Indication of total parathyroidectomy for an Epstein syndrome patient with end-stage renal disease.

Epstein syndrome is an extremely rare genetic disorder characterized by the association of nephritis, deafness and megathrombocytopenia. We present the case of a 21-year-old patient diagnosed with Epstein syndrome and hyperparathyroidism secondary to chronic kidney disease. The main particularity of this case resides in the association between megathrombocytopenia and secondary hyperparathyroidism requiring surgery, which could lead to a series of concerns regarding the intra- and postoperative hemorrhagic risk of the procedure. Nevertheless, both the surgical procedure and the postoperative recovery were uneventful, suggesting that the lower threshold for preoperative thrombocyte count in megathrombocytopenia should be specifically considered on an individual case analysis.

The morphological profile of small bowel tumors - our experience.

AIM: The authors assessed the morphological profile of tumor masses belonging to the small bowel discovered in their daily practice. MATERIALS AND METHODS: 31 tumor masses located in different segments of small intestine operated between 2002 and 2013 in the 1st Surgical Department, Emergency County Hospital of Craiova, Romania, were analyzed. The investigated parameters were: tumor location and number, tumor dimensions, gross assessment, tumor extension and histological assessment. RESULTS: Tumor masses belonging to small intestine were rare. They usually expressed by their complications. In many cases, they were placed at the extremities of the small intestine. They were usually small but sometimes large and developing outwards intestinal wall. Commonly they had a fungating and ulcerated appearance. They were rather of mesenchymal origin than epithelial. However, some of them were inflammatory pseudotumors. Almost all neoplastic proliferations had a malignant phenotype, most often with regional extension. CONCLUSIONS: Our series of tumors had a morphological profile somehow similar with the profile described in the literature but with some particularities: the polarization to the extremities of the intestinal segment, a significant number of large tumors, clinical expression through different complications, the balance inclined in favor of mesenchymal origin of tumors and the clear predominance of malignant aggressive phenotype.

Severe upper gastrointestinal bleeding from gastrointestinal stromal tumor of the stomach.

Gastrointestinal stromal tumor (GIST) is a mesenchymal tumor originating from the Cajal interstitial cells, immunologically characterized by the c-kit gene. The evolution may be asymptomatic, discovered by chance during a necropsy, upper gastrointestinal endoscopy or due to complications of type-algic, occlusive or hemorrhage. We present the case of a voluminous gastric GIST complicated with serious upper gastrointestinal bleeding in a patient with multiple hard associated diseases, undergoing an emergency surgery in hemorrhagic shock. The surgery consisted in the resection of the upper polar esogastric, the pathological and immunohistochemistry tests confirming the diagnosis of GIST. The evolution was unfavorable at discharge after 45 days after surgery by an anastomotic fistula.

Squamous cell carcinoma developed on chronic venous leg ulcer.

Chronic venous leg ulcers (VLU), especially long-lasting non-healing ulcers, are among the risk factors for squamous cell carcinoma (SCC). Malignant transformation of a VLU is a rare finding and the relative risk of carcinomatous transformation is quite low (about 5.8). SCC arising in the context of a VLU has a particularly aggressive behavior. A 76-year-old male patient with no relevant medical familial history, with chronic venous insufficiency CEAP C6 for 10 years [recurrent leg ulcers with favorable outcome (healing) after specific local and systemic treatment], showing for about three years one ulcerated lesion located on the anterior upper third of the right calf non-responsive to specific treatment, which subsequently increased their size and merged. Biopsy sample was taken. Histopathology showed epidermal acanthosis, papillomatosis, intense parakeratosis, pseudoepitheliomatous hyperplasia, dysplasia and moderately differentiated squamous cell carcinoma with areas of acantholysis. Immunohistochemistry (Ki67, EMA, cytokeratin 34ßE12 and p63) was performed and all types of immunostaining were moderately to intense positive. Above-knee leg amputation and specific oncologic treatment were proposed as possible curative solutions but the patient refused. Ten months after diagnosis and discharge form the Department of Dermatology, the patient died. Patients with chronic venous leg ulcers and clinically suspicious lesions should be evaluated for malignant transformation of the venous lesion. When diagnosed, malignancy complicating a chronic venous leg ulcer requires a resolute treatment as it may be fatal.

Gastrointestinal stromal tumors - a clinical-morphological study on 15 cases.

AIM: The authors present their experience in addressing the gastrointestinal stromal tumors (GIST). MATERIALS AND METHODS: 15 GISTs operated in the last five years (2008-2013) were analyzed. RESULTS: The preoperative diagnosis was difficult: established by clinical examination and CT in two cases; imagistic accidental discovery in four cases and revealed by evolving complications in nine cases (gastrointestinal bleeding in four cases and bowel obstruction in five cases). CT may be useful in the preliminary estimation of the tumor extent. Tumor location was: stomach four, duodenum one, small bowel seven, and colon three. Pathological examination set the main criteria for assessing the risk of recurrence and indication for adjuvant therapy: the tumor size, the histological type (spindle cell nine, epithelioid four, and mixed two) and the mitosis rate, while the immunohistochemistry examination established the correct diagnosis (positivity for CD117 and CD34) and criteria of aggressiveness (positivity for Ki67). All cases were operated, the surgical procedure being chosen according to the tumor location and stage. Adjuvant therapy with Imatinib 400 mg/day was performed in the 12 cases with high risk of recurrence. The therapeutic outcome was: a postoperative morbidity rate of 13.3%, four patients cured, one local recurrence under Imatinib therapy, a mortality rate of 6.6% and 10 patients in different phases of adjuvant therapy. CONCLUSIONS: GIST has been imposed over the last decade as the main type of non-epithelial tumor of the digestive tract. The preoperative imagistic investigations can be very useful for setting the surgical strategy. The improvement of the mitotic index and/or Ki67 labeling index (LI) determination could render more accurate the scales for prognostic assessment. The two steps algorithm - surgery + adjuvant therapy - still remains the only option to make this dangerous condition a curable one.