RESUMO
Secondary chondrosarcoma is a malignant chondroid tumor arising in a benign precursor. Synovial chondromatosis is a benign chondroid lesion that rarely transforms to chondrosarcoma. We present the case of a 54-year-old male with the diagnosis of low-grade secondary peripheral chondrosarcoma developed in the context of synovial chondromatosis. Cytogenetics revealed a novel aberration t(1;14)(q23.1~24;q24.1~3). Multicolor banding (mBAND) analysis described the chromosomal regions involved in this translocation with a higher detail. Diagnosis of such borderline lesions is very difficult and cytogenetics is helpful in characterizing these tumors.
Assuntos
Neoplasias Ósseas/genética , Condromatose Sinovial/complicações , Condrossarcoma/genética , Cariotipagem Espectral/métodos , Translocação Genética , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/etiologia , Condrossarcoma/diagnóstico , Condrossarcoma/etiologia , Bandeamento Cromossômico , Cromossomos Humanos Par 1/genética , Cromossomos Humanos Par 14/genética , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Extraskeletal osteosarcomas are rare tumors with neoplastic cells synthesizing bone, usually associated with poor prognosis. We present the case of a 40-year-old man with an extraskeletal osteosarcoma that was treated by surgery and adjuvant radiotherapy. Thirteen years after the diagnosis, he remains disease-free, without any recurrences or metastases. Histopathological analysis favored the diagnosis of chondroblastic extraskeletal osteosarcoma grade II. G-banding, comparative genomic hybridization (CGH), and real-time PCR for the MDM2 and CDK4 genes were performed to describe the genetic profile of this tumor and revealed aberrations that are common findings of parosteal osteosarcomas. Ring chromosomes, giant marker chromosomes, and a telomeric association were found with G-banding. CGH revealed that 12q was amplified in the ring and giant markers identified by G-banding. Real-time PCR for MDM2 and CDK4 confirmed the amplification of these genes located in 12q. Our findings suggest that a variant of extraskeletal osteosarcoma, which is genotypically similar to parosteal osteosarcoma, exists and is associated with good prognosis.
Assuntos
Cromossomos Humanos Par 12/genética , Quinase 4 Dependente de Ciclina/genética , Amplificação de Genes , Osteossarcoma/genética , Proteínas Proto-Oncogênicas c-mdm2/genética , Adulto , Neoplasias Ósseas/genética , Neoplasias Ósseas/radioterapia , Neoplasias Ósseas/cirurgia , Bandeamento Cromossômico , Hibridização Genômica Comparativa , Humanos , Masculino , Osteossarcoma/patologia , Osteossarcoma/radioterapia , Osteossarcoma/cirurgia , Prognóstico , Radioterapia Adjuvante , Reação em Cadeia da Polimerase em Tempo Real , Cromossomos em Anel , Telômero/genéticaRESUMO
Secondary peripheral chondrosarcoma is a malignant chondroid tumor arising in a benign precursor, either an osteochondroma or an enchondroma. Multiple osteochondromas syndrome (MO) is an autosomal dominant skeletal disorder associated with bony growths in the form of osteochondromas that occasionally undergo malignant transformation to secondary peripheral chondrosarcomas. We describe the genetic examination of three secondary peripheral chondrosarcomas that had arisen synchronously from osteochondromas in a patient with MO by chromosome banding, high resolution chromosomal comparative genomic hybridization, and mutation analysis of the EXT1 and EXT2 genes. In two of the tumors (the third was not genetically informative), very similar chromosome abnormalities were found, indicating that they must somehow be part of the same neoplastic process in spite of being anatomically distinct.
Assuntos
Condrossarcoma/genética , Exostose Múltipla Hereditária/genética , Transformação Celular Neoplásica/genética , Condrossarcoma/secundário , Aberrações Cromossômicas , Bandeamento Cromossômico , Hibridização Genômica Comparativa , Análise Mutacional de DNA , Exostose Múltipla Hereditária/patologia , Humanos , Cariótipo , Masculino , Pessoa de Meia-Idade , N-Acetilglucosaminiltransferases/genéticaRESUMO
Epithelioid hemangioendothelioma is a rare, well-differentiated endothelial tumor with a wide spectrum of clinical behavior and for which genetic data are extremely limited. We present a case of an epithelioid hemangioendothelioma in a 22-year-old male, which was analyzed with multiple cytogenetic approaches. Conventional cytogenetic analysis detected structural abnormalities of 11q13 and 11q14, rings, and marker chromosomes. Multi-color FISH (mFISH) and high-resolution multi-color banding (mBAND) analyses demonstrated that the aberrations of chromosome 11 were deletions and that the ring and marker chromosomes consisted of 12(q14 approximately q21) material. Comparative genomic hybridization (CGH) analysis revealed gains of 11(q13 approximately q14) and 12(q11 approximately q21), loss of 11(q21 approximately qter), and 2 amplicons at 12(q12 approximately q13) and 12(q14 approximately q21). Our data indicate that a subset of epithelioid hemangioendotheliomas may be characterized by complex rearrangements involving deletions and gains of 11q and 12q amplifications. The present case also shows that, in order to describe and understand such complex chromosome aberrations, chromosome analysis must be complemented with several molecular cytogenetic techniques.
