Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country.

Molecular pathology services for colorectal cancer (CRC) in Sudan represent a significant unmet clinical need. In a retrospective cohort study involving 50 patients diagnosed with CRC at three major medical settings in Sudan, we aimed to outline the introduction of a molecular genetic service for CRC in Sudan, and to explore the CRC molecular features and their relationship to patient survival and clinicopathological characteristics. Mismatch repair (MMR) and BRAF (V600E) mutation status were determined by immunohistochemistry. A mismatch repair deficient (dMMR) subtype was demonstrated in 16% of cases, and a presumptive Lynch Syndrome (LS) diagnosis was made in up to 14% of patients. dMMR CRC in Sudan is characterized by younger age at diagnosis and a higher incidence of right-sided tumours. We report a high mortality in Sudanese CRC patients, which correlates with advanced disease stage, and MMR status. Routine MMR immunohistochemistry (with sequential BRAF mutation analysis) is a feasible CRC prognostic and predictive molecular biomarker, as well as a screening tool for LS in low-middle-income countries (LMICs).

Pulmonary Mucormycosis: A Case Report of a Rare Infection with Potential Diagnostic Problems.

Pulmonary mucormycosis is a relatively rare pulmonary fungal disease, which is difficult to diagnose early and lacks effective treatment. It is seen in patients with hematological malignancies, diabetes mellitus, and immunocompromised states. The diagnosis depends primarily on the detection of fungi in lung tissue. Here, we present a case of a 52-year-old male who has type 2 diabetes mellitus and a past history of treated pulmonary tuberculosis. Clinical diagnosis is difficult in pulmonary mucormycosis, and early diagnosis is needed for this life-threatening infection. Histopathological examination of a resected cavity confirmed the diagnosis of pulmonary mucormycosis. This report highlights the difficulty of diagnosis and the importance of histological examination in detecting mucormycosis which will help for early management.

Primary Hepatic Lymphoma Presenting as an Acute Abdomen in a Young Female Patient: A Case Report and Literature Review.

We report a rare case of primary hepatic lymphoma (PHL) in a hepatitis B virus- (HBV-) infected young female patient who presented with right upper abdominal pain, nausea, and vomiting for a few days. The preoperative diagnosis was difficult due to the rarity of the disease and the presence of a solitary hypodense mass in the left lobe of the liver on contrast-enhanced computed tomography (CT) scan with a normal alpha-fetoprotein (AFP) and negative cytology. She underwent an uneventful extended left hemihepatectomy, and the surgical biopsy revealed a PHL-of diffuse large B-cell lymphoma (DLBCL) type-with negative resection margins. She received adjuvant combination chemotherapy and remained disease-free with normal serial radiology over a 2-year follow-up period.

Granular cell tumor of the gallbladder: case report and review of the literature.

BACKGROUND: Granular cell tumors (GCTs) are rare benign tumors, which originate in the tongue, ovary, oropharynx, GIT and respiratory tract. Biliary GCTs are rarities. Clinical presentations depend on tumor site. CASE REPORT: A 62-year-old male, presented with acute and severe abdominal pain for fifteen days. He was in pain, not pale or jaundiced. Abdominal imaging showed thick-walled gallbladder with multiple stones suggestive of calcular cholecystitis and liver cirrhosis. The diagnosis of acute-on-chronic cholecystitis was made. Following informed consent open cholecystectomy showed a cirrhotic liver with enlarged Calot's lymph node and thick adhesions. Histopathology revealed a benign GCT of the gallbladder. The patient recovered uneventfully. The patient was well with no tumor recurrence after one year follow up. CONCLUSION: GCT of the gallbladder should be considered in patients presenting as acute-on-chronic cholecystitis without imaging evidence of tumor. Surgical removal with wide safety margins should be contemplated.

Basal-like phenotype in a breast carcinoma case series from Sudan: prevalence and clinical/pathological correlations.

Basal-like breast cancer, an aggressive subtype associated with high grade, poor prognosis, and younger age, is reported frequently in Africa. We analyzed the expression of the basal cytokeratins (CKs) 5/6 and 17 in a case series from Central Sudan and investigated correlations among basal CK status, ER, PgR, and Her-2/neu, and individual/clinicopathological data. Of 113 primary breast cancers 26 (23%), 38 (34%), and 46 (41%) were, respectively, positive for CK5/6, CK17, and combined basal CKs (CK5/6 and/or CK17). Combined basal CK+ status was associated with higher grade (P < .03) and inversely correlated with ER (P < .002), PgR (P = .004) and combined ER and/or PgR (P < .0002). Two clusters based on all tested markers were generated by hierarchical cluster analysis and k-mean clustering: I: designated "hormone receptors positive/luminal-like" and II: designated "hormone receptors negative", including both basal-like and Her-2/neu+ tumors. The most important factors for dataset variance were ER status, followed by PgR, CK17, and CK5/6 statuses. Overall basal CKs were expressed in a fraction of cases comparable to that reported for East and West African case series. Lack of associations with age and tumor size may represent a special feature of basal-like breast cancer in Sudan.

Colorectal carcinoma associated with schistosomiasis: a possible causal relationship.

The association between schistosomiasis and colorectal malignancy has long been suggested in the literature, but it is not uniformly accepted. In the Far East, considerable evidence supports an etiological link between Schistosoma japonicum and colorectal cancer. However, the available data regarding the role of Schistosoma mansoni in colorectal carcinogenesis are conflicting and most often do not show causality. We report on a patient with sigmoid colonic cancer coexisting with schistosomiasis, and we provide a comprehensive review of the literature regarding the epidemiology and pathobiology of this association.

Pattern of glomerular diseases in Sudanese children: a clinico-pathological study.

Glomerular diseases are a common cause of chronic kidney disease (CKD) in many countries. The pattern of glomerular diseases has been reported in adult Sudanese patients but there has been no previous study on Sudanese children. The aim of this study is to describe the pattern of glomerular diseases in Sudanese children from a clinico-pathological perspective. We retrospectively reviewed the clinical records of 321 children seen with nephritis/nephrosis at the Pediatric Nephrology Unit, Soba University Hospital and Dr. Salma Dialysis and Kidney Transplantation Centre, Khartoum, Sudan during the period from 2002 to 2007. Biopsies were studied with light microscopy and immuno-histochemistry with electron microscopy performed abroad in selected patients (predominantly Alport's). The mean age of the 321 study children was 8.71 years (range 2 months-16 yrs) of whom, 188 were males (60.2%). The most common presentation was with the nephrotic syndrome, seen in 202 patients (62.9%). The most common glomerular disease encountered was minimal change disease, seen in 96 children (29.9%), followed by post-infectious GN in 78 (24.3%) and focal and segmental glomerulosclerosis, seen in 44 patients (13.7%). Membranoproliferative GN (MPGN) was seen in 43 patients (13.4%) while mesangioproliferative GN was seen in 24 (7.5%). Systemic lupus erythematosus (SLE) was the most common secondary glomerular disease accounting for 16 patients (4.9%). HBsAg was positive in 10 patients and the most common associated lesion was MPGN (60%). Histopathology enabled us to change the therapy in 55.3% of the patients. Our study suggests that the pattern of GN in our cohort of patients is comparable with reports from other parts of the world with a high prevalence of post-infectious GN. Renal biopsies have an important part in planning therapy and management. Also, the importance of establishing a Sudanese renal registry including pediatric patients is stressed.