Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review.

BACKGROUND: Erythropoietic protoporphyria (EPP) is a rare inherited disease of heme biosynthesis resulting in the accumulation of protoporphyrin, characterized by liver failure in a minority of cases. Although liver transplant (LT) is the therapeutic strategy for advanced hepatic disease, it does not correct the primary defect, which leads to recurrence in liver graft. Thus, hematopoietic stem cell transplantation (HSCT) is an approach for treating EPP. METHODS: We aim to describe the first sequential LT and HSCT for EPP performed in Latin America, besides reviewing the present-day literature. RESULTS: The patient, a 13-year-old female with a history of photosensitivity, presented with symptoms of cholestatic and hepatopulmonary syndrome and was diagnosed with EPP. Liver biopsy demonstrated cirrhosis. She was submitted to a successful LT and showed improvement of respiratory symptoms. However, she had disease recurrence on the liver graft. She underwent a myeloablative HSCT using a matched unrelated donor, conditioning with BuCy (busulfan and cyclophosphamide), and GvHD (graft vs. host disease) prophylaxis with ATG (thymoglobulin), tacrolimus and methotrexate. Neutrophil engraftment occurred on D+18. She has presented mixed chimerism, but normalization of PP levels, being 300 days after HSCT, in good state of health and normal liver function. CONCLUSIONS: Consecutive LT and HSCT for EPP is a procedure that has been described in 10 cases in the literature and, even though these patients are a highly diversified population, studies have shown favorable results. This concept of treatment should be considered in patients with established liver disease.

Pancreatectomia corpo-caudal com preservação esplênica para o tratamento de tumor sólido pseudopapilar de pâncreas (Tumor de Frantz) / Corpo-caudal pancreatectomy with splenic preservation in the treatment of a solid pseudopapillary tumor (Frantz tumor)

Objetivos: descrever um caso de tumor sólido pseudopapilar de pâncreas (tumor de Frantz), neoplasia infrequente, que entretanto tem sido cada vez mais diagnosticada e relatada na literatura. Descrição do Caso: uma adolescente de18 anos consultou com queixa de dor abdominal persistente em hipocôndrio esquerdo. Ecografia abdominal e tomografia computadorizada de abdome revelaram lesão sólido-cística na transição entre o corpo e a cauda do pâncreas. A paciente foi submetida a pancreatectomia corpo-caudal com preservação esplênica. O exame anatomopatológico revelou tratar-se de um tumor sólido pseudopapilar de pâncreas. Houve excelente evolução pós-operatória, com resolução completa das queixas, estando a paciente assintomática seis meses após o procedimento. Conclusões: o tumor sólido pseudopapilar de pâncreas é uma neoplasia rara, ocorre predominantemente em mulheres jovens e é considerada uma lesão de baixo grau de malignidade. Sintoma de dor abdominal inespecífica é a apresentação clínica característica, e o diagnóstico é realizado por exames de imagem. Ressecção cirúrgica completa do tumor é o tratamento de escolha.

Aims: To present a case of solid pseudopapillary tumor (Frantz tumor), an infrequent pancreatic neoplasm, which has been increasingly diagnosed and reported in the literature. Case Description: A 18-year old woman presented with pain and tenderness in the left upper abdominal quadrant. Abdominal ultrasound and computed tomography scan revealed a solid and cystic lesion in the body of the pancreas. The patient underwent a corpo-caudal pancreatectomy with splenic preservation. Pathologic analysis of the specimen revealed a solid pseudopapillary tumor. Postoperative course was uneventful with complete resolution of the symptoms, and the patient is completely asymptomatic six months after the operation. Conclusions: Pancreatic solid pseudopapillary tumor is a rare neoplasm that predominantly occurs in young women, and is generally considered a low-grade malignant tumor. Its clinical presentation is nonspecific abdominal symptoms, and the diagnosis is performed by image tests. Complete surgical resection of primary tumor is the treatment of choice.

Synchronous gastrointestinal stromal tumors (GIST) and other primary cancers: case series of a single institution experience.

BACKGROUND: Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasm affecting the gastrointestinal tract. The incidental occurrence of mesenchymal tumors and other primary tumors has not been well described in literature. OBJECTIVE: The aim of this study was to evaluate the clinical and pathologic features of GIST occurring synchronously with other primary tumors. METHODS: Forty-three patients with diagnosis of GIST treated surgically with curative intent at our institution from 1998 to 2006 were included. The patient clinical data and pathological reports were reviewed. RESULTS: Of the 43 patients, there were 6 (14%) cases of synchronous GIST and other primary tumors discovered as coincidental findings. The synchronous GISTs analyzed were located in the stomach (50%) and small intestine (50%), size ranging from 0.7 to 7.6 cm (median 3.35 cm). Five (83%) of the concurrent primary tumors were from gastrointestinal origin and only one (17%) patient presented with concurrent breast cancer and GIST. The synchronous GISTs immunofenotype shows positivity for CD117 and CD34 (100%), smooth-muscle actin (SMA) (67%), S100 (50%) and desmin (33%). Whereas staining for cytokeratin AE1/AE3 and PDGF were all negative. According to GIST risk category for aggressive behavior three were classified as very low, one intermediate and two high. CONCLUSIONS: The synchronous occurrence of GISTs and other primary neoplasm is not an uncommon entity and usually they are discovery incidentally. Epithelial tumors of the gastrointestinal tract are the most associated with concomitant GISTs. Further studies are required to clarify the molecular and genetic mechanisms of carcinogenesis and progression associating GIST and synchronous tumors.

Febre de origem indeterminada / Febre de origem indeterminada

A febre de origem indeterminada (FOI) é uma entidade nosológica frequentemente encontrada na prática clínica diária, mas pouco lembrada durante a graduação em medicina. O objetivo desse trabalho é fazer uma revisão sobre o tema para que frente a um caso sugestivo de FOI, esse diagnóstico seja identificado, facilitando sua abordagem diagnóstica e terapêutica.