , Fatores de Risco , Hibridização in Situ Fluorescente/métodos , Medição de Risco/métodos , Análise Citogenética/métodos , CariótipoRESUMO
Publicaciones recientes informan de una alta frecuencia de la Enfermedad de von Willebrand (E.v.W.) en pacientes con tiempo de sangría prolongado y recuento de plaquetas normal, destacando el uso de nuevos métodos de laboratorio que permiten el diagnóstico de los grados leves y moderados de la enfermedad. Se estudiaron 76 pacientes pediátricos con antecedentes hemorrágicos y al menos un tiempo de sangría de Ivy prolongado, sin ingestión previa de medicamentos. De ellos, 66 completaron el estudio, pudiendo ser clasificados en las siguientes afecciones: Enfermedad de von Willebrand, 51 pacientes, trastorno congénito de la función plaquetaria, 4, otros trastornos de la coagulación, 4 no se logró hacer un diagnóstico definitivo en 7 pacientes