Imatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13: A family report.

Familial gastrointestinal stromal tumor (GIST) is a rare autosomal dominant disorder associated with mutations in the KIT gene in the majority of cases. Although, exon 11 appears to be the hot spot region for approximately 95% of germline mutations, pathogenic variations have also been identified in exon 8, 13 and 17. Exon 13 germline mutations are extremely rare amongst familial GISTs and seven families with a germline mutation have been reported to date. Moreover, the role of imatinib mesylate in this rare familiar settings is not completely known so far. We describe here clinical, imaging, pathological and genetic findings of a family with four affected members; grandmother, his son and two grand-sons having a germline gain-of-function mutation of KIT in exon 13 and discuss the imatinib mesylate treatment surveillance outcomes towards disease management.

Isolated hepatic tuberculosis: a rare cause of hepatic mass lesions.

Hepatic tuberculosis usually accompanies pulmonary and extrapulmonary tuberculosis. Although isolated hepatic tuberculosis is a very rare condition, it should be considered in the differential diagnosis of a hepatic mass. Here, we report a 42-year-old woman presenting with weight loss, fever, night sweats, and a hepatic mass on the abdominal ultrasonography and magnetic resonance imaging (MRI). Ultrasonography-guided percutaneous needle biopsy demonstrated a caseating granuloma with epithelioid histiocytes and giant cells compatible with the diagnosis of tuberculosis. The patient was treated with four anti-tuberculous drugs for 1 year. She recovered clinically, and her post-treatment abdominal MRI was normal.

Computed tomographic evaluation of lumbar spinal structures during traction.

In the previous studies, it is reported that traction diminishes the compressive load on intervertebral discs, reduces herniation, stretches lumbar spinal muscle and ligaments, decreases muscle spasm, and widens intervertebral foramina. The aim of this study was to evaluate the effects of horizontal motorized static traction on spinal anatomic structures (herniated area, spinal canal area, intervertebral disc heights, neural foraminal diameter, and m.psoas diameter) by quantitative measures in patients with lumbar disc herniation (LDH). At the same time the effect of traction in different localizations (median and posterolateral herniation) and at different levels (L4-L5 and L5-S1) was assessed. Thirty two patients with acute LDH participated in the study. A special traction system was used to apply horizontally-motorized static lumbar traction. Before and during traction a CT- scan was made to observe the changes in the area of spinal canal and herniated disc material, in the width of neural foramina, intervertebral disc heights, and in the thickness of psoas muscle. During traction, the area of protruded disc area, and the thickness of psoas muscle decreased 24.5% (p = 0.0001), and 5.7% (p = 0.0001), respectively. The area of the spinal canal and the width of the neural foramen increased 21.6% (p = 0.0001) and 26.7% (p = 0.0001), respectively. The anterior intervertebral disc height remained unchanged with traction however the posterior intervertebral disc height was significantly expanded. This study is the first to evaluated in detail and quantitatively the effect of motorized horizontal lumbar spinal traction on spinal structures and herniated area. According to detailed measures it was concluded that during traction of individuals with acute LDH there was a reduction of the size of the herniation, increased space within the spinal canal, widening of the neural foramina, and decreased thickness of the psoas muscle.

[Spontaneous rupture of mediastinal cystic teratoma (case report)]. / Mediastinal kistik teratomun spontan rüptürü

Teratomas are rare tumors in the mediastinum. Benign cystic teratomas of anterior mediastinum are rarely complicated by rupture into an adjacent body cavity. Such rupture, however, is usually associated with life-threatening complications. We present a case with spontaneous rupture of mediastinal cystic teratoma. The patient was evaluated with chest radiograph, computed tomography (CT) and magnetic resonance imaging (MRI). A complex mass including predominantly cystic components was detected in the left anterior mediastinum. After surgery, pathologic diagnosis was reported as mature cystic teratoma. High levels of amylase and lipase were detected in both the cystic fluid and serum. This finding supported the hypothesis of autolysis for the explanation of rupture. In addition, carbohydrate antigen (CA) 19-9, CA 125 and carcinoembryonic antigen (CEA) levels were high in the cystic fluid.

[Case report: Sublingual dermoid cyst]. / Sublingual dermoid kist.

Dermoid and epidermoid cysts are developmental lesions that occur in the head and neck with an incidence ranging from 1.6 to 6.9%, and they represent less than 0.01% of all oral cavity cysts. We present a case of sublingual dermoid cyst in a 19-year-old male with ultrasound and MRI features and review the literature.

Incidental bilateral leydig cell tumor of the testes.

Testis tumors are extremely rare tumors, especially if they are bilateral, interstitial tumors. We present a case with bilateral Leydig cell tumors, which were detected incidentally. First, radical left orchiectomy was performed and pathologic diagnosis was Leydig cell tumor. One week later, partial right orchiectomy was done. The diagnosis was the same. After the 12-month follow-up, no recurrence or metastasis was detected. We suggest organ-sparing surgery as an alternative in the treatment of bilateral Leydig cell tumors especially for young males, since this surgical approach prevents hormonal replacement therapy and maintains fertility and potency.