RESUMEN
Schistosomiasis is a parasitic disease caused by Schistosoma species. Intestinal and hepatic schistosomiases are the most common forms of chronic disease. We describe a case of a 26-year old patient from Eritrea who was referred to our hospital with abdominal pain and diarrhea. The diagnosis of hepatosplenic schistosomiasis was made by liver biopsy and the patient was treated with praziquantel. Hepatic schistosomiasis is characterised by deposition of schistosomal eggs in the liver which results in a host cell immune response and leads to granuloma formation and neoangiogenesis. This is hallmarked by different grades of periportal fibrosis with portal hypertension leading to splenomegaly. Normal liver architecture is preserved and periportal fibrosis can be reversible if treated adequately and timely. With a recent native schistosomiasis cluster report from France and the expected influx to Europe of persons from regions endemic for schistosomiasis, increased awareness of this disease in healthcare practitioners is needed. We review the epidemiology, pathogenesis, clinical presentation and treatment of schistosomiasis.
Asunto(s)
Antihelmínticos/uso terapéutico , Parasitosis Hepáticas/diagnóstico , Parasitosis Hepáticas/tratamiento farmacológico , Praziquantel/uso terapéutico , Esquistosomiasis/diagnóstico , Esquistosomiasis/tratamiento farmacológico , Esplenomegalia/parasitología , Adulto , Diagnóstico Diferencial , Humanos , MasculinoRESUMEN
INTRODUCTION: Detection of mutations in patients with myeloid neoplasms (MNs) has shown great potential for diagnostic and prognostic purposes. Next-generation sequencing (NGS) is currently implemented for the diagnostic profiling of the four major MN subgroups. METHODS: First, we validated the targeted NGS approach using the TruSight Myeloid panel. Next, we screened 287 patients with a clinical suspicion of MN and 61 follow-up patients with documented MN. RESULTS: Validation of the NGS workflow resulted in maximal precision, accuracy, sensitivity, and specificity for gene variants with an allele frequency of at least 5% and a minimal read depth of 300. In our diagnostic screen, we identified at least one somatic mutation in 89% of patients with proven MN. Of the 155 newly diagnosed MN cases, 126 (81%) showed at least one mutation, confirming clonality. Moreover, the co-occurrence of mutated genes in the different MN subentities facilitates their classification and justifies the diagnostic use of a pan-myeloid panel. Furthermore, several of these mutations provide additional prognostic information independently of traditional prognostic scoring systems. CONCLUSION: Pan-myeloid targeted NGS fits elegantly in the routine diagnostic approach of MNs allowing for an improved diagnosis, subclassification, and prognosis.
Asunto(s)
Neoplasias Hematológicas , Secuenciación de Nucleótidos de Alto Rendimiento/instrumentación , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Mutación , Trastornos Mieloproliferativos , Análisis Mutacional de ADN/instrumentación , Análisis Mutacional de ADN/métodos , Femenino , Estudios de Seguimiento , Neoplasias Hematológicas/diagnóstico , Neoplasias Hematológicas/genética , Humanos , Masculino , Trastornos Mieloproliferativos/diagnóstico , Trastornos Mieloproliferativos/genéticaAsunto(s)
Leucemia Linfocítica Crónica de Células B/genética , Translocación Genética , Adulto , Anciano , Anciano de 80 o más Años , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Cromosomas Humanos Par 14 , Cromosomas Humanos Par 18 , Femenino , Humanos , Leucemia Linfocítica Crónica de Células B/diagnóstico , Leucemia Linfocítica Crónica de Células B/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Pronóstico , Resultado del TratamientoRESUMEN
Classical t(11;14)(q13;q32) involving IGH-CCND1 is typically associated with aggressive CD5-positive mantle cell lymphoma (MCL). Recently, we identified the IGK variant of this translocation, t(2;11)(p11;q13), in three patients with a leukemic small-cell B-non-Hodgkin lymphoma. In all cases, rearrangements of the IGK and CCND1 genes were demonstrated by fluorescence in situ hybridization. Moreover, we mapped the 11q13 breakpoint of this variant translocation in the 3' region of CCND1 which contrasts with the 5' breakpoints in a standard t(11;14)(q13;q32). Expression of cyclin D1 was shown in two cases analyzed either at diagnosis or during disease progression. All three patients were asymptomatic at presentation and no initial therapy was required. One patient died of a progressive disease 58 months from diagnosis, and two patients showed stable disease after 12 months of follow-up. In two analyzed cases, mutated IGVH genes were identified. Our findings indicate that variant t(2;11)(p11;q13) does not typify a classical MCL but possibly a more indolent leukemic lymphoma originating from an antigen experienced (mutated) B cell.
Asunto(s)
Cromosomas Humanos Par 11/genética , Cromosomas Humanos Par 2/genética , Ciclina D1/genética , Reordenamiento Génico de Cadena Pesada de Linfocito B/genética , Inmunoglobulinas/genética , Linfoma no Hodgkin/genética , Translocación Genética/genética , Adulto , ADN de Neoplasias/análisis , Progresión de la Enfermedad , Femenino , Variación Genética , Humanos , Cadenas Pesadas de Inmunoglobulina/genética , Región Variable de Inmunoglobulina/genética , Hibridación Fluorescente in Situ , Cariotipificación , Leucemia/genética , Leucemia/inmunología , Leucemia/patología , Leucemia Linfocítica Crónica de Células B/genética , Leucemia Linfocítica Crónica de Células B/inmunología , Leucemia Linfocítica Crónica de Células B/patología , Linfoma de Células del Manto/genética , Linfoma de Células del Manto/inmunología , Linfoma de Células del Manto/patología , Linfoma no Hodgkin/inmunología , Linfoma no Hodgkin/patología , Masculino , Persona de Mediana Edad , Mutación , Recurrencia Local de Neoplasia/genética , Recurrencia Local de Neoplasia/patologíaRESUMEN
We here report the clinical, cytogenetic, fluorescence in situ hybridization (FISH), and Southern blot data on 14 patients with a myeloid malignancy and structural aberration of chromosome band 11q23 associated with overrepresentation or amplification of the MLL gene. The number of copies of MLL varied from three (two cases) to a cluster consisting of multiple hybridization spots. Together with previous reports, available data indicate that amplification of 11q23/MLL is a recurrent genetic change in myeloid malignancy. It affects mainly elderly patients and is often associated with dysplastic bone marrow changes or with complex karyotypic aberrations, suggestive of genotoxic exposure. It is associated with a poor prognosis. In addition, FISH analysis of nine cases with additional 11q probes showed that the overrepresented chromosomal region is generally not restricted to MLL, and Southern blot analysis indicated that amplification does not involve a rearranged copy of this gene. The significance of MLL amplification and the mechanisms by which it could play a role in leukemogenesis and/or disease progression remain to be elucidated.
Asunto(s)
Cromosomas Humanos Par 11/genética , Proteínas de Unión al ADN/genética , Amplificación de Genes/genética , Leucemia Mieloide/genética , Leucemia Mieloide/patología , Proto-Oncogenes , Factores de Transcripción , Adulto , Anciano , Anciano de 80 o más Años , Southern Blotting , Femenino , Dosificación de Gen , N-Metiltransferasa de Histona-Lisina , Humanos , Inmunofenotipificación , Hibridación Fluorescente in Situ , Cariotipificación , Leucemia Mieloide/diagnóstico , Masculino , Persona de Mediana Edad , Proteína de la Leucemia Mieloide-Linfoide , Estudios RetrospectivosRESUMEN
We report a case of Sweet's syndrome in a patient in whom an acute myeloblastic leukemia was subsequently diagnosed. Approximately 10-20% of the reported cases of Sweet's syndrome occur in patients with a malignancy, the neoplastic condition most commonly reported being acute myelogenous leukemia. This case is of interest because of its unusual clinical presentation: the cutaneous lesions were accompanied by a massive swelling of the tongue. We suggest that this sudden macroglossia was caused by an infiltration of mature neutrophils, as seen in cutaneous lesions of Sweet's syndrome. There have been several reports recently of extracutaneous manifestations of Sweet's syndrome, and neutrophilic infiltrates have been found both in several internal organs and at mucosal locations.