Molecular and phenotypic profiling of colorectal cancer patients in West Africa reveals biological insights.

Understanding the molecular and phenotypic profile of colorectal cancer (CRC) in West Africa is vital to addressing the regions rising burden of disease. Tissue from unselected Nigerian patients was analyzed with a multigene, next-generation sequencing assay. The rate of microsatellite instability is significantly higher among Nigerian CRC patients (28.1%) than patients from The Cancer Genome Atlas (TCGA, 14.2%) and Memorial Sloan Kettering Cancer Center (MSKCC, 8.5%, P < 0.001). In microsatellite-stable cases, tumors from Nigerian patients are less likely to have APC mutations (39.1% vs. 76.0% MSKCC P < 0.001) and WNT pathway alterations (47.8% vs. 81.9% MSKCC, P < 0.001); whereas RAS pathway alteration is more prevalent (76.1% vs. 59.6%, P = 0.03). Nigerian CRC patients are also younger and more likely to present with rectal disease (50.8% vs. 33.7% MSKCC, P < 0.001). The findings suggest a unique biology of CRC in Nigeria, which emphasizes the need for regional data to guide diagnostic and treatment approaches for patients in West Africa.

Analysis of Presentations and Outcomes of Care of Children with Disorders of Sexual Development in a Nigerian Hospital.

STUDY OBJECTIVE: To describe the presentation, diagnosis, management, and short-term outcome of children with disorders of sexual development (DSD) in the context of multidisciplinary team care. DESIGN: Prospective descriptive study. SETTING: University Teaching Hospital. PARTICIPANTS: All children who presented with genital ambiguity. INTERVENTIONS AND MAIN OUTCOME MEASURES: Records of all patients diagnosed and managed for DSD between January 2011 and December 2016 were reviewed. The care pathway included clinical, laboratory, internal genitalia evaluation, and panel (including parents) meeting. RESULTS: Fifteen children presented with DSD at a median age of 20 months. Only 5/15 (33.3%) presented in the neonatal period. Ten of fifteen patients (66.7%) presented with genital ambiguity. Ovotesticular DSD was the most common diagnosis (9/15; 60%). Seven of the patients were genetically female (46, XX), 1 was genetically male (46, XY) and 1 without genetic diagnosis. Six patients were assigned male gender and they underwent male genitoplasty. Five of them had excision of Müllerian structures with gonadectomy. Three of fifteen patients (20%) were diagnosed as 46, XX DSD, at a median age of 7 years. All of them were due to congenital adrenal hyperplasia and underwent female genitoplasty. Two patients were diagnosed as XY, DSD. They were both raised as female at presentation and were reassigned male sex. Both had urethroplasty done. Four patients had postoperative urethrocutaneous fistula and 1 had partial wound dehiscence. The median follow-up period was 21 months (interquartile range, 2-26 months). CONCLUSION: The frequency of ovotesticular DSD is high in our setting. The decision of sex assignment was finally made at a median age of 7.5 months in most of our patients with satisfactory short-term surgical outcome.

Bilateral femoral artery aneurysm mimicking soft tissue sarcoma.

Despite the rarity of femoral aneurysm and the plethora of other causes of swelling in and around its anatomic location, the possibility of its existence must always be borne in mind. A rare case of metachronously bilateral femoral aneurysms mimicking soft tissue sarcoma in a young Nigerian man is presented. Caution in the diagnosis of groin masses is hereby re-emphasized.