RESUMO
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by fetal macrosomia, macroglossia, and abdominal wall defects. BWS patients are at risk to develop Wilms tumor, neuroblastoma, hepatoblastoma, and adrenal tumors. A young woman with BWS features, but with inconclusive genetic evidence for the disease, came to clinical observation for signs of virilization at the age of 16 years. An adrenocortical tumor was diagnosed and surgically resected. The tumor underwent 2 local relapses that were also surgically treated. The patient was also operated to remove a breast fibroadenoma. SNP arrays were used to analyze chromosome abnormalities in normal and tumor samples from the patient and her parents. The patient presented genome-wide mosaic paternal uniparental disomy (patUPD) both in the adrenocortical and the breast tumors, with different degrees of loss of heterozygosity (LOH). The more recent relapses of the adrenocortical tumor showed a loss of part of chromosome 17p that was absent in the first tumor. Analysis of a skin biopsy sample also showed mosaic patUPD with partial LOH, while no LOH was detected in leukocyte DNA. This case shows that virilizing adrenocortical tumors may be a clinical feature of patients with BWS. The SNP array technology is useful to diagnose genome-wide patUPD mosaicism in BWS patients with an inconclusive molecular diagnosis and underlines the tumorigenic potential of the absence of the maternal genome combined with an excess of the paternal genome.
Assuntos
Neoplasias do Córtex Suprarrenal/genética , Síndrome de Beckwith-Wiedemann/genética , Dissomia Uniparental , Virilismo/genética , Adolescente , Feminino , Hirsutismo/genética , Humanos , Polimorfismo de Nucleotídeo Único , Adulto JovemRESUMO
Microbial contamination of the liver parenchyma leading to hepatic abscess (HA) can occur via the bile ducts or vessels (arterial or portal) or directly, by contiguity. Infection is usually bacterial, sometimes parasitic, or very rarely fungal. In the Western world, bacterial (pyogenic) HA is most prevalent; the mortality is high approaching 15%, due mostly to patient debilitation and persistence of the underlying cause. In South-East Asia and Africa, amebic infection is the most frequent cause. The etiologies of HA are multiple including lithiasic biliary disease (cholecystitis, cholangitis), intra-abdominal collections (appendicitis, sigmoid diverticulitis, Crohn's disease), and bile duct ischemia secondary to pancreatoduodenectomy, liver transplantation, interventional techniques (radio-frequency ablation, intra-arterial chemo-embolization), and/or liver trauma. More rarely, HA occurs in the wake of septicemia either on healthy or preexisting liver diseases (biliary cysts, hydatid cyst, cystic or necrotic metastases). The incidence of HA secondary to Klebsiella pneumoniae is increasing and can give rise to other distant septic metastases. The diagnosis of HA depends mainly on imaging (sonography and/or CT scan), with confirmation by needle aspiration for bacteriology studies. The therapeutic strategy consists of bactericidal antibiotics, adapted to the germs, sometimes in combination with percutaneous or surgical drainage, and control of the primary source. The presence of bile in the aspirate or drainage fluid attests to communication with the biliary tree and calls for biliary MRI looking for obstruction. When faced with HA, the attending physician should seek advice from a multi-specialty team including an interventional radiologist, a hepatobiliary surgeon and an infectious disease specialist. This should help to determine the origin and mechanisms responsible for the abscess, and to then propose the best appropriate treatment. The presence of chronic enteric biliary contamination (i.e., sphincterotomy, bilio-enterostomy) should be determined before performing radio-frequency ablation and/or chemo-embolization; substantial stenosis of the celiac trunk should be detected before performing pancreatoduodenectomy to help avoid iatrogenic HA.
Assuntos
Abscesso Hepático , Antibacterianos/uso terapêutico , Ablação por Cateter , Quimioembolização Terapêutica , Terapia Combinada , Drenagem , Humanos , Abscesso Hepático/diagnóstico , Abscesso Hepático/etiologia , Abscesso Hepático/terapiaRESUMO
UNLABELLED: Splenic metastases develop in less than 1% of all metastatic cancers, and typically occur in a setting of disseminated disease. When isolated splenic metastasis occurs, the patient may be a candidate for aggressive treatment consisting mainly of splenectomy as described in the literature. However, the increased incidence of post-operative morbidity and severe infection after splenectomy are well known. We report a case of splenic metastasis that developed from colorectal cancer and was treated by laparoscopic-guided radiofrequency ablation. We reviewed the few reported cases of splenic metastasis (from colorectal and other primary cancers) treated by thermal ablation using radiofrequency (RF) or microwave (MW) energy sources. DISCUSSION: Many studies have proved that thermal ablation for benign splenic pathology is both feasible and safe with no sacrifice in efficacy. However only a few cases of MW or RF treatment of splenic secondary tumor have been described; no complications have been reported with this treatment in contrast to the 15 to 27% morbidity rate for splenectomy. CONCLUSION: When treatment of splenic metastasis is proposed with curative intent, thermal ablation by RF or by MW seems to be a feasible and safe technique resulting in spleen conservation with a low morbidity rate. Because of these features, thermal ablation seems an ideal treatment modality to obliterate splenic metastasis and may be an indispensable tool in the armamentarium of modern splenic surgery.