RESUMEN
Acute liver failure (ALF) is a medical emergency requiring immediate evaluation for liver transplantation. We describe an unusual case of a patient who presented with ascites, jaundice, and encephalopathy and was found to have ALF due to natural killer (NK)-like T cell leukemia/lymphoma. The key immunophenotype was CD2+, CD3+, CD7+, CD56+. This diagnosis, which was based on findings in the peripheral blood and ascitic fluid, was confirmed with liver biopsy, and was a contraindication to liver transplantation. A review of the literature shows that hematologic malignancies are an uncommon cause of fulminant hepatic failure, and that NK-like T-cell leukemia/lymphoma is a relatively recently recognized entity which is characteristically CD3+ and CD56+. This case demonstrates that liver biopsy is essential in diagnosing unusual causes of acute liver failure, and that infiltration of the liver with NK-like T-cell lymphoma/leukemia can cause acute liver failure.
Asunto(s)
Leucemia-Linfoma de Células T del Adulto/complicaciones , Fallo Hepático Agudo/etiología , Trasplante de Hígado , Contraindicaciones , Resultado Fatal , Humanos , Inmunofenotipificación , Células Asesinas Naturales , Leucemia-Linfoma de Células T del Adulto/diagnóstico , Masculino , Persona de Mediana EdadRESUMEN
Non-Hodgkin lymphomas (NHLs) are often characterized by specific cytogenetic abnormalities. We evaluate the utility of routine cytogenetic studies in 261 "lymphoma work-ups". These include 4 non-hematolymphoid malignancies and 257 hematolymphoid processes submitted over 3 years, including even those initially appearing benign by morphology and immunophenotyping. About 64/257 yielded no results and 5/78 "lymphoid hyperplasia/lymphadenitis" were abnormal; 3 of these 5 appeared clonal [1, shortly followed by follicular lymphoma (FL)]. Increasing FL grades showed decreased t(14;18)/increased del 6q abnormalities. 1/4 Burkitt lymphomas (BL) (i.e., an atypical BL) showed t(8;14) and t(14;18) (i.e., a double-hit). 1/4 post-transplant lymphoproliferative disorders (PTLD) showed abnormalities, confirming clonality. One "extramedullary hematopoiesis" with a previous myelodysplastic syndrome and 1 erythroblastic sarcoma showed abnormalities, confirming myelodysplasias (MDS). A monocytic sarcoma revealed a t(9;11)(p22;q23). Routine cytogenetic studies aid in "lymphoma work-ups" by (1) detecting rare abnormalities in cases without apparent malignancy, indicating close follow-up, (2) detecting abnormalities in FL correlating with increasing grade, (3) detecting co-existent t(8;14) and t(14;18) in BL, indicating a worst prognosis, (4) establishing clonality in PTLD and (5) establishing diagnoses of MDS or chloroma in tissues. The findings by the conventional karyotyping studies in many of these cases added significant data to the diagnostic cases, beyond morphologic and immunophenotypic findings, and were not amenable to directed fluorescent-in-situ hybridization studies.
Asunto(s)
Análisis Citogenético , Linfoma no Hodgkin/diagnóstico , Aberraciones Cromosómicas , Humanos , Linfoma no Hodgkin/clasificación , Estudios RetrospectivosRESUMEN
Pallister-Killian syndrome is a chromosomal mosaic syndrome with a normal and an isochromosome 12p cell line, the latter rarely seen in peripheral blood. The isochromosome 12p cell line decreases with serial passages of fibroblasts in vitro and with age of patient in vivo. To evaluate cell death as a possible mechanism for loss of the abnormal cell line, amniocytes from a fetus with Pallister-Killian syndrome were identified as normal or aneuploid using a chromosome 12 alpha-satellite DNA probe by fluorescent in situ hybridization (FISH) and then subsequently stained with Annexin V, which stains the cytoplasm of cells that are dying. Although not conclusive, our preliminary results suggest that the abnormal cell line is going through apoptosis or necrosis at a higher rate than normal cells. Cell death may be a possible mechanism for decrease of the aneuploid cell line in patients with Pallister-Killian syndrome.