RESUMEN
BACKGROUND: Janus kinase-2 (JAK2) is mutated in a high proportion of patients with polycythemia vera and in a smaller number with essential thrombocythemia and primary myelofibrosis. Mutated JAK2 is an important diagnostic marker for myeloproliferative neoplasm (MPN) and may also play a major role in the pathogenesis of MPN. OBJECTIVES: To evaluate the prevalence of mutated JAK2 (JAK2-V617F) among patients with major intraabdominal vein thrombosis who had normal blood counts at diagnosis of the initial event. METHODS: The medical records of patients who presented with a major intraabdominal venous thrombosis and normal peripheral blood counts were obtained. JAK2-V617F mutation status was determined by real-time polymerase chain reaction. RESULTS: Twenty-two patients were available for this analysis and 9 (41%) were found to have JAK2-V617F. Patients with positive JAK2-V617F were younger and had more frequent clinical splenomegaly than those with wild-type JAK2. CONCLUSIONS: A high proportion of patients presenting with "idiopathic" major intraabdominal vein thrombosis and normal blood counts carry JAK2-V617F. We recommend searching for the mutation in this clinical setting to detect patients with occult MPN.
Asunto(s)
Janus Quinasa 2/genética , Trastornos Mieloproliferativos/diagnóstico , Esplenomegalia/epidemiología , Trombosis de la Vena/patología , Adulto , Factores de Edad , Recuento de Células Sanguíneas , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación , Trastornos Mieloproliferativos/genética , Trastornos Mieloproliferativos/patología , Prevalencia , Reacción en Cadena en Tiempo Real de la Polimerasa , Esplenomegalia/etiología , Esplenomegalia/patologíaAsunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Cromosomas Humanos Par 11/genética , Leucemia Linfocítica Crónica de Células B/tratamiento farmacológico , Leucemia Mieloide Aguda/etiología , Leucemia Mieloide Aguda/genética , Proteína de la Leucemia Mieloide-Linfoide/genética , Neoplasias Primarias Secundarias/etiología , Neoplasias Primarias Secundarias/genética , Anticuerpos Monoclonales de Origen Murino/administración & dosificación , Anticuerpos Monoclonales de Origen Murino/efectos adversos , Secuencia de Bases , Cromosomas Humanos Par 9/genética , Ciclofosfamida/administración & dosificación , Ciclofosfamida/efectos adversos , Sondas de ADN/genética , Reordenamiento Génico , N-Metiltransferasa de Histona-Lisina , Humanos , Hibridación Fluorescente in Situ , Masculino , Persona de Mediana Edad , Rituximab , Translocación Genética , Vidarabina/administración & dosificación , Vidarabina/efectos adversos , Vidarabina/análogos & derivadosAsunto(s)
Leucemia Linfocítica Crónica de Células B/terapia , Linfocitosis/diagnóstico , Trasplante de Células Madre de Sangre Periférica , Donantes de Tejidos , Anciano , Femenino , Histocompatibilidad , Prueba de Histocompatibilidad , Humanos , Masculino , Persona de Mediana Edad , Hermanos , Resultado del TratamientoRESUMEN
Chimerism analysis after allogeneic stem cell transplantation (allo-SCT) is an important diagnostic tool for the documentation of engraftment, early detection of graft failure, and recurrence of the disease. Current assays rely on the genetic polymorphism between the donor and the recipient, and allow semiquantitative or quantitative analysis of chimerism. The most common method in use is based on the amplification of the short tandem repeats (STR). This method, with 1% to 5 sensitivity, is useful for the documentation of engraftment, but is insufficient for the detection of minimal residual disease or early relapse, when medical intervention is urgently needed. Recently, single-nucleotide polymorphism (SNP) has been suggested as an alternative, more accurate system to monitor chimerism. The purpose of our study was to develop an easy, economical, and sensitive method for the detection of chimerism following allo-SCT using the SNP technology. Our approach is based on SNP patient-specific quantitative real-time polymerase chain reaction (PCR) using nonlabeled primers. Our results show that this allele-specific SNP real-time PCR approach is sensitive, relatively cheap, and offers a fast and reliable assay for the monitoring of hematopoietic engraftment and for the detection of minimal residual disease in patients after allo-SCT.