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A new case of Carney triad: gastrointestinal stromal tumours and leiomyoma of the oesophagus do not show activating mutations of KIT and platelet-derived growth factor receptor alpha.

The Carney triad is a rare syndrome of unknown aetiology, with synchronous or metachronous appearance of rare neoplasms: gastrointestinal stromal tumours (GISTs), pulmonary chondromas and extra-adrenal paragangliomas. In most cases, the Carney triad is incomplete. The combination encountered typically, GISTs and pulmonary chondromas, was also seen in our patient, a 22-year-old woman. She was diagnosed with the triad after Billroth II gastrectomy for histologically proved gastric GISTs. The diagnosis of pulmonary chondromas was confirmed by transthoracic, computed tomography-guided needle biopsy. An oesophageal leiomyoma was resected 2 years after the initial diagnosis, on suspicion of paraganglioma. The clinical course of the patient has been uneventful since. The last follow-up was carried out 6 years after the initial diagnosis. On histological examination, the cells of gastric GIST were partly positive for CD34, whereas CD117 was expressed in all areas in variable intensity and S-100 protein was negative. The oesophageal tumour was classified as leiomyoma due to strong immunopositivity for smooth muscle actin and desmin, being negative for CD34 and CD117. Two different gastric GIST lesions as well as the oesophageal leiomyoma and normal tissue were analysed for activating mutations in common hot spots of KIT (exon 9 and 11) and platelet-derived growth factor receptor alpha (exon 18), but in all probes wild-type sequences were found. These results are in accordance with the first published analyses of GIST lesions from Carney patients.

Adult↗

Gastrointestinal stromal tumors of the stomach: two case reports.

Gastrointestinal stromal tumors, commonly known as GISTs, are non-epithelial gastrointestinal neoplasms seen with increasing frequency in clinical practice. These tumors were formerly classified as leiomyoblastomas or leiomyosarcomas. Recent advances in immunohistochemistry have identified gastrointestinal stromal tumors as a unique entity. Gastrointestinal stromal tumors are unique in that these neoplasms originate from the interstitial cells of Cajal, the pacemaker cells of the gastrointestinal tract. The initial events that lead to unregulated smooth muscle proliferation are unclear. Recent advances may elucidate the genetic mutations responsible. With the recent advances in cell histochemistry and gene mapping there is renewed interest in the early diagnosis and treatment of GI stromal tumors. As our understanding of GI stromal tumors improves, clinicians now must recognize GIST as a neoplasm with its own biology and treatment algorithms. The purpose of this paper is to present two cases and review recent literature to gain a better understanding of how to diagnose and treat gastrointestinal stromal tumors in clinical practice.

Female↗

A novel double-channel therapeutic endoscope ("R-scope") facilitates endoscopic submucosal dissection of superficial gastric neoplasms.

BACKGROUND AND STUDY AIM: Endoscopic submucosal dissection (ESD) is a new and radical treatment for superficial gastrointestinal neoplasms that provides high rates of en bloc resection compared with treatment by conventional mucosal resection. However, ESD is a complex procedure that is associated with long operating times and a higher complication rate. This feasibility study assessed the use of a novel double-channel therapeutic endoscope for performing en-bloc ESD in order to assess whether the procedure time could be shortened. PATIENTS AND METHODS: The therapeutic endoscope we used (the "R-scope") is equipped with a multibending system and has two movable instrument channels: one moves a grasping forceps vertically for lesion countertraction; the other swings a cutting knife horizontally for dissection. Twenty consecutive patients (18 men, 2 women; mean age 63 years, range 54 - 80 years) with superficial gastric neoplasms in the distal two-thirds of the stomach underwent resection of their tumor by ESD using the R-scope. Forty size- and location-matched gastric neoplasms resected by conventional ESD were reviewed retrospectively for the purposes of comparison. RESULTS: The rates of curative en-bloc resection, complications, and local recurrence using the two ESD methods were comparable. The mean +/- SD operating time was significantly shorter for ESD using the R-scope than for conventional ESD (57.9 +/- 29.7 minutes vs. 92.8 +/- 58.9 minutes, P = 0.016). CONCLUSION: The R-scope appears to shorten the operating time of ESD with comparable efficacy and complication rates.

Aged↗

Endoscopic photodynamic therapy with haematoporphyrin derivative in gastroenterology.

Endoscopic photodynamic therapy (PDT) with haematoporphyrin derivative was used in the primary treatment of 69 patients with inoperable gastrointestinal neoplasms. Patients were divided into three groups: 31 with oesophageal squamous cell carcinoma, 17 with adenocarcinoma of the stomach or lower third of the oesophagus and 21 with rectosigmoid adenocarcinoma. After infusion of 2.5-5.0 mg haematoporphyrin derivative per kilogram of body weight, lesions were irradiated using an argon dye laser (632 nm). During a follow-up period averaging 20 months (27.9 months for 35 surviving patients), complete local tumour destruction and negative histology were observed in 32 out of 69 cases. Flow-cytometric analysis of DNA content before and after PDT suggests that a clonal selection occurs in some cases of treatment failure. The results of this open pilot study suggest the potential efficacy of PDT as a curative treatment for selected cases of inoperable gastrointestinal cancers.

Adenocarcinoma↗

Dynamics of circadian fluctuations in serum concentration of cortisol and TNF-alpha soluble receptors in gastrointestinal cancer patients.

The objective of the study was to investigate the dynamic changes of cortisol and soluble TNF-alpha p-55 and p-75 receptors in serum of advanced cancer patients during 24 h. The examined group consisted of 42 patients suffering from advanced gastrointestinal neoplasms (colorectal, gastric and pancreatic cancer). Serum levels of cortisol, TNF-alpha and both receptors in cancer patients were measured using ELISA type kits 6 times a day (8.00 a.m., 2.00 p.m., 6.00 p.m., 10.00 p.m., 2.00 a.m. and again 8.00 a.m.) as well as in healthy controls. The levels of cortisol, TNF-alpha and its soluble receptors were substantially increased in examined group and displayed statistically significant circadian fluctuations. Cortisol peak was found typically at 8.08 a.m., the minimum value appeared at 6 p.m. The presence of circadian rhythm of the cytokine was proved (acrophase -00.36 a.m.), however no diurnal rhythm of soluble TNF receptors was observed. The concentration of p-55 receptor was distinctly lower then p-75. The peak p-55 value appeared at 10.00 p. m. while the p-75 reached its minimum level at the same time. Although there was no statistical correlation between the receptor concentrations the shapes of both curves remained in inversely proportional manner to each other. The present results may suggest the presence of complex self-regulation mechanisms in advanced gastrointestinal cancer patients. There was no correlation observed between cortisol and TNF-alpha soluble receptor concentration.

Adult↗

Familial polyposis coli & Gardner's syndrome.

Familial polyposis coli and Gardner's syndrome are genetically inherited defects causing multiple adenomatous polyps of the colon with a propensity for malignant degeneration. To emphasize that neoplasm of the ampulla of Vater is the most frequently reported extracolonic gastrointestinal neoplasm, we present a case report and a review of the literature.

Adenocarcinoma↗

True smooth muscle neoplasms of the gastrointestinal tract: morphological spectrum and classification in a series of 85 cases from a single institute.

BACKGROUND AND AIM: True smooth-muscle neoplasms of the GI tract have been only rarely studied in the KIT era. Their incidence among other GI mesenchymal tumours and their clinicopathological spectrum have not been sufficiently analysed. MATERIALS AND METHODS: We reviewed all GI mesenchymal lesions at the Pathology Institute of the Nuremberg Clinic Centre from 1994 through 2005. RESULTS: Among 262 lesions, there were 142 GISTs (54%) and 85 true smooth muscle neoplasms (32%). Smooth muscle neoplasms comprised 72 polypoid leiomyomas (78%, 5 oesophageal and 67 colorectal), 10 intramural leiomyomas (11%, 5 oesophageal, 4 gastric and one ileal), two intramural leiomyosarcomas in the sigmoid colon and ileum (2%) and one polypoid leiomyosarcoma involving the stomach, descending colon and the retroperitoneum concurrently. None of the leiomyomas with available follow-up have recurred or metastasised. CONCLUSION: Smooth muscle neoplasms are the second most common mesenchymal neoplasms in the GI tract after GISTs. They may arise either from the muscularis mucosae or proper muscle layer forming polypoid and intramural lesions, respectively. Polypoid leiomyomas are more common in the rectosigmoid, while intramural ones mainly arise in the vicinity of the oesophagogastric junction. Polypoid leiomyomas are sufficiently treated by endoscopic resection, and local surgical excision is the treatment of choice for intramural leiomyomas. Intramural leiomyosarcomas are rare high-grade sarcomas that commonly have infiltrated into the surrounding tissue or metastasised by the time of diagnosis.

Adult↗

Role of endoscopic ultrasonography in diagnosis, staging, and outcome of gastrointestinal diseases.

Using endoscopic ultrasound imaging, highly accurate gastrointestinal tumor characterization and staging is now possible without surgery. Precise endosonographic preoperative staging allows use of the TNM pathological staging system to stratify treatment for esophageal, gastric, rectal, and pancreatobiliary tumors. Endoscopic ultrasonography often establishes a diagnosis in malignant and, in certain patients, benign disease; accurately evaluates anastomoses for recurrent tumor; and characterizes submucosal masses. When histology is required, endoscopic ultrasonography has a critical role in defining an abnormal area for deep submucosal biopsy from the gastrointestinal lumen. Endoscopic ultrasonography is unsurpassed in determining resectability of gastrointestinal neoplasms. It can be used to monitor treatment of downstaged tumors prior to attempted resection. Using endoscopic ultrasonography for earlier diagnosis and precise staging will significantly improve the clinical outcome of patients with gastrointestinal disease as significant advances both in surgical techniques and in combined chemotherapy and radiotherapy continue to be made and applied selectively.

Digestive System Diseases↗

[Primary neoplasms of the jejunum-ileum. The clinico-diagnostic and surgical therapy considerations: the clinical cases and a retrospective study of our experience].

Primary tumors of the jejunum-ileum are rare and constitute about 2% of gastrointestinal neoplasms. The first clinically reported small bowel tumor was a jejunal carcinoma described in 1824 by Sorlin. The authors reviewed our surgical experience of 9 patients treated at the Department of General Surgery of the "E. Franchini" Hospital of Montecchio Emilia (Re) during a 13-years period from 1984 to 1997. On the basis of literature on the topic, the following are taken into consideration, the history, the incidence, the epidemiology, the aetiopathogenesis, the clinical characteristics, the diagnostic, the surgical therapy of these tumors. The subjects included 6 males and 3 females. The average age of the patients was 66 years, with a male predominance ratio of 2:1. Of the seven primary malignant tumors observed, two patients had adenocarcinomas, two had leiomyosarcomas, two had lymphomas and one carcinoid. The benign tumors were respectively leiomyomas and small intestinal stromal tumor. The most common signs and symptoms were abdominal pain and obstruction of the intestine. Preoperative diagnosis was established in 4 of these patients only by roentgenographic examinations, in 2 by ultrasound scan, in 2 by ultrasound scan and computed tomography, in 1 by endoscopic examination. All the 9 tumors were resected: in 7 patients (77.7%) the resection were considered as curative and in 2 patients (22.3%) palliative. All operated patients were staged by the TNM-classification using pathological and surgical reports. The staging of the disease was the following: 2 patients with stage 1 (T2N0M0), 2 patients with stage II (T4N0M0), 3 patients with stage III (1 with T3N1M0 and 2 with T4N1M0), 2 patients with stage IV (T4N1M1). Survival correlated with the different TNM stage: the median survival time was 60 months for stage I, 60.5 months for stage II, 40 months for stage III and 18 months for stage IV.

Adult↗