Analysis of the genomic landscapes of Barbadian and Nigerian women with triple negative breast cancer.

PURPOSE: Triple negative breast cancer (TNBC) is an aggressive breast cancer subtype that disproportionately affects women of African ancestry (WAA) and is often associated with poor survival. Although there is a high prevalence of TNBC across West Africa and in women of the African diaspora, there has been no comprehensive genomics study to investigate the mutational profile of ancestrally related women across the Caribbean and West Africa. METHODS: This multisite cross-sectional study used 31 formalin-fixed paraffin-embedded (FFPE) samples from Barbadian and Nigerian TNBC participants. High-resolution whole exome sequencing (WES) was performed on the Barbadian and Nigerian TNBC samples to identify their mutational profiles and comparisons were made to African American, European American and Asian American sequencing data obtained from The Cancer Genome Atlas (TCGA). Whole exome sequencing was conducted on tumors with an average of 382 × coverage and 4335 × coverage for pooled germline non-tumor samples. RESULTS: Variants detected at high frequency in our WAA cohorts were found in the following genes NBPF12, PLIN4, TP53 and BRCA1. In the TCGA TNBC cases, these genes had a lower mutation rate, except for TP53 (32% in our cohort; 63% in TCGA-African American; 67% in TCGA-European American; 63% in TCGA-Asian). For all altered genes, there were no differences in frequency of mutations between WAA TNBC groups including the TCGA-African American cohort. For copy number variants, high frequency alterations were observed in PIK3CA, TP53, FGFR2 and HIF1AN genes. CONCLUSION: This study provides novel insights into the underlying genomic alterations in WAA TNBC samples and shines light on the importance of inclusion of under-represented populations in cancer genomics and biomarker studies.

Breast cancer pathology services in sub-Saharan Africa: a survey within population-based cancer registries.

BACKGROUND: Pathologists face major challenges in breast cancer diagnostics in sub-Saharan Africa (SSA). The major problems identified as impairing the quality of pathology reports are shortcomings of equipment, organization and insufficiently qualified personnel. In addition, in the context of breast cancer, immunohistochemistry (IHC) needs to be available for the evaluation of biomarkers. In the study presented, we aim to describe the current state of breast cancer pathology in order to highlight the unmet needs. METHODS: We obtained information on breast cancer pathology services within population-based cancer registries in SSA. A survey of 20 participating pathology centres was carried out. These centres represent large, rather well-equipped pathologies. The data obtained were related to the known population and breast cancer incidence of the registry areas. RESULTS: The responding pathologists served populations of between 30,000 and 1.8 million and the centres surveyed dealt with 10-386 breast cancer cases per year. Time to fixation and formalin fixation time varied from overnight to more than 72 h. Only five centres processed core needle biopsies as a daily routine. Technical problems were common, with 14 centres reporting temporary power outages and 18 centres claiming to own faulty equipment with no access to technical support. Only half of the centres carried out IHC in their own laboratory. For three centres, IHC was only accessible outside of the country and one centre could not obtain any IHC results. A tumour board was established in 13 centres. CONCLUSIONS: We conclude that breast cancer pathology services ensuring state-of-the-art therapy are only available in a small fraction of centres in SSA. To overcome these limitations, many of the centres require larger numbers of experienced pathologists and technical staff. Furthermore, equipment maintenance, standardization of processing guidelines and establishment of an IHC service are needed to comply with international standards of breast cancer pathology.

Marjolin's ulcer: Sequelae of mismanaged chronic cutaneous ulcers.

OBJECTIVE: This study was to evaluate the current pattern and risk factors of Marjolin's ulcer in the authors' setting. SETTINGS AND PARTICIPANTS: Twenty-one patients with histological diagnosis of skin malignancy at the University of Calabar Teaching Hospital, Calabar, Nigeria. METHODS: Presented are patients with histologic diagnosis of Marjolin's seen in the University of Calabar Teaching Hospital, Calabar, Nigeria from January 2007 through December 2007. RESULTS: Five patients (3 men and 2 women) with Marjolin's ulcer whose ages ranged from 32 to 70 years (mean 46.6 years) accounted for 45.5% of squamous cell carcinoma. All the patients suffered traumatic injuries (4 lower limb injuries from road traffic accidents and 1 puncture wound of the upper limb) and the latency was 21.4 years. CONCLUSIONS: Chronic trauma-induced limb ulceration is the leading risk factor for Marjolin's ulcer. Health education, early detection, and proper management of chronic wounds would improve outcome.

Cutaneous cancers in Calabar, Southern Nigeria.

Globally, cutaneous cancers are among the most common form of cancer. Among Africans, there are significant differences in the types of skin cancer compared to those documented in patients from other countries. We evaluated all the patients with a histological diagnosis of skin cancer presenting to the University of Calabar Teaching Hospital from January 2005 through December 2006. Twenty-nine patients (18 males and 11 females) with skin cancer were identified and these accounted for 8.0 percent of total malignancies. Their ages ranged from 16 to 70 years (mean 43.5 years). Kaposi sarcoma (KS) was the most common skin cancer. Kaposi sarcoma associated with HIV represented 81.8 percent of KS cases found. Squamous cell carcinoma (SCC) ranked second and malignant melanoma third. Of the skin cancers in our series, the most common site was the lower limb (55.2%), followed by the head and neck (24%). The 4 albinos accounted for 13.8 percent of the skin cancers found. Immunosuppression (KS), chronic ulcer, inflammation, albinism, and solar radiation were identified risk factors. Public education strategies on prevention, with an emphasis on early identification and surgical treatment of skin cancers are urged. In addition, treatment of and close observation of chronic ulcers are recommended.

Major dermatologic malignancies encountered in a teaching hospital surgical department in South Nigeria.

BACKGROUND: Dermatologic malignancies are among the most common form of cancer. However, dark-skinned individuals of African descent are said to be far less likely than fair-skinned individuals to develop skin cancer. Significant differences in the pattern of skin malignancy have also been observed in different regions of Africa. OBJECTIVE: The aim of this study was to evaluate the pattern, site incidence, and outcome of treatment of major histologically diagnosed dermatologic malignancies encountered in a teaching hospital surgical department in South Nigeria. METHODS: We evaluated patients with histologic diagnoses of major dermatologic malignancies that presented to the University of Calabar Teaching Hospital, Calabar, Nigeria between January 2000 and December 2004 and compared our findings with the total number of patients diagnosed with malignancies at the same hospital over the same period. This hospital is located in South Nigeria. RESULTS: There were 63 histologically diagnosed dermatologic cancers, comprising 10% of all histologically diagnosed cancers at the University of Calabar Teaching Hospital during the study period. Squamous cell carcinoma (SCC) was the most common (n = 23; 37%), followed by Kaposi sarcoma (KS) [n = 17; 27%]. Other malignancies included basal cell carcinoma (BCC), melanoma, and dermatofibrosarcoma protuberans (DFSP) [n = 5; 8% each]. The peak age varied with the type of cancer but none was found in patients in the first decade of life. The lower limb was the most frequent site of SCC (Marjolin ulcer), KS, and melanoma, while BCC was most common on the head, neck, and upper limb. Excision surgery resulted in healing of all cases of BCC. Some patients with SCC and melanoma presented late for curative surgery. Some African KS tumors were chemosensitive. There was a high recurrence rate for DFSP. CONCLUSION: This study revealed a similar pattern of dermatologic malignancies in South Nigeria compared with other parts of Africa but also some regional differences (e.g. in Kano, melanoma ranked second). The pattern was, however, in sharp contrast to that seen with Caucasian populations, in whom 80% of the lesions are BCC and 20% are SCC. Public education, implementation of preventive strategies, and early presentation of disease would improve outcomes of dermatologic malignancies in Nigeria.

Paucity of HPV-Related Head and Neck Cancers (HNC) in Nigeria.

INTRODUCTION: The burden of HPV-related Head and Neck Cancers (HNC) has been rising in the U.S. and other developed countries but this trend has not been reported in Africa. Objective of study was to evaluate the prevalence of HPV infection in HNC cancer cases seen between 1990 and 2011 at the tertiary health care institutions in Nigeria. METHODS: We retrieved 149 head and neck cancer formalin fixed, paraffin embedded tumor specimens diagnosed between 1990 and 2011 from four teaching hospitals in Nigeria. One hundred and twenty-three blocks (83%) contained appropriate HNC for analysis while DNA extraction was successful in 60% (90/149). PCR amplification was successful in 33% (49/149) and Linear Array genotyping for HPV was successful in 11% (17/149) of these cases. These were in tumors from the larynx (6), cervical lymph nodes (3), nasal cavity (2), parotid (1), palate (1), maxillary sinus (1) and mandible (1). Two cases were non-specific and none were from the oropharynx. Histologically, 41% (7/17) of the successfully genotyped blocks were squamous cell carcinomas (larynx 6, maxillary sinus 1). RESULTS AND CONCLUSION: We were unable to detect HPV in any of the HNC samples in our study. Our result may suggest that there is a low prevalence of HPV-related HNC among the adult population in Nigeria. Our results provide a benchmark to compare future incidence of HPV -related HNC in this community in future. We had significant analytical challenges from possible poor tissue processing and urge that future studies should prospectively collect samples and ensure high quality sample processing.

Recurrent benign schwannoma of the scalp: Case report.

INTRODUCTION: Schwannomas are benign neoplasm's arising from Schwann cells. Malignant change is rare. PRESENTATION OF CASE: A 42-yearold man presented with a 6-year history of a recurrent right sided multinodular scalp lesion. DISCUSSION: Surgery revealed multiple ovoid masses in a scalp lesion. Histology revealed benign schwannoma. CONCLUSION: Schwannoma may present as multiple lesions in a multilobulated scalp lesion and should be considered as differential diagnosis.

Major dermatological malignancies encountered in the University of Calabar Teaching Hospital, Calabar, southern Nigeria.

BACKGROUND: Dermatologic malignancies are among the most common forms of cancer. Sun exposure is the major risk factor in white people, while non-solar factors appear to be the leading risk factor in the darkly pigmented. METHODS: We examined 162 patients with histologic diagnosis of dermatological malignancy who consulted at the University of Calabar Teaching Hospital, Calabar from January 2000 to December 2009. RESULTS: The 162 patient cases observed during the study represent 12% of all cancers diagnosed within the same period. Squamous cell carcinoma (SCC) was the most common (n = 62; 38.3% followed by Kaposi sarcoma (KS) (n = 33; 30.9%). Others were malignant melanoma (MM) (n = 16; 9.9%), dermatofibrosarcoma protuberans (DFSP) (n = 11; 6.8%), and basal cell carcinoma (BCC) (n = 8; 4.9%). The lower limb was the most commonly afflicted site (n = 82; 48.8%) while the head and neck ranked second (n = 32; 22.0%); 146 patients (90%) were darkly pigmented and 16 (10%) were people with albinism. Some patients with SCC and MM consulted late for curative surgery. Surgery resulted in healing in patients with BCC, while the recurrent rate for DFSP was high. The endemic KS responded to cytotoxic chemotherapy but the result was poor for KS associated with human immunodeficiency virus. CONCLUSION: The pattern of dermatologic malignancy revealed in this study is different from that of European skin cancer. Health education, early implementation of preventive measures, early consultation, and treatment will improve outcome in our region.

Skin cancers amongst four Nigerian albinos.

BACKGROUND: Albinism is an established risk factor for skin cancer in black Africans, and high levels of ultraviolet radiation increase the risk of the three major forms of skin cancer. METHODS: We present four albinos with histologic diagnoses of skin cancer who were seen at the University of Calabar Teaching Hospital, Calabar, Nigeria from January 2005 to December 2006. Skin cancer in these cases was compared with the total skin cancer affecting 29 patients during the study period. RESULTS: Twenty-nine patients presented with skin cancer during the study period. Four Nigerian albinos (two men and two women) with skin cancer accounted for 13.8% of the skin cancers observed during the 2-year period. They ranged in age from 22 to 40 years (mean, 27.8 years). The sites of the lesions included the head [squamous cell carcinoma (SCC) in two patients and basal cell carcinoma (BCC) in one patient] and the upper limb (melanoma). All tumors were excised; in addition, patients with SCC and melanoma received adjuvant chemotherapy. Two patients, one woman with SCC and the patient with melanoma, showed residual tumor because of inadequate excision. During the evaluation period between 14 and 18 months, the sites appeared to be healed with no evidence of recurrence in the male with SCC and female with BCC. CONCLUSION: Albinism and solar radiation are risk factors for skin cancer. Early implementation of public education strategies on prevention should improve outcome.

Kaposi sarcoma in calabar, southern Nigeria.

OBJECTIVES: There has been an increase in the prevalence of Kaposi sarcoma (KS) with the emergence of Human Immunodeficiency Virus (HIV). METHODS: Patients with histologic diagnosis of KS seen in the University of Calabar Teaching Hospital, Calabar between January 2007 and December 2008 were studied. Diagnosis of HIV was based on enzyme linked immunosorbent assay (ELISA). RESULTS: In total, 15 patients (10 males, 5 females, M: F=2:1) presented with KS and accounted for 33.0% of total skin malignancy and ranked second after squamous cell carcinoma, 42.0%. Their ages ranged from 5 and 60 years (mean 37.5 years). Twelve patients (M=8, F=4), 80%, were HIV seropositive, while 3 (M=2, F=1) were HIV seronegative. The lower limb was the commonest affected site, 57.9%. CONCLUSION: The most common clinical type was HIV related KS. Ignorance, sociocultural beliefs, poverty, late presentation were underlying issues.

Basal cell carcinoma in five albino Africans from the south-eastern equatorial rain forest of Nigeria.

BACKGROUND: Basal cell carcinoma (BCC) is the most common cutaneous malignancy in the white population and occurs infrequently in dark-pigmented individuals. Albinism is an established risk factor for skin cancer in black Africans. METHODS: We evaluated the clinical histories and treatment outcomes of patients with a histologic diagnosis of BCC, who were seen at the University of Calabar Teaching Hospital, Calabar, Nigeria between January 2000 and December 2004. RESULTS: Five albino Nigerians (two men, three women) with BCC represented 8% of the patients with cutaneous malignancies observed during the 5-year period. The five patients ranged in age from 21 to 60 years (mean, 38 years); six BCCs (67%) were located in the head and neck area, and three tumors (33%) involved the upper limbs. Lesions were removed by excision with primary closure, except for large fleshy tumors that were treated by excision and electrocautery. During evaluation from 9 months to 3 years after treatment, all sites appeared healed, and there was no evidence of recurrence or new tumors. CONCLUSIONS: Albinism and environmental exposure to ultraviolet light were identified as risk factors for the development of BCC. Implementation of public education strategies concerning prevention would improve the prognosis and healthcare costs associated with these tumors.

Marjolin's ulcer: the importance of surgical management of chronic cutaneous ulcers.

Chronic cutaneous ulcers are commonplace in the developing world, especially in rural areas with poor living conditions and often result from the trauma of road-traffic injuries. Chronic cutaneous ulcers may also be due to vascular insufficiency, neuropathy, nodular leprosy, pressure, diabetes, or hemoglobinopathies, or they may be tropical ulcers. If poorly managed, these lesions may undergo malignant transformation. We evaluated the clinical histories and treatment outcomes of patients seen at the University of Calabar Teaching Hospital, between January 2000 and December 2004, who had histologic diagnosis of Marjolin's ulcer, in an attempt to identify risk factors for this problem. The six patients were men, age 30-70 years (mean, 42 years). Trauma was the leading cause of injury leading to ulceration: road-traffic accidents (four patients, 66.7%), fall (one patient, 16.7%), and flame burn (one patient, 16.7%). Most injuries involved the limbs: lower (four patients, 66.7%) and upper (one patient, 16.7%). The histologic diagnosis in all the cases were squamous cell carcinoma and mean latency period from injury to diagnosis of malignancy was 18.5 years. All the patients had been admitted because of poor results from topical treatment. Three patients (50%) were managed with wide excision and skin grafting with the lesions healed. Ignorance as well as economic and sociocultural factors were the underlying issues. Education concerning the risks associated with chronic wounds and the need for prompt and proper surgical management are recommended.