RESUMO
The original description of patients with Russell-Silver syndrome included precocious puberty, the mechanism of which was unclear. We describe a child with a Russell-Silver syndrome-like phenotype who presented with precocious puberty that was associated with hyperplasia of the Sertoli cells. The patient was found to have an immature cryptorchid testicle; hyperplastic Sertoli cells were also aneuploid carrying trisomy 8. This chromosomal abnormality was present in Sertoli cells only and could not be detected in peripheral lymphocytes, tunica vaginalis, or other, normal, testicular tissue. Sertoli cells in culture showed excess aromatization providing an explanation for the rapid advancement of the patient's bone age. We conclude that in a patient with a Russell-Silver syndrome-like phenotype, Sertoli cell hyperplasia was associated with somatic trisomy 8, increased aromatization, and gonadotropin-independent precocious puberty.
Assuntos
Retardo do Crescimento Fetal/patologia , Puberdade Precoce/complicações , Células de Sertoli/patologia , Aromatase/metabolismo , Bandeamento Cromossômico , Feminino , Humanos , Hiperplasia , Imuno-Histoquímica , Lactente , Recém-Nascido , Cariotipagem , Imageamento por Ressonância Magnética , Masculino , Gravidez , ÁguaRESUMO
Presentamos los hallazgos cromosómicos de una mujer de cuatro años de edad con trombocitopenia. El cariotipo demostró un 1(7) q(10) como una posible deleción en 11q23 y un cuestionable rearreglo en 9p. Los estudios por FISH de ambas interfase del núcleo y metafase de la célula, usando la fase de reposo MLL y caracterización de la prueba instrumental en el gen MLL, el cual fue encriptado por análisis citogenético convencional. Específicamente, el patrón FISH fue consistente con una inserción de la región 5' del gen MLL dentro de un cromosoma 4 hacia la banda q21, mas estrechamente una variante 1(4;11) (q 21;g23). Este caso ejemplifica la importancia del FISH y su consiguiente caracterización de casos precursores B-cell all, sin algún significado pronóstico de anormalidad cromosómica.
We present the chromosome findings in a 4-year-old female with thrombocytopenia. The karyotype showed an i(7)(q10) as well as a possible deletion on 11q23 and a questionable rearrangement on 9p. FISH studies on both interphase nuclei and metaphase cells using the MLL break apart rearrangement probe were instrumental in the characterization of an MLL gene rearrangement , which was cryptic by conventional cytogenetic analysis. Specifically, the FISH pattern was consistent with an insertion of the 5' region of the MLL gene into one chromosome 4 at band q21, most likely a variant t(4;11)(q21;q23). This case exemplifies the importance of FISH in the further characterization of precursor B-cell ALL cases without any apparent prognostically significant chromosome abnormalities.
Assuntos
Humanos , Feminino , Pré-Escolar , Leucemia-Linfoma Linfoblástico de Células Precursoras , TrombocitopeniaRESUMO
We report the chromosomal findings in a 4-year-old female with precursor B-cell acute lymphoblastic leukemia (ALL). The diagnostic karyotype showed an isochromosome 7q, i(7)(q10), as well as questionable rearrangements on 9p and 11q. Fluorescence in situ hybridization (FISH) studies on both interphase and metaphase cells using the MLL "break-apart" and the centromeric chromosome 4 probes were instrumental in the characterization of an MLL gene rearrangement, which was cryptic by conventional cytogenetic analysis. Specifically, the FISH pattern was consistent with an insertion of the 5' region of the MLL gene into chromosome 4 at band q21, most likely a variant t(4;11)(q21;q23). This is the second case of FISH detection of an ins(4;11) in ALL. Our case exemplifies the importance of FISH in the further characterization of precursor B-cell ALL cases without any apparent prognostically significant chromosomal abnormalities.
Assuntos
Linfoma de Burkitt/genética , Cromossomos Humanos Par 11 , Cromossomos Humanos Par 4 , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Translocação Genética , Linfoma de Burkitt/patologia , Pré-Escolar , Bandeamento Cromossômico , Feminino , Histona-Lisina N-Metiltransferase , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Mutagênese Insercional , Proteína de Leucina Linfoide-Mieloide/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologiaRESUMO
We investigated the origin of a ring chromosome in a myxoid malignant fibrous histiocytoma (MFH) by microdissection and fluorescence in situ hybridization (FISH) analyses. Cytogenetically, only two ring chromosomes were observed; the smaller ring was seen more frequently. The latter was microdissected, and the material used for FISH. Hybridization of the microdissected labeled DNA to normal metaphase cells revealed that the signal localized only to 20q. Three signals were seen in the tumor cells using either the microdissected 20q probe or chromosome 20 centromeric probe, indicating the involvement of both the long arm and the centromere in the ring chromosome. The short arm of chromosome 20 did not appear to be involved in the formation of the ring chromosome.
Assuntos
Cromossomos Humanos Par 20 , Histiocitoma Fibroso Benigno/genética , Histiocitoma Fibroso Benigno/patologia , Cromossomos em Anel , Adulto , Biópsia , Centrômero/genética , Mapeamento Cromossômico , Feminino , Histiocitoma Fibroso Benigno/cirurgia , Humanos , Hibridização in Situ Fluorescente , CariotipagemRESUMO
We report a case of an intramuscular lipoma with the following karyotype: 46,XY,t(12;14) (q14-15;q24). To our knowledge, this is the third report of a t(12;14) as a sole abnormality in a lipoma.
