Assessment of MYCN amplification status in Tunisian neuroblastoma: CISH and MLPA combining approach

Background: Neuroblastoma [NB] shows a complex combination of genetic aberrations. Some of them represent poor genetic prognosis factors that require specific and intensive chemotherapy. MYCN amplification consists of the major bad outcome prognostic factor, it is indeed frequently observed in aggressive neuroblastomas. To date different methods are used for MYCN status detection

Objectives: The primary aim of our study was to provide a critical assessment of MYCN status using 2 molecular techniques CISH and MLPA. We also focused on the correlation between neuroblastoma genetic markers and patient's clinical course among 15 Tunisian patients

Methods: we developed a descriptive study that includes 15 pediatric Tunisian patients referred to our laboratory from 2004 to 2011. We reported the analysis of fresh and FFPE NB tumors tissues

Results:No significant correlation was found between COG grade and patients overall survival. Assessment of NMYC gene copy number by kappa statistic test revealed high concordance between CISH and MLPA tests [kappa coefficient = 0.02]

Conclusion: Despite misdiagnosing of MYCN status fewer than 5 copies, MLPA remains an effective molecular technique that enables a large panel of genomic aberrations screening. Thus combining CISH and MLPA is an effective molecular approach adopted in our laboratory. Our results allow pediatric oncologists to set up the first Neuroblastoma therapeutic strategy based on molecular markers in Tunisia

[Epidemiological, clinical features therapeutic results and evolution of gastrointestinal stromal tumour: about 25 cases]

Gastrointestinal stromal tumors [GIST] are mesenchymal tumors occuring in the majority of cases in the stomach and small intestine, rarely in rectum, colon, esophagus or mesentery. They are derived from cells of cajal or their precursor, and are typically CD117/KIT + [95%], CD34 + [70%]. aims: is to study the epidemiological, clinical, therapeutic and evolution of astrointestinal stromal tumors. Retrospective study including all patientswith the diagnosis of GIST supported in the department of gastroenterology and surgery in universital hospital of Monastir. 25 patients were included, 12 men and 13 women with an average age of 60.5 years. Digestive symptomatology was dominated by gastrointestinal bleeding [n = 12] and abdominal pain [n = 12]. The tumor was discovered incidentally in two patients. The small intestine was the most common site of the tumor [n = 10], followed by the stomach in 9 patients, rectum in two patients, the colon [n = 1], the bulb of water [n = 1], duodenum [n = 1] and liver in a patient. The tumor size ranged from 0.8 to 24 cm. GIST was localized in 16 patients, in whom therapeutic care based mainly on surgery and optimal broad. It was metastatic in 9 patients, in whom treatment using imatinib as first-line in 4 of them with a good response in 3 patients and the possibility of R0 surgery in one patient, initial stabilization and then a secondary exhaust in a patient. The first surgery was necessary in 5 patients in complicated situation or if diagnostic doubt. The best characterization of GIST thanks to advances in cancer research has led to improved treatment of these tumors. Surgery is the standard treatment in localized forms. Imatinib is the standard treatment in metastatic GIST first line as well as adjuvant after surgery

[Ischemic colitis as a first sign of primary antiphospholipid ntibody syndrome. acase report]

The primitif antiphospholpid antibody syndrome is a clinico-biologic entity characterized by the arterio-venous thromboses and the presence of circulating antibodies against membranous phospholipids. The systemic demonstrations and in. particular ulcerated and ischemic colitises are brought back unusually during this affection. Report a new case. We bring back one observations of ischemic colitis complicated of perforation revealing a primitif antiphospholpid antibody syndrome at a male patient aged of 45 and requiring the surgical intervention. This observation recall an exceptional etiology but often unrecognized of ischemic colitises

[Cardiac amyloidosis revealing multiple myeloma]

Amyloidosis is a rare disease characterized by an extracellular accumulation of a protein polysaccharide complex [Amyloid]. Cardiac involvement is considered as a major prognostic factor. We report the case of two women, hospitalized for heart failure. The diagnosis of cardiac amyloidosis was suggested by echocardiography left ventricular concentric hypertrophy and typical amyeloid infiltration with hyperechoic. shiny and granite-like aspect of the interventricular septum. The histological confirmation was obtained by gastric biopsy in the first case and biopsy of the salivary glands in the second revealing an amyloidosis AL. This cardiac amyloidosis was secondary to multiple myeloma: monoclonal Gammopathy with immunoglobulin Lambda in the first and Kappa in the second, and the presence of a plasmocyte infiltration in the sternal puncture. Amyloidosis is a rare pathology, the cardiac involvement is frequent in the type AL and can occur with or without clinical manifestations. Echocardiography should be systematic in patients with confirmed amyloidosis