A rare case of gastric metastasis originating from primary lung adenocarcinoma: a case report.

Unlike liver and lung, the stomach is rarely a metastatic location for cancers. We report a case of a 62-year-old man known to have lung adenocarcinoma poorly differentiated presented with melena 1 month after diagnosis. Upper endoscopy revealed an ulcerated tumor in the prepyloric antrum. The diagnosis of gastric metastasis from pulmonary cancer was confirmed by the immunohistochemical staining for the thyroid transcriptional factor-1 and the pattern cytokeratine CK7+/CK20-. In conclusion, gastric metastasis from primary lung cancer is a rare phenomenon that every clinician must keep in mind.

A 62-year-old man known to have lung adenocarcinoma poorly differentiated presented with melena 1 month after diagnosis. Upper endoscopy revealed an ulcerated tumor in the prepyloric antrum. The diagnosis of gastric metastasis from pulmonary cancer was confirmed by histology.

Synchronous primary gastric and renal tumors: a case report.

Synchronous multiple primary cancers of the stomach and kidney are very rare, only 45 cases of synchronous multiple primary cancers of the stomach and kidney had been reported in the literature up until 2020. Thus far, no particular risk factors have been identified. We present a case of synchronous multiple primary cancers of the stomach and kidney in a 67-year-old female presenting with a 3-month history of vomiting and abdominal pain. The diagnosis of gastric adenocarcinoma with signet ring cells was confirmed through upper endoscopy with biopsies, while CT-guided biopsies of the renal tumor confirmed the diagnosis of primary kidney neoplasm.

Having more than one cancer at the same time is known as multiple primary malignancies. Having cancers in both the stomach and kidney at the same time is even rarer, with only 45 cases reported in literature. The exact causes of such cancers occurring together are not yet known. We present a 67-year-old woman who was diagnosed with synchronous multiple primary cancers of the stomach and kidney. She presented with vomiting and abdominal pain. The diagnosis of gastric cancer was confirmed through upper endoscopy with biopsies, while biopsies of the renal tumor confirmed the diagnosis of primary kidney cancer.

Multifocal nodular lesions in fatty liver mimicking neoplastic disease: a case report.

Usually, fatty hepatic infiltration is diffuse and homogeneous. However, in some cases, it can be localized simulating benign or malignant tumors. We present a case of a 61-year-old female patient with family history of malignancy: sister with lung cancer, an other sister with colon cancer and a mother with breast cancer; who presented with multiple hepatic nodules at the ultrasonography images. CT scan and MRI were not sufficient to pose a certain diagnosis which was later confirmed by liver biopsy.

In some cases, fatty hepatic infiltration may simulate benign or malignant tumors. We present a case of a 61-year-old female patient with family history of malignancy who presented with multiple hepatic nodules at the ultrasonography images. CT scan and MRI were not sufficient to pose a certain diagnosis which was later confirmed by liver biopsy.

Performance of the ADRESS-HCC score in the assessment of the risk of hepatocellular carcinoma in viral cirrhosis in Tunisia.

INTRODUCTION: The ADRESS-HCC score allows predicting the risk of occurrence of Hepatocellular carcinoma in cirrhosis at one year of follow-up. AIM: Measuring the performance of ADRESS-HCC in predicting the risk of degeneration on post-viral cirrhosis, in a gastroenterology department in Tunisia. METHODS: Retrospective study, including patients followed for compensated viral cirrhosis in the gastroenterology department of the Mohamed Taher Maamouri hospital. The ADRESS-HCC score was calculated at diagnosis of cirrhosis. We divided patients into two groups depending on whether they developed Hepatocellular carcinoma or not. We evaluated the performance of the ADRESS-HCC score in predicting the risk of Hepatocellular carcinoma according to a threshold value. RESULTS: We enrolled 60 patients; the mean age was 62 years. Twenty-five patients developed hepatocellular carcinoma during follow-up. The mean value of ADRESS-HCC score was 5.08. To predict the occurrence of hepatocellular carcinoma at 1 year of follow-up, the area under the curve of the ADRESS-HCC score was 0.74 (p=0.01). For a threshold value of 5.63 its sensitivity was 91 % with a negative predictive value of 95.83%. CONCLUSION: The ADRESS-HCC score had an average performance in predicting degeneration in post-viral cirrhosis.

Osteopetrosis: a rare case of portal hypertension.

Osteopetrosis is a rare genetic bone disorder characterized by a defect in osteoclasts recruitment and function. Its manifestations are numerous and they mainly include skeletal and dental deformities, cranial nerve entrapment and infections. Over time, osteoclastic expansion invades bone marrow leaving little space for hematopoietic cells. As a result, extramedullary hematopoiesis takes place in the reticular system mainly in the spleen and liver. In these patients, portal hypertension can occur as a result of extramedullary hematopoiesis associated splenomegaly. We are reporting in this article a rare case of spontaneous bacterial peritonitis associated with portal hypertension in a patient with osteopetrosis.

A case of gastric metastasis originating from right-sided colon cancer 4 years after colectomy.

The stomach is rarely a metastatic site of other primary cancers. Gastric metastasis from colonic cancer is exceptional. We hereby report a case of a 54-year-old male patient who underwent a right hemicolectomy for right-sided colon cancer. The pathology exam revealed well differentiated adenocarcinoma, it was classified stage IIb. Regular controls performed including colonoscopy were normal. Four years after colectomy, the patient was admitted for hematemesis with epigastric pain with detoriation of general condition . Gastroscopy revealed a large ulceroproliferative mass in the antropyloric region. Histology showed that this tumor was an adenocarcinoma similar to the primary right colon cancer, which led to the diagnosis of metastatic gastric cancer originating from colon cancer.

Spleen metastases secondary to gastric neuroendocrine carcinoma: case report.

Neuroendocrine carcinoma (NEC) in the stomach represents a rare and rapidly growing type of gastric tumors. They are considered a distinct entity of neuroendocrine tumors characterized by an aggressive behavior and high metastases rate. On the other hand, spleen metastases of neuroendocrine tumors are extremely rare. We report the first case of spleen metastases of gastric neuroendocrine carcinoma. The patient was a 54-year-old male who presented with a 10-month history of epigastralgia. Upper gastro-intestinal endoscopy revealed a 5 cm ulcerative lesion located in the greater gastric curvature. Biopsies with immunohistochemical staining revealed gastric neuroendocrine carcinoma. Abdominal computed tomography showed thickening of the stomach with two large solid spleen lesions. Abdominal Magnetic Resonance Imaging and 18-fluorodexyglucose positron-emission tomography revealed peritoneal carcinosis and splenic metastases with splenic vein invasion. Clinicians should keep in mind that splenic metastases can arise from gastric neuroendocrine tumors (NETs).

A Rare MSH2 Variant as a Candidate Marker for Lynch Syndrome II Screening in Tunisia: A Case of Diffuse Gastric Carcinoma.

Several syndromic forms of digestive cancers are known to predispose to early-onset gastric tumors such as Hereditary Diffuse Gastric Cancer (HDGC) and Lynch Syndrome (LS). LSII is an extracolonic cancer syndrome characterized by a tumor spectrum including gastric cancer (GC). In the current work, our main aim was to identify the mutational spectrum underlying the genetic predisposition to diffuse gastric tumors occurring in a Tunisian family suspected of both HDGC and LS II syndromes. We selected the index case "JI-021", which was a woman diagnosed with a Diffuse Gastric Carcinoma and fulfilling the international guidelines for both HDGC and LSII syndromes. For DNA repair, a custom panel targeting 87 candidate genes recovering the four DNA repair pathways was used. Structural bioinformatics analysis was conducted to predict the effect of the revealed variants on the functional properties of the proteins. DNA repair genes panel screening identified two variants: a rare MSH2 c.728G>A classified as a variant with uncertain significance (VUS) and a novel FANCD2 variant c.1879G>T. The structural prediction model of the MSH2 variant and electrostatic potential calculation showed for the first time that MSH2 c.728G>A is likely pathogenic and is involved in the MSH2-MLH1 complex stability. It appears to affect the MSH2-MLH1 complex as well as DNA-complex stability. The c.1879G>T FANCD2 variant was predicted to destabilize the protein structure. Our results showed that the MSH2 p.R243Q variant is likely pathogenic and is involved in the MSH2-MLH1 complex stability, and molecular modeling analysis highlights a putative impact on the binding with MLH1 by disrupting the electrostatic potential, suggesting the revision of its status from VUS to likely pathogenic. This variant seems to be a shared variant in the Mediterranean region. These findings emphasize the importance of testing DNA repair genes for patients diagnosed with diffuse GC with suspicion of LSII and colorectal cancer allowing better clinical surveillance for more personalized medicine.

Esophageal tuberculosis as an unusual cause of dysphagia: a case report.

Esophageal tuberculosis is a rare cause of infectious esophagitis, even in countries with endemic tuberculosis. This impairment is often secondary. We report a case of secondary esophageal tuberculosis in an immunocompetent patient, clinically revealed by dysphagia. Esophagogastroduodenoscopy showed a large ulcer in the middle third of the esophagus with a fistula opening in the center of the ulcer. Histopathological examination of multiple esophageal tissue biopsies revealed epithelioid cell granulomas without caseous necrosis. We completed with Computed Tomography (CT) scan of the chest which revealed a fistula of the middle third of the esophagus, multiple mediastinal necrotic adenopathies and diffuse pulmonary micronodules suggesting miliary tuberculosis. Sputum examination for acid-fast-bacilli was positive. Anti-tuberculosis treatment resulted in a good response with complete remission. It is therefore important to recognize and include this entity in the differential diagnosis of patients with dysphagia particularly in countries with a high incidence of tuberculosis.

Jejunal diverticulitis as a rare cause of abdominal pain: a case report.

Jejunal diverticulitis is an uncommon and underdiagnosed condition. Due to the rarity of This disease, diagnosis is often difficult and delayed. Medical treatment is usually sufficient for jejunal diverticulitis without peritonitis. Surgery is required in case of generalized peritonitis or voluminous abscess complicating diverticulitis. We report the case of a 76-year-old woman who suffered from recent abdominal pain. Diagnosis of uncomplicated jejunal diverticulitis was based on computed tomography (CT) scan. The evolution was favorable after antibiotic treatment. Jejunal diverticulitis have to be evoked among the differential diagnosis of patients with abdominal pain especially in the elderly and it is important for clinicians and radiologists to have awareness about this disease.

Solitary gastric Peutz-Jeghers polyp: a case report.

Peutz-Jeghers syndrome is an inherited condition that is characterized by mucocutaneous pigmentation and hamartomatous polyposis in the gastrointestinal tract. It increases significantly the risk for developing of several cancers such as breast, colon, rectum, pancreas and stomach. Solitary Peutz-Jeghers polyp is defined as a unique hamartomatous polyp having the same histological features as Peutz-Jeghers syndrome polyps without associated intestinal polyposis, mucocutaneous pigmentation and family history of Peutz-Jeghers syndrome. Gastric solitary Peutz-Jeghers polyp is extremely rare. We found only 13 cases in the literature. We report a new case of solitary gastric Peutz-Jeghers polyp associated with a branch duct intraductal papillary mucinous neoplasm revealed by an acute pancreatitis. Computed tomography of the abdomen found a branch duct intraductal papillary mucinous neoplasm with a pedicled polypoid formation in the greater gastric curvature. Endoscopic resection was performed without complications. Histologic examination showed Peutz-Jeghers hamartomatous polyp. The risk of cancer remains unclear in this entity. Therefore, the follow-up of these patients is necessary because of the possible risk of malignancy.

CDH1 Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma.

Mutational screening of the CDH1 gene is a standard treatment for patients who fulfill Hereditary Diffuse Gastric Cancer (HDGC) testing criteria. In this framework, the classification of variants found in this gene is a crucial step for the clinical management of patients at high risk for HDGC. The aim of our study was to identify CDH1 as well as CTNNA1 mutational profiles predisposing to HDGC in Tunisia. Thirty-four cases were included for this purpose. We performed Sanger sequencing for the entire coding region of both genes and MLPA (Multiplex Ligation Probe Amplification) assays to investigate large rearrangements of the CDH1 gene. As a result, three cases, all with the HDGC inclusion criteria (8.82% of the entire cohort), carried pathogenic and likely pathogenic variants of the CDH1 gene. These variants involve a novel splicing alteration, a missense c.2281G > A detected by Sanger sequencing, and a large rearrangement detected by MLPA. No pathogenic CTNNA1 variants were found. The large rearrangement is clearly pathogenic, implicating a large deletion of two exons. The novel splicing variant creates a cryptic site. The missense variant is a VUS (Variant with Uncertain Significance). With ACMG (American College of Medical Genetics and Genomics) classification and the evidence available, we thus suggest a revision of its status to likely pathogenic. Further functional studies or cosegregation analysis should be performed to confirm its pathogenicity. In addition, molecular exploration will be needed to understand the etiology of the other CDH1- and CTNNA1-negative cases fulfilling the HDGC inclusion criteria.

Colonic tuberculosis: a case report.

Aim: Colonic tuberculosis is rare. It accounts for 2-3% of abdominal tuberculosis. Clinical, radiological and endoscopic features are nonspecific. The diagnosis must be considered in front of chronic abdominal pain, vesperal fever and weight loss with on colonoscopy the presence of nodules or ulcers. The diagnosis is made on pathological findings. Case report: We report a case of an 82-year-old female patient with the diagnosis of colonic tuberculosis. The diagnosis were suspected on clinical presentation: chronic abdominal pain, fever and weight loss. The colonoscopy showed a nodular aspect of the left and sigmoid colonic mucosa and the pathology examination of the multiple biopsy specimens showed an epithelioid and gigantocellular granulomas with caseous necrosis. Conclusion: In front of a nonspecific clinical and endoscopic aspects, multiples colonic biopsies are mandatory to rule out differential diagnosis and confirm colonic tuberculosis.

Clinical and radiological features of colonic tuberculosis are nonspecific. The diagnosis must be considered in case of abdominal chronic pain and general symptoms. The mainly differential diagnosis are colorectal cancer or Crohn's disease. We report a case of an 82-year-old female patient with the diagnosis of colonic tuberculosis.

Abdominal unicentric Castleman's disease: a case report.

Castleman's disease is a rare disease characterized by benign lymphoepithelial proliferation. There are two forms: unicentric and multicentric Castleman's disease. Mediastinal location is the most frequent. Intra-abdominal Castleman's disease is a rare presentation. We report a case of 65-year-old female who presented with epigastric pain. Investigations revealed a retroperitoneal mass which was surgically resected. Histopathological examination showed hyaline-vascular type Castleman's disease. In conclusion, Castelman´s disease is a diagnostic challenge and it must be included in the differential diagnosis of retroperitoneal tumors.

Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins.

BACKGROUND: Lynch syndrome (LS) is a highly penetrant inherited cancer predisposition syndrome, characterized by autosomal dominant inheritance and germline mutations in DNA mismatch repair genes. Despite several genetic variations that have been identified in various populations, the penetrance is highly variable and the reasons for this have not been fully elucidated. This study investigates whether, besides pathogenic mutations, environment and low penetrance genetic risk factors may result in phenotype modification in a Tunisian LS family. PATIENTS AND METHODS: A Tunisian family with strong colorectal cancer (CRC) history that fulfill the Amsterdam I criteria for the diagnosis of Lynch syndrome was proposed for oncogenetic counseling. The index case was a man, diagnosed at the age of 33 years with CRC. He has a monozygotic twin diagnosed at the age of 35 years with crohn disease. Forty-seven years-old was the onset age of his paternal uncle withCRC. An immunohistochemical (IHC) labeling for the four proteins (MLH1, MSH2, MSH6 and PMS2) of the MisMatchRepair (MMR) system was performed for the index case. A targeted sequencing of MSH2, MLH1 and a panel of 85 DNA repair genes was performed for the index case and for his unaffected father. RESULTS: The IHC results showed a loss of MSH2 but not MLH1, MSH6 and PMS2 proteins expression. Genomic DNA screening, by targeted DNA repair genes sequencing, revealed an MSH2 pathogenic mutation (c.1552C>T; p.Q518X), confirmed by Sanger sequencing. This mutation was suspected to be a causal mutation associated to the loss of MSH2 expression and it was found in first and second degree relatives. The index case has smoking and alcohol consumption habits. Moreover, he harbors extensive genetic variations in other DNA-repair genes not shared with his unaffected father. CONCLUSION: In our investigated Tunisian family, we confirmed the LS by IHC, molecular and in silico investigations. We identified a novel pathogenic mutation described for the first time in Tunisia. These results come enriching the previously reported pathogenic mutations in LS families. Our study brings new arguments to the interpretation of MMR expression pattern and highlights new risk modifiers genes eventually implicated in CRC. Twins discordance reported in this work underscore that disease penetrance could be influenced by both genetic background and environmental factors.

Gastrointestinal stromal tumours (GISTs): A descriptive study on 29 cases.

BACKGROUND AND STUDY AIM: Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal tumours of the gastrointestinal tract, originating from Cajal cells in different sites of the digestive tract. The aim of the study is to report on epidemiological, clinical, histological, and therapeutic characteristics of GISTs. PATIENTS AND METHODS: A retrospective descriptive study of 29 cases of GIST in gastroenterology and general surgery departments of Mohamed Tahar Maamouri Hospital (Nabeul, Tunisia) was conducted from January 2005 to March 2012. RESULTS: Among the 29 patients, there were 18 males (62%) and 11 females (38%) with a median age of 63 years (range, 30-96years). The main symptoms were abdominal pain (40%) and weight loss (28%). The tumour was revealed by a complication in 5 cases (17%). Six patients (20.7%) had metastatic lesions. The most common sites were the stomach (41.4%) and the small intestine (17.3%). The median tumour size was 9.5cm (range, 1-30cm). Spindle cell tumours were the main histological type (62%). KIT was positive in the majority of cases (75%). Twenty-one patients with primary disease (72%) underwent a surgical resection. Imatinib was prescribed in 7 patients (24%). Sunitinib malate was indicated in 3 patients who had tumour progression under imatinib. Median survival was 17 months (range, 1-69months). Ten patients died. CONCLUSION: The management of GISTs has considerably evolved during the last years. Surgical resection, which remains the mainstay of treatment, was indicated in the majority of patients. Imatinib treatment has not improved overall survival in metastatic and/or inoperable cases.

Hepatitis B virus and hepatitis C virus co-infection: a therapeutic challenge.

Hepatitis B virus and hepatitis C virus are the two most common causes of chronic liver disease in the world. Dual infection with hepatitis B virus and hepatitis C virus, whose prevalence is underestimated, is characterized by a more severe liver injury, a higher probability of liver cirrhosis and a higher incidence of hepatocellular carcinoma. Treatment of these patients represents a therapeutic challenge. We report the case of an hepatitis B virus-hepatitis C virus co-infected patient, which particularly illustrates the interactions between these two viruses and therapeutic problems caused by the dual infection. HCV was initially dominant, which indicated a combination therapy by pegylated interferon and ribavirin. This treatment was associated with an early virological response of the HCV but an increase of HBV DNA occurred, requiring the use of a nucleoside analogue. A good response was obtained for the HBV but a relapse of HCV was noted, posing a problem for therapeutic decision.