RESUMO
Sacral giant cell tumors are rare neoplasms, histologically benign but potentially very aggressive due to the difficulty in achieving a complete resection, their high recurrence rate, and metastization capability. Although many treatment options have been proposed, en bloc excision with tumor-free margins seems to be the most effective, being associated with long term tumor control, improved outcome, and potential cure. An exemplifying case of a 29-year-old female with progressive complaints of pain and paresthesias in the sacral and perianal regions, constipation, and weight loss for 6 months is presented. The surgical technique for en bloc excision of a large sacral giant cell tumor through a modified Kraske procedure with mid-sacrectomy and coccygectomy is described. Complete resection with wide tumor-free margins was achieved. At 5 years of follow-up the patient is neurologically intact, without evidence of local recurrence on imaging studies. A multidisciplinary surgical procedure is mandatory to completely remove sacral tumors. In the particular case of giant cell tumors, it allows minimizing local recurrence preserving neurovascular function, through a single dorsal and definitive approach.
RESUMO
Gastrointestinal stromal tumors (GIST) are an uncommon group of tumors of mesenchymal origin. GIST of the anal canal is extremely rare. At present, only 10 cases of c-kit positive anal GIST have been reported in the literature. There is no widely accepted treatment approach for this neoplasia. Literature is sparse on imaging evaluation of anal canal GIST, usually described as a lesion in the intersphincteric space. We describe the case of a 73-year-old man with a mass in the anal canal, and no other symptoms. Endoanal ultrasound and magnetic resonance imaging showed a well circumscribed solid nodule in the intersphincteric space. The patient was treated by local excision. Gross pathological examination showed a 7 cm × 3.5 cm × 3 cm mass, and histological examination showed a proliferation of spindle cells, with prominent nuclear palisading. The mitotic count was of 12 mitoses/50 HPF. The tumor was positive for KIT protein, CD34 and vimentin in the majority of cells, and negative for desmin and S100. A diagnosis of GIST, with high risk aggressive behavior was made. An abdomino-perineal resection was discussed, but refused. The follow-up included clinical evaluation and anal ultrasound. After 5 years the patient is well, with maintained continence and no evidence of local recurrence.
Assuntos
Canal Anal/patologia , Neoplasias do Ânus/patologia , Tumores do Estroma Gastrointestinal/patologia , Idoso , Canal Anal/química , Canal Anal/cirurgia , Neoplasias do Ânus/química , Neoplasias do Ânus/cirurgia , Biomarcadores Tumorais/análise , Biópsia , Endossonografia , Tumores do Estroma Gastrointestinal/química , Tumores do Estroma Gastrointestinal/cirurgia , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Masculino , Índice Mitótico , Resultado do TratamentoAssuntos
Aneurisma/complicações , Aneurisma/diagnóstico por imagem , Endossonografia , Ectasia Vascular Gástrica Antral/complicações , Ectasia Vascular Gástrica Antral/diagnóstico por imagem , Hemorragia Gastrointestinal/diagnóstico por imagem , Hemorragia Gastrointestinal/etiologia , Artéria Esplênica/diagnóstico por imagem , Idoso de 80 Anos ou mais , Aneurisma/cirurgia , Diagnóstico Diferencial , Endoscopia do Sistema Digestório , Gastrectomia , Hemorragia Gastrointestinal/cirurgia , Humanos , Masculino , Pancreatectomia , Esplenectomia , Artéria Esplênica/cirurgiaRESUMO
Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC gene, the MYH polyposis is an autosomal recessive disease. The identification of individuals affected by MYH polyposis brings new and important implications for the diagnostic, screening, genetic counseling, follow up and therapeutic options in these patients. In this study, screening for germinal mutations in the MYH gene was performed in 53 Portuguese individuals with multiple colorectal adenomas or classic adenomatous polyposis, in whom no mutation had been identified in the APC gene. The results revealed the presence of biallelic germline MYH mutations in 21 patients. In addition, we here report 3 mutations (c.340T>C [p.Y114H]; c.503G>A [p.R168H]; and c.1186_1187insGG [p.E396fsX437]) which, to our knowledge, have not been previously described.