RESUMO
BACKGROUND: Pituitary tumors, paragangliomas, and Cowden syndrome do not usually occur together. METHODS: The synchronous presentation of papillary thyroid carcinoma and neck paraganglioma was revealed in a 43-year-old woman who had been diagnosed with a microprolactinoma one decade before and now presented with a constellation of characteristics that are components of Cowden syndrome, specifically macrocephaly, multiple skin papules, fibrocystic mammary disease, and uterine leiomyofibroma. RESULTS: Germline mutation analysis of phosphatase and tensin homolog (PTEN), succinate dehydrogenase subunit B (SDHB), succinate dehydrogenase subunit C (SDHC), and succinate dehydrogenase subunit D (SDHD) was performed with revelation of 3 polymorphic sites in introns 1, 4, and 8 of the PTEN gene and 1 polymorphic site in exon 1 of the SDHB gene, but absence of known pathogenic mutations. CONCLUSION: The coexistence of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma is described for the first time, and could represent a novel genetic syndrome with an as yet unidentified common genetic basis.
Assuntos
Predisposição Genética para Doença , Síndrome do Hamartoma Múltiplo/diagnóstico , Neoplasias de Cabeça e Pescoço/diagnóstico , Doenças Mitocondriais/diagnóstico , Neoplasias Primárias Múltiplas/diagnóstico , Paraganglioma/diagnóstico , Neoplasias Hipofisárias/diagnóstico , Biópsia por Agulha , Feminino , Testes Genéticos , Mutação em Linhagem Germinativa , Síndrome do Hamartoma Múltiplo/genética , Síndrome do Hamartoma Múltiplo/cirurgia , Neoplasias de Cabeça e Pescoço/genética , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética/métodos , Pessoa de Meia-Idade , Doenças Mitocondriais/genética , Doenças Mitocondriais/cirurgia , Neoplasias Primárias Múltiplas/genética , Neoplasias Primárias Múltiplas/cirurgia , Paraganglioma/genética , Paraganglioma/cirurgia , Neoplasias Hipofisárias/genética , Neoplasias Hipofisárias/cirurgia , Doenças Raras , Tomografia Computadorizada por Raios X/métodos , Ultrassonografia DopplerRESUMO
The main aim of this study was to determine the effect of zoledronic acid (ZOL) on parameters of dual-energy X-ray absorptiometry (DXA) and quantitative ultrasound (QUS) in unaffected bones of patients with Paget's disease of bone (PDB). The secondary aim was the association of bone markers and Dickkopf (DKK)-1 with parameters of DXA and QUS. Ten consecutive patients with polyostotic PDB (median age: 63 yr) received a single 5-mg ZOL infusion. The patients were subjected to calcaneal QUS and DXA of both lumbar spine (LS) and femoral neck (FN). Blood samples for serum bone markers and DKK-1 were serially obtained for 12 mo. There was a significant increase in LS (p=0.005) and FN bone mineral density (BMD) (p=0.021) 12 mo after ZOL infusion. QUS parameters remained unaffected throughout the study. A significant correlation between broadband ultrasound attenuation and DKK-1 (p<0.001) and between speed of sound and DKK-1 (p=0.033) at baseline was found, which remained significant after adjustment for gender, age, and body mass index. Our data suggest that a single ZOL infusion significantly increases nonpagetic BMD 12 mo after treatment but has no effect on QUS parameters or DKK-1. Significant correlations were observed between QUS parameters and DKK-1 at baseline.
