Clinicopathologic profile of sinonasal diseases in a tertiary hospital in Port Harcourt

Background: In a typical ear nose and throat clinic, disease conditions involving the nose and paranasal sinuses are not uncommon. The aim of this study is to determine the clinicopathologic profile of these diseases as it occurs in university of Port Harcourt teaching hospital. Methodology: A retrospective descriptive analysis of all patients with diagnosis of sinonasal disease that presented in the ear nose and throat surgery department of university of Port Harcourt teaching hospital within the period of 5years (from 2016 – 2020). Data retrieved were biodata, clinical features, diagnosis and treatment, these were all collated and analysed. Patients without complete records were excluded. The patients recruited had clinical diagnosis which was aided by radiological investigations and confirmed by histology. Result: A total of 68 patients were studied within the 5year period. There were 35males and 33 females. The mean age was 33.96+/_17.9 years. The age groups 11-20 and 41-50 were more affected. Rhinosinusitis was the commonest condition seen while inflammatory polyp was the commonest histologic diagnosis. Polypectomy with bilateral antrostomy was the commonly done surgery in 26.4% age. Conclusion: Disease of the nose and paranasal sinuses are commonly seen in ENT practice and rhinosinusitis is the commonest entity encountered with inflammatory polyp as the commonest histopathologic finding. Squamous cell carcinoma was the commonest malignant lesion seen occurring more in males. Age distribution of the diseases was statistically significant.

MLH1/PMS2 Expression Could Tell Classical NTRK Fusion in Fluorescence In Situ Hybridization Positive Colorectal Carcinomas

To gain insight into the clinicopathologic profile of colorectal carcinomas harboring oncogenic NTRK fusions based on eastern populations as well as make the best testing algorithm for the screen, we use pan-Trk immunohistochemistry (IHC), fluorescence in situ hybridization (FISH) respectively to screen NTRK fusions in a large, unselected cohort of 819 colon cancers; either IHC or FISH positive cases were further detected by next-generation sequencing (NGS). IHC staining was observed in ten (1.22%) cases. FISH positive was observed in 13 (1.59%) cases, and finally, a total of 18 cases were under both a DNA-based and an RNA-based NGS assay. RNA-based NGS was positive in 13 of 18 cases, whereas DNA-based NGS was only positive in three of 18 cases. In total 13 RNA-based NGS NTRK fusion-positive cases, only six cases were pan-TRK IHC positive versus 12 were FISH positive. More important, in 13 RNA-based NGS cases only five cases contain the full length of NTRK tyrosine kinase (TK) domain and form the classical fusion chimeras, other six cases only maintain parts of the TK domain and form the sub-classical fusion chimeras, two cases totally miss the TK domain and form the non-classical fusions. For clinicopathologic characteristics, besides the MMR (mismatch repair) status (p = 0.001), there is no difference between the NTRK fusion-positive and negative cases. Nevertheless, classical fusion cases prefer low differentiation (p = 0.001) and different patterns of growth (p < 0.001). Besides, we found all five classical NTRK fusion cases, and only one sub-classical case was harboring MLH1/PMS2 deficiency. When combining FISH and MMR (Mismatch Repair) status, besides one sub-classical case, all five classical fusions were detected, which means MLH1/PMS2 expression could further narrow the classical fusions in FISH NTRK fusion positive cases. Given the low sensitivity and specificity of the pan-Trk antibody, it would be useless to use IHC to screen NTRK fusion-positive CRCs. Combining FISH and MLH1/PMS2 IHC would be a good testing algorithm for the screen effective NTRK fusions. Finally, if patients are going to undergo TRK-based targeted therapy, only RNA-based NGS for detection of the specific fusion could tell the precise rearrangement information.

Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers

The most common breast cancer (BC) susceptibility genes beyond BRCA1/2 are ATM and CHEK2. For the purpose of exploring the clinicopathologic characteristics of BC developed by ATM or CHEK2 mutation carriers, we reviewed the archive of our Family Cancer Clinic. Since 2018, 1185 multi-gene panel tests have been performed. Nineteen ATM and 17 CHEK2 mutation carriers affected by 46 different BCs were identified. A high rate of bilateral tumors was observed in ATM (26.3%) and CHEK2 mutation carriers (41.2%). While 64.3% of CHEK2 tumors were luminal A-like, 56.2% of ATM tumors were luminal B-like/HER2-negative. Moreover, 21.4% of CHEK2-related invasive tumors showed a lobular histotype. About a quarter of all ATM-related BCs and a third of CHEK2 BCs were in situ carcinomas and more than half of ATM and CHEK2-related BCs were diagnosed at stage I-II. Finally, 63.2% of ATM mutation carriers and 64.7% of CHEK2 mutation carriers presented a positive BC family history. The biological and clinical characteristics of ATM and CHEK2-related tumors may help improve diagnosis, prognostication and targeted therapeutic approaches. Contralateral mastectomy should be considered and discussed with ATM and CHEK2 mutation carriers at the first diagnosis of BC.

Clinicopathologic Profile of Gastric Endoscopic Biopsies in Port Harcourt, Nigeria

Background: Histological diagnoses of endoscopic biopsies are keys to improved outcomes of patient management; hence endoscopy and histological evaluation of the associated specimens are agelong practices globally, but this practice is just evolving in Port Harcourt. Aim: To characterize the clinico-pathologic features of gastric endoscopic biopsies seen in Port Harcourt. Methodology: This is a retrospective study of gastric endoscopic biopsies seen in a private pathology referral practice in Port Harcourt between 1st January 2014 and 31st December 2018. The relevant clinical and demographic information were obtained from patients’ laboratory request forms. The gastric biopsies were fixed in 10% neutral buffered formalin, processed, and stained with hematoxylin and eosin for general morphology. Modified Giemsa stain was used for Helicobacter pylori identification. The slides were reported using the updated Sydney classification.