Huge mesenteric desmoid-type fibromatosis with unusual presentation: A case report.

Introduction: Desmoid-type fibromatosis, also known as desmoid tumors, are rare fibroblastic neoplasms that account for less than 3% of all soft tissue tumors. Although they are benign neoplasms without metastatic potential, they are known to be locally aggressive and may invade adjacent structures leading to fatal complications. Case presentation: We describe the case of a 26-year-old woman who presenting with the clinical picture of acute peritonitis. Emergency surgery was performed and a large poorly-circumscribed heterogeneous tumor was found, occupying the jejunum mesentery and infiltrating the jejunal wall causing its perforation into the abdominal cavity. En bloc resection of the tumor and the involved jejunum was performed. Histology and immunohistochemistry confirmed it to be mesenteric desmoid-type fibromatosis. The postoperative course was uneventful and the patient had no evidence of recurrence 18 months after tumor resection. Conclusions: Mesenteric desmoid-type fibromatosis is a rare condition with insidious growth and locally aggressive behavior. Serious complications such as bowel perforation are rare but possible, as shown in our presentation. Complete surgical resection is the first-line treatment bur high recurrence rates remain problematic.

Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing.

Non-Immune Hydrops Fetalis (NIHF) is an intrauterine condition characterized by excessive fluid accumulation in at least two fetal compartments in the absence of maternal circulating red cell antibodies. It is associated with a poor prognosis and a wide etiological spectrum. Among the metabolic causes, Mucopolysaccharidosis type VII depicts the most frequent type of lysosomal storage disorders in the cause of NIHF. Nonetheless, it remains an ultra-rare disorder, as less than 150 cases have been reported in the literature. This rarity seems to be related to misdiagnosis since the underlying etiology remains unelusive in most cases of NIHF. In this report, we describe the first Tunisian case of Mucopolysaccharidosis type VII caused by a homozygous mutation in the GUSB gene confirmed by a Next-Generation Sequencing gene panel in a patient with recurrent NIHF.

Cutaneous leiomyosarcoma mimicking arteriovenous malformation.

There is a clinical overlap between hypervascularized sarcomas and arteriovenous malformations (AVM). MRI imaging should be interpreted with caution keeping in mind that some cancers could mimic AVM. A biopsy is mandatory in doubtful cases.

Primary neuroendocrine tumour of the common hepatic duct: An unexpected Klatskin-like lesion.

The biliary system is an uncommon location for neuroendocrine tumours (NETs), and within this system, the common hepatic duct is an even more rare site for NETs. Clinical and radiological presentations are challenging because these tumours may be preoperatively confused with Klatskin-like lesions. Here we report a well-differentiated grade 2 NET arising from the common hepatic duct in a 64-year-old female. Curative surgery was performed, and no evidence of recurrent disease was observed at the 2-months follow-up.

Predictive factors for histological response to neo-adjuvant treatment in rectal cancers.

INTRODUCTION: The complete histological response represents the goal of neo-adjuvant treatment of locally advanced rectal cancer. This objective is a real challenge requiring the research of predictive factors for this response, from the perspective of targeted therapeutic strategies. The results of the various studies focused on these predictive factors are discordant. AIM: To seek a correlation between 7 prognostic factors tested in pre-therapy and the histological response to neo-adjuvant treatment. METHODS: A retrospective study involving 44 patients with locally advanced rectal adenocarcinoma who received neo-adjuvant radiotherapy or radiochemotherapy. The 7 prognostic factors studied were clinical (age and sex), radiological (tumor size and parietal invasion) and histological (histological grade, vascular and nerve invasion) features. The complete histological response was defined by Bateman's tumor grade m-RCRG 1 and the absence of lymph node metastases. RESULTS: A complete histological response was observed in 25% of cases (n = 11). In multivariate analysis, age> 60 years (OR: 1.14 and p = 0.028), male sex (OR: 21 and p = 0.045) and radiological wall invasion exceeding the subserosa (OR: 11 , 5 and p = 0.008) were significantly associated with the histological response. In contrast, none of the 3 histological factors tested were correlated with this response's intensity. CONCLUSION: Age, gender, and pre-therapeutic parietal invasion could be used to select "good" and "poor" responders to neo-adjuvant treatment in locally advanced rectal cancers.

Chronic gastritis classifications.

Chronic gastritis are inflammatory diseases of the gastric mucosa whose diagnosis depends on  pathological examination. They are frequent and cover a significant part of the daily activity of pathologists. Their origin is often infectious, particularly by Helicobacter Pylori. Several classifications of chronic gastritis were proposed but in order to achieve standardization in the drafting of pathological reports of gastric biopsies, pathologists currently following the recommendations of the revisted Sydney System. OLGA (Operative Link for Gastritis Assessment) and OLGIM (Operative Link for Gastritis Intestinal metaplasia Assessment) stages are increasingly used since they allow the clinicians to select patients with « high risk ¼ chronic gastritis, which require special monitoring. The aim of this paper was to perform a review of the different classifications of chronic gastritis currently available to pathologists.

Autoimmune gastritis: assessment of OLGA and OLGIM staging systems.

BACKGROUND: Autoimmune gastritis present a risk of cancer related to atrophy and intestinal metaplasia. Two recent classifications OLGA (Operative Link on Gastritis Assessment) and OLGIM (Operative Link on Gastritic Intestinal Metaplasia assessment) have been proposed to reveal the high progressive risk forms (stages III and IV). AIM: To evaluate the OLGA and OLGIM staging systems in chronic autoimmune gastritis. METHODS: A descriptive single institution study of 30 cases of autoimmune gastritis. was performed over a 4-year period. The revaluation of atrophy and intestinal metaplasia, of gastric antrum and corpus, allowed to identify respectively the stages of OLGA and OLGIM systems. RESULTS: Our autoimmune gastritis were at high-risk stages in 26,5% of cases  according to two classifications. 95% of low-risk gastritis acoording to OLGA staging presented moderete to severe corpus atrophy. A significant association was present between high-risk gastritis according to OLGA staging and neuroendocrine hyperplasia. Both OLGA and OLGIM systems showed a highly significant positive correlation between them with a mismatch at 2%. CONCLUSIONS: The OLGA and OLGIM staging systems in autoimmune gastritis, allow probably selection of high risk forms of chronic gastritis requiring convenable care.

Pathological response of colorectal liver metastases treated after induction treatment.

BACKGROUND: Mortality for colorectal cancer is mainly due to liver metastases, surgical resection remains the curative treatment and use of neoadjuvant therapy improves resectability of metastases. Pathological response is an important prognostic factor. AIM: To evaluate tumor response by Tumor regression grade (TRG) according Rubbia-Brandt et al and correlation with survival. To establish chemotherapy-related liver injury. METHODS: Thrity-eight patients resected for colorectal cancer liver metastases after neoadjuvant chemotherapy were enrolled in this study. Tumor regression grade (TRG) according to Gradding Rubbia-Brandt et al. was evaluated. RESULTS: Sex ratio was 1.5 with an average age of was 55 years. Twenty-five patients were in stage IV (65.7% of patients with synchronous liver metastases). Overall survival was 62% at 12 months, 42% at 24 months and 21% at 36 months. Thirty-four patients (89.5%) received Oxaliplatin and nine (23.7%) irinotecan. Twenty patients (52.6%) had no histologic response (TRG 4 and 5), nine (23.7%) had a major response (TRG 1 and 2) and nine had a partial response (TRG3). Survival was more important with major pathologic response than with partial response or no response. No statistically significant relation was found between survival and the different types of response. Chemotherapy-related liver injury were present in 21 patients (55.2%).  Conclusions: Scoring system with three grades are currently recommanded to evaluate pathological response and new histopathological data are proposed. Larger studies are required to validate these items and their utility for therapeutic decisions.

Fetoplacental malformations and abnormalities. A retrospective analysis of 398 cases.

BACKGROUND: The fetoplacental examination is actually very important and sometimes necessary to confirm or correct prenatal diagnosis. AIM: to deduce a list of indications of fetoplacental examination and to determine the type and frequency of malformations found. METHODS: a retrospective study including 398 consecutive fetoplacental examinations, including abortions, stillbirths and children died perinatally. The cases were referred in the department of pathology of the M. Slim Hospital (North Tunis) from 1992 and 2012. RESULTS: The mean maternal age was 32,58 years. The average gravidity was 2,65 and the average rate was 1,48. Maternal conditions were dominated by preeclampsia. The main indication motivating the request for fetoplacental examination was a spontaneous abortion in 45,73% of cases. The rate of stillbirths was 15,61% and that of children who died in the perinatal period was 13,28%. The sex ratio was 1,4 and the medium term was 19,38 SA. 170 fetuses had abnormalities (43,14%). The most frequent abnormalities were chromosomal aberrations (27,64%), followed by facial abnormalities (25,88%) and central nervous system abnormalities (18,82%). We examined 283 placentas, 49% of them contained abnormalities. Ischemic lesions were the main placental abnormalities (41%). CONCLUSIONS:   An efficient fetopathological examination should be as complete as possible, including examination of placenta. Everything must be integrated into a data collection and complete clinical information.

[Helicobacter pylori gastritis: assessment of OLGA and OLGIM staging systems]. / Gastrites chroniques à hélicobacter pylori: évaluation des systèmes OLGA et OLGIM.

Helicobacter pylori (H pylori) gastritis presents a risk of cancer related to atrophy and intestinal metaplasia. Two recent classifications OLGA (Operative Link on Gastritis Assessment) and OLGIM (Operative Link on Gastritic Intestinal Metaplasia assessment) have been proposed to identify high-risk forms (stages III and IV). The aim of this study is to evaluate the OLGA and OLGIM staging systems in H pylori gastritis. A descriptive study of 100 cases of chronic H pylori gastritis was performed. The revaluation of Sydney System parameters of atrophy and intestinal metaplasia, of gastric antrum and corpus, allowed identifying respectively the stages of OLGA and OLGIM systems. The progressive risk of our H pylori gastritis was 6% according to OLGA staging and 7% according to OLGIM staging. Significant correlation was revealed between age and OLGA staging. High-risk gastritis according to OLGIM staging was significantly associated with moderate to severe atrophy. High-risk forms according to OLGA staging were associated in 80% of the cases to intestinal metaplasia. OLGA and OLGIM systems showed a highly significant positive correlation between them with a mismatch at 5% for H pylori gastritis. The OLGA and OLGIM staging systems in addition to Sydney System, allow selection of high risk forms of chronic gastritis requiring accurate observation.

Incidental gallbladder cancer diagnosed on cholecystectomy specimens: a study of 30 cases.

Background - The gallbladder cancer is a rare cancer with poor prognosis. The association with gallstone disease is the main risk factor of this cancer. Aim - Describe the demographics, clinic-pathologic and therapeutic management of incidentally gallbladder cancer diagnosed on cholecystectomy specimens. Methods - retrospective study including 30 cases of gallbladder cancer incidentally detected on cholecystectomy specimens. Results - The incidence of gallbladder cancer incidentally discovered was 0.83%. The sex ratio M/F was 0.5 and the average age was 68 years. The main risk factor was cholelithiasis (38%). Adenocarcinoma was the most frequent histological type found in 86.6% of cases and it was biliary-type in 56.6% of cases. 76,7% of the tumors were classified in early stages (stages 0, I and II) and 23,3% were in advanced stages (III and IV). A simple cholecystectomy was curative in 66.7% of cases. Overall survival rate was 56.7% at one year. The best survival rate was for the early stages: 100% stages 0-I and 45.4% stage II. Conclusions - The gallbladder cancer has poor prognosis because of its late diagnosis. Thorough sampling and careful attention on histological examination of all parts of cholecystectomy specimens allows detection of early cancer with better prognosis.

Chondroid syringoma: report of four cases.

Chondroid syringomas or mixed tumors of the skin are relatively rare adnexal tumors constituting 0.01% to 0.1% of all primary skin tumors. The majority of chondroid syringomas occur at the head and neck region (80%). Their clinical presentation is not specific and the final diagnosis is based on histopathologic examination. The authors report four cases of benign chondroid syringoma in three women and one man aged 26, 45, 50, and 38 years, respectively. They presented with a slow-growing, painless and firm subcutaneous nodule measuring between 1 and 3 cm involving the lower eyelid, the nasogenien groove, the nose, and the chin, respectively. All patients underwent uneventful surgical excision of the nodules. Histologic examination of the surgical specimen was compatible with benign chondroid syringoma in all cases. Chondroid syringomas must be considered in the differential diagnosis of any small subcutaneous nodule in the head and neck region in middle-aged patients. The treatment of choice is total excision, with wide disease-free margins, to rule out malignancy and reduce the risk of recurrence and malignancy in the future.

[Review of 32 gastro-intestinal stromal tumours with CD117 antigen]. / Revision de 32 tumeurs mesenchymateuses gastro-intestinales avec le CD117.

AIM: The aim of this study is to review clinical data, histological and immunohistochemical findings and prognosis of stromal gastrointestinal tumors. METHODS: A retrospective Study of 32 cases of stromal gastrointestinal tumors diagnosed in the Department of Pathology of Mongi Slim Hospital of Tunis from 1991 to 2004. RESULTS: The average age of the patients was of 54.4 years, equal for sex. Tumors were essentially gastric (50%) and of the small intestine (37.5%). All the patients had surgical treatment. Gastro-intestinal Stromal Tumors or GIST represent the most frequent stromal tumor with 56.2% of cases. CONCLUSION: After immunohistochimestry study, using CD117 antigen, this revision allows better management of GIST. Glivec is the standard treatment of advanced GIST.