Diagnosing neurocysticercosis in skeletonized human remains of forensic importance

Neurocysticercosis is endemic in many parts of the underdeveloped and developing countries, with continuous presence in developed countries due to the influx of migrants from regions where the diseases are endemic. Neuroimaging, anatomic pathological techniques, immunodiagnostic tests, clinical examination and epidemiologic considerations will easily provide the diagnosis. However, physicians in developed countries are perhaps progressively missing the diagnosis, and need to re-acquaint themselves with the condition and acquire a high suspicion index. The authors present a medicolegal case where the forensic team made a conclusion of neurocysticercosis (among other diagnoses), following post mortem examination of a largely skeletonized and mummified human remains. Characteristic changes were observed in the calvarium of the decedent at autopsy. Review of the antemortem medical records revealed that Computed Tomography (CT) scan had 12 years earlier, suggested diagnostic features in a Hispanic migrant, but the attending surgeons failed to consider the possibility of the condition. Physicians should pay attention to suggestive clinical findings especially when attending to individuals coming from endemic parts of the world. Cysticercosis remains endemic and a misdiagnosis can potentially attract medical malpractice suits. Forensic pathologists should also consider the possibility of uncommon clinical disorders, even in skeletonized remains. Perhaps an earlier diagnosis might have altered the outcome in the decedent

Revew of \u3ci\u3eForensic Anthropology\u3c/i\u3e: \u3ci\u3eA Comprehensive Introduction\u3c/i\u3e

Review of Forensic Anthropology: A Comprehensive Introduction edited by Natalie R. Langley and Maria Teresa A. Tersigni-Tarrant. 2017, 2nd Edition. CRC Press, Taylor and Francis Group, Boca Raton, Florida, USA. ISBN: 13: 978-1-4987-3612-1 (Hardback). Reviewed by John O. Obafunwa and William R. Belcher, School of Global Integrative Studies, University of Nebraska-Lincoln. Overall, this text fits very well into the body of literature in forensic anthropology and has largely addressed the purpose for undergraduate and graduate courses. It is not overly technical, and it is good for undergraduate teaching and practical work. The reviewers would also recommend it to graduate students, and as a good resource text for practicing forensic anthropologists. It is hoped that the suggested changes will be reflected in the subsequent edition. Additionally, we believe that this text can also function as a compact field guide to be used while conducting case work and having numerous techniques and processes available at one’s fingertips. This second edition is easy to read and it is intended to meet a one-semester requirement. It is a textbook that can be used for advance undergraduate or graduate student curriculum. Furthermore, the chapter on Forensic Taphonomy can be expanded a bit to add some more information about the different forms of disposal often encountered, impact of geographical and soil type, and other abiotic factors that could modify the bone changes after death. This is particularly for the consumption of the graduate students and general practitioners, who of course would be required to possess additional specialized texts

Breast cancer receptor status assessment and clinicopathological association in Nigerian women: A retrospective analysis

Background: Breast cancer markers are becoming increasingly important in breast cancer research due to their impact on prognosis, treatment and survival. The present retrospective study was carried out to quantify the proportion of estrogen (ER), progesterone (PR), and human epithelial receptor 2 (HER2) expressions and their association with tumour grade, age, and tumour size in breast cancer patients in Nigeria. Materials and methods: The paraffin embedded tissue sections were analysed for breast cancer markers using monoclonal antibody SP1 for ER and SP2 for PR and polyclonal antibody ErbB2 for HER2. Results: A total of 286 breast cancer paraffin wax tissue sections were analysed for ER, PR and HER2 expression. Of all the tissue samples examined, 20 (7%) were ER-positive, 6 (2.1%) were PR-positive, 11 (3.8%) were HER2-positive whereas 248 (87%) were triple-negative breast carcinoma. ER- and PR-positivity was associated with early grade I and II tumours (P 50mm (P < 0.0001). Conclusion: A small proportion of Nigerian women with breast cancer are ER/PR-positive which are associated with less aggressive, better prognosis and benefit from endocrine therapy. An even smaller proportion of patients with aggressive tumors were HER2-posivite but responsive to Herceptin treatment. Unfortunately, a very high proportion of cases were triple-negative which is associated with very aggressive tumours and no targeted treatment, which may explain the high mortality rates from breast cancer in Nigeri

Gastrointestinal autonomic nerve tumours – report of a case and review of literature

<p>Abstract</p> <p>Background</p> <p>Gastrointestinal autonomic nerve tumours are uncommon stromal tumours of the intestinal tract. They can involve any part of the gastrointestinal system, but are very rarely seen in the rectum.</p> <p>Case presentation</p> <p>We report a unique case of rectal schwannoma with associated synchronous adenocarcinoma of the splenic flexure and adenoma of the descending colon. A 70-year-old patient was admitted with complaint of bleeding per rectum and investigations revealed the presence of a large submucosal rectal lesion in addition to the colonic pathologies. Following panproctocolectomy with permanent spout ileostomy, histopathology and immunohistochemistry confirmed the rectal lesion to be a schwannoma.</p> <p>Conclusion</p> <p>Literature review of the few reported cases has suggested radical surgical excision to be the best approach. Prognosis tends to be favourable after resection.</p

Tumor only analysis of whole exome sequencing from a multi-institutional Nigerian prostate cancer cohort reveals DNA repair genes associated with African ancestry

Men of African ancestry (MAA) have the highest global incidence and mortality of prostate cancer (PCa); however, the biology underlying this harsh disease presentation remains poorly understand, largely due to Africans and people within the African diaspora being under-represented in genomics research. MAA are younger at diagnosis, have higher tumor volume at diagnosis and have higher tumor aggression compared to European American men. Additionally, genomic profiling continues to show that PCa etiology and phenotype are influenced by higher amounts of African ancestry and that West African ancestry is associated with unique genomic alterations. Herein we utilize whole exome sequencing of a unique cohort of 45 advanced stage, treatment naïve Nigerian primary PCa tumors and 11 unmatched non-tumor tissue to compare genomic variants with African (AA) and European (EA) American TCGA PCa tumors. Nigerian samples were collected from 6 sites in central and southwest Nigeria. After whole exome sequencing, samples were processed using GATK best practices. Four genes [BRCA1 (100%), BARD1 (45%), BRCA2 (27%) and PMS2 (18%)] had germline variants in at least two Nigerian non-tumor samples. Across 111 germline variants, the AA cohort reflected a pattern [BRCA1 (68%), BARD1 (34%), BRCA2 (28%) and PMS2 (16%)] similar to Nigerian samples. Of the most frequently mutated genes, BRCA1 showed a statistically (p ≤ 0.05) higher mutation frequency in MAA. Disaggregating gene level mutation frequencies by variant revealed both ancestry linked and Nigerian specific germline variant patterns. Driven by rs799917, BRCA1 showed increasing mutation frequency as African admixture increased. BRCA2_rs11571831 was only present in MAA and BRCA2_rs766173 was increased in Nigerian men. 133 somatic variants were present in 26 PCa associated genes within the Nigerian tumor cohort. Nine genes [BRCA2 (27%), APC (20%), ATM (20%), BRCA1 (13%), DNAJC6 (13%), EGFR (13%), MAD1L1 (13%), MLH1 (11%) and PMS2 (11%)] showed mutation frequencies above 10%. Compared to TCGA cohorts, BRCA2, APC and BRCA1 showed statistically significant increases in Nigerian tumors. The Nigerian cohort variant pattern shared similarities (cosign similarities ≥ 0.734) with COSMIC signatures 5 and 6 and mutated genes showed significant (q < 0.001) GO and functional enrichment in mismatch repair and non-homologous repair deficiency (HRD) pathways. Here, we show that variants in DDR genes are increased in Nigerian PCa and that a portion of those variants correlate with increased African ancestry. Moreover, we identify variants of unknown significance that may contribute to population specific routes of tumorigenesis and treatment. These results present the most comprehensive characterization of the Nigerian PCa exome to date and further highlight the need to increase study population diversity

Utility of formalin-fixed, paraffin-embedded prostate biospecimens from low-resource settings for use in next-generation sequencing studies in African-descent populations

# Background Men of African ancestry experience higher burden from prostate cancer compared to men of other ancestral backgrounds. Limitations in the availability of high-quality biospecimens hinder the inclusion of this population in genetic studies of prostate cancer. The use of formalin-fixed paraffin-embedded (FFPE) tissues represent a potential rich source of genetic material particularly in some international settings, where fresh frozen tissue is difficult to obtain. In this study, we investigate the feasibility of using FFPE biospecimens acquired from various international sites for utility in next-generation sequencing. # Methods A total of 976 FFPE blocks were collected between 2002 and 2017 from six international sites in Africa and the Caribbean representing three consortia: Prostate Cancer Transatlantic Consortium; African-Caribbean Cancer Consortium; and Men of African Descent and Carcinoma of the Prostate. Genomic DNA was checked for quality and quantity. Differences in mean quality control (QC) for pre-and-post pathology training were assessed using t-test. Pearson chi-square with trend analysis examined association between time-category and QC success status. Association of continuous DNA quality (Q129/Q41 ratio) and time of specimen collection was estimated with linear regression. Samples with a DNA quantity \>0.2µg and a Q129/Q41 ratio \>0.00225 were submitted for whole exome sequencing (WES). # Results There was a positive relative percentage change in DNA quantity from 2002 to 2017 for Jamaica, Kenya and Senegal. There was a decline in DNA quantity over the same time period for Nigeria. There was a statistically significant improvement in quality of samples from Kenya (*P*=0.032), Nigeria (*P*\<.001) and Senegal (*P*=0.043). There was a significant improvement in the collected DNA sample quality over time with an R^2^ of 0.12. # Conclusions FFPE samples from low-resource settings could potentially provide sufficient DNA for WES. Improvements in biospecimen collection processing and storage for research are needed in some of these settings