RESUMEN
This case report documents the first karyotypic, fluorescence in situ hybridization, and genetic analysis of an angiomatoid fibrous histiocytoma that arose and recurred in the arm of a 5.5-year-old girl. Complex rearrangements between chromosomes 2, 12, 16, and 17 were noted, as well as deletion in the long arm of chromosome 11. Flow cytometry revealed a normal cell population. The t(12;16) site was further investigated using reverse transcriptase-polymerase chain reaction. We found that the FUS (also known as TLS) gene from 16p11 combined with the ATF-1 gene from 12q13 to generate a chimeric FUS/ATF-1. The FUS gene is rearranged in the t(12;16)(q13;p11) that characterizes myxoid liposarcoma and in acute myeloid leukemia with t(16;21)(p11;q22), while the ATF-1 gene is rearranged in the t(12;22)(q13;q12) found recurrently in clear cell sarcomas (malignant melanoma of soft parts). Thus, the FUS/ATF-1 gene in angiomatoid fibrous histiocytoma is predicted to code for a protein that is very similar to the chimeric EWS/ATF-1 found in clear cell sarcoma.
Asunto(s)
Fusión Artificial Génica , Cromosomas Humanos Par 12 , Cromosomas Humanos Par 16 , Proteínas de Unión al ADN , Hemangioma/genética , Histiocitoma Fibroso Benigno/genética , Ribonucleoproteínas/genética , Neoplasias de los Tejidos Blandos/genética , Factores de Transcripción/genética , Translocación Genética , Factor de Transcripción Activador 1 , Secuencia de Aminoácidos , Secuencia de Bases , Niño , ADN Complementario , Femenino , Ribonucleoproteínas Nucleares Heterogéneas , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Datos de Secuencia Molecular , Proteína EWS de Unión a ARN , Proteína FUS de Unión a ARNRESUMEN
Desmoplastic small round cell tumour (DSRCT) is an extremely aggressive neoplasm belonging to the family of "small round blue cell tumours", which includes primitive neuroectodermal tumour (PNET), Wilms' tumour and Ewing's sarcoma. DSRCT is considered to be a neoplasm derived from a primitive cell. It is immunohistochemically reactive with epithelial, neuronal and mesenchymal cell markers, demonstrating divergent differentiation along three cell lines. Originally thought to arise from serosal surfaces, the tumour has recently been reported in the central nervous system and ovary. The tumour in this case is a neoplasm that meets the histological, immunohistochemical, cytological and cytogenetic criteria of DSRCT; it is not associated with serosal membranes, and it has supraclavicular and axillary lymph node deposits and multiple pulmonary and brain metastases. Tumour cells from our case show cytogenetic similarities with Ewing's sarcoma and PNET. Electron microscopic findings suggest similarities between DSRCT and Wilms' tumour. Cloning and sequencing of PCR products showed in-frame fusion of EWS exon 7 to WT1 exon 8.
Asunto(s)
Neoplasias Pulmonares/secundario , Neoplasias Primarias Desconocidas/patología , Tumores Neuroectodérmicos Periféricos Primitivos , Adulto , Biomarcadores de Tumor/metabolismo , Cilios/ultraestructura , Diagnóstico Diferencial , Humanos , Inmunohistoquímica , Cariotipificación , Metástasis Linfática , Masculino , Neoplasias Primarias Desconocidas/genética , Neoplasias Primarias Desconocidas/metabolismo , Tumores Neuroectodérmicos Periféricos Primitivos/genética , Tumores Neuroectodérmicos Periféricos Primitivos/metabolismo , Tumores Neuroectodérmicos Periféricos Primitivos/patología , Reacción en Cadena de la Polimerasa , Sarcoma de Ewing/genética , Sarcoma de Ewing/metabolismo , Sarcoma de Ewing/patologíaRESUMEN
A 73-year-old woman developed a rapidly fatal disease that fit the clinical criteria for acute myelofibrosis. Over a 9 month period she progressed from normal peripheral blood counts to severe pancytopenia and finally a terminal phase with monocytosis and circulating myeloblasts. Morphologic examination of her bone marrow at presentation showed trilineage dysplasia, hypercellularity, and diffuse fibrosis with foci of immature precursors. Cytogenetic, analysis showed the karyotype 45-46, XX,del(5)(q33),+11,add(17)(q25),-18,-20,+22. The morphologic and cytogenetic findings in this case support a relationship between acute myelofibrosis and myelodysplastic syndromes. Acute myelofibrosis with complex chromosomal aberrations may represent one pathway of evolution in myelodysplasia that is associated with a particularly poor prognosis.
Asunto(s)
Aberraciones Cromosómicas , Mielofibrosis Primaria/genética , Enfermedad Aguda , Anciano , Médula Ósea/patología , Resultado Fatal , Femenino , Humanos , Cariotipificación , Mielofibrosis Primaria/patología , PronósticoRESUMEN
Deletion of a portion of the long arm of chromosome 9, as the sole abnormality, has previously been reported in detail in 14 cases of acute myeloid leukemia (AML). We report on the first case of AML-M2 arising from granulocytic sarcoma with this chromosome abnormality as the sole karyotypic abnormality.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 9 , Leucemia Mieloide Aguda/genética , Leucemia Mieloide/genética , Humanos , Cariotipificación , Masculino , Persona de Mediana EdadRESUMEN
We describe a 37-week gestation female infant who was born with a terminal 2q deletion. Both of her parents had normal chromosomes. This infant had multiple anomalies, including hypertelorism, short palpebral fissures, microphthalmia, cleft lip/cleft palate, and abnormal ears. Autopsy documented Dandy-Walker malformation with severe hydrocephalus, aortopulmonary window, secundum atrial septal defect, duodenal atresia, incomplete rotation of the bowel, gonadal dysgenesis, uterus didelphys, and musculoskeletal defects. Compared with the other 6 children with 2q terminal deletion documented in the literature, this patient is the most severely affected. This patient is also the only one documented to have died and undergone autopsy examination. The findings in this case provide more data for the eventual description of a "terminal 2q deletion syndrome" and suggest that some abnormalities, such as gonadal dysgenesis, may be present in living children with this chromosome abnormality.
Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos Par 2 , Anomalías Múltiples/patología , Defecto del Tabique Aortopulmonar/genética , Bandeo Cromosómico , Síndrome de Dandy-Walker/genética , Obstrucción Duodenal/congénito , Obstrucción Duodenal/genética , Femenino , Disgenesia Gonadal/genética , Humanos , Recién Nacido , Atresia Intestinal/genéticaRESUMEN
To educate a geographically and professionally diverse group of health care providers about teratology in an economic and efficient manner, we developed a locally written and distributed teratology newsletter. Response to the newsletter, from readers as well as from our staff and funding agencies, suggests that such a newsletter can be a valuable tool in educating medical communities about teratology.
Asunto(s)
Anomalías Inducidas por Medicamentos , Educación Médica Continua , Publicaciones Periódicas como Asunto , Teratógenos , HumanosRESUMEN
We report a 15-month-old boy with acute myelomonocytic leukemia [French-American-British classification M4 (FAB-M4)] whose leukemic cells demonstrated a translocation 46,XY, t(9;11)(p24;q12) that has not been described previously.
Asunto(s)
Cromosomas Humanos 6-12 y X , Leucemia Mieloide Aguda/genética , Translocación Genética , Humanos , Lactante , MasculinoAsunto(s)
Linfocitos/efectos de los fármacos , Pruebas de Mutagenicidad/métodos , Adulto , Anciano , Núcleo Celular/efectos de los fármacos , Células Cultivadas , Femenino , Fibroblastos/efectos de los fármacos , Humanos , Técnicas In Vitro , Recién Nacido , Masculino , Persona de Mediana Edad , Mutágenos/toxicidadRESUMEN
A person with acute lymphocytic leukemia who developed Hodgkin disease is described. His family had an excessive number of members with cancer. This paper describes various laboratory investigations, which were done in an attempt to elucidate certain host factors that might have been responsible for the increased incidence of cancer in this family.
Asunto(s)
Enfermedad de Hodgkin/genética , Leucemia Linfoide/genética , Neoplasias Primarias Múltiples/genética , Adolescente , Antígenos HLA/análisis , Enfermedad de Hodgkin/inmunología , Humanos , Inmunoglobulinas/análisis , Cariotipificación , Leucemia Linfoide/inmunología , Masculino , Neoplasias Primarias Múltiples/inmunología , LinajeRESUMEN
In females heterozygous for the Lesch-Nyhan (LN) mutation, there is mosaicism of peripheral blood lymphocytes (PBLs) with regard to sensitivity to 6-thioguanine (TG) inhibition of tritiated thymidine ([3H]Tdr) incorporation following phytohemagglutinin (PHA) stimulation. That there are two populations of PBLs, normal and mutant (LN-like), has been demonstrated by an autoradiographic enumerative assay. A single three-generation family containing six potentially heterozygous females was studied. Five of the six were mosaics with frequencies of TG-resistant (TGr) PBLs rangling from 1.4 x 10(-3) to 4.2 x 10(-3) when tested at 2 x 10(-4) M TG. The median frequency of TGr PBLs in 63 healthy non-LN individuals between the ages of 11 and 75 years was found to be 1.1 x 10(-4) (mean 1.3 x 10(-4)) (10th and 90th percentiles--6.1 x 10(-5) and 2.1 x 10(-4)) and was not age related. The sixth potentially heterozygous female in the current family had a TGr PBL frequency of 1.9 x 10(-4). In the five females with elevated TGr PBL frequencies, TGr skin fibroblasts with frequencies ranging from 26% to 100% of the sample tested were found; in the female with the normal TGr PBL frequency, no TGr skin fibroblasts were found. The former group was considered to be LN heterozygous. Four of the five had been previously diagnosed as such. The latter individual is considered to be genotypically normal. Females who are heterozygotes for the LN mutation have two populations of PBLs.