Study of Single Nucleotide Polymorphisms Associated with Breast Cancer Patients among Arab Ancestries.

The aim of this study is to investigate the single nucleotide polymorphisms (SNPs) associated with breast cancer in our population of Arab patients. We investigated 26 breast cancer patients and an equal number of healthy age- and sex-matched control volunteers. We examined the exome wide microarray-based biomarkers and screened 243,345 SNPs for their possible significant association with our breast cancer patients. Successfully, we identified the most significant (p value ≤9.14 × 10-09) four associated SNPs [SNRK and SNRK-AS1-rs202018563G; BRCA2-rs2227943C; ZNF484-rs199826847C; and DCPS-rs1695739G] among persons with breast cancer versus the healthy controls even after Bonferroni corrections (p value <2.05 × 10-07). Although our patients' numbers were limited, the identified SNPs might shed some light on certain breast cancer-associated functional multigenic variations in Arab patients. We assert on the importance of more extensive large-scale analysis to confirm the candidate biomarkers and possible target genes of breast cancer among Arab ancestries.

Atypical Presentation of Erythema Nodosum Following Pfizer-BioNTech COVID-19 Vaccine.

Background: Erythema nodosum (EN) is a common form of panniculitis that could be triggered by numerous conditions including infectious and non-infectious conditions. So far, few cases of EN caused by COVID-19 vaccine had been reported. Case Report: We report a case of atypical presentation of EN mimicking cellulitis in a patient who received the first dose of the Pfizer-BioNTech COVID-19 vaccine. A 38-year-old healthy woman who developed painful swelling on the left leg one week after receiving the first dose of Pfizer-BioNTech COVID-19 vaccine. Skin biopsy was revealed septal panniculitis. Due to the temporal association and the absence of other identifiable causes, Pfizer-BioNTech COVID-19 vaccine-related EN would be the most likely explanation. Conclusion: COVID-19 vaccines could be associated with rare side effects that should be reported for a better understanding of related outcomes of COVID-19 vaccination. This case was reported to keep in mind that EN can have atypical presentation as a rare side effect of COVID-19 vaccines.

Functional multigenic variations associated with hodgkin lymphoma.

INTRODUCTION: The current study aimed to describe genotypes associated with Hodgkin lymphoma (HL) in a cohort of Saudi and non-Saudi patients and discuss their possible susceptibility to HL. METHODS: We studied clinical, histopathological, and laboratory findings of HL patients admitted over 12 years duration, at King Fahd University Hospital, KSA. The genomic DNAs of HL patients (n = 61) and normal control subjects (n = 36) were extracted, and genotyping was performed using the Illumina human exome bead chip. Set of HL patients and set of normal controls were included in this study. RESULTS: A total of 35 DNA variants were found to be highly significant with the P-value <9.90 × 10-11 among 243 345 exonic biomarkers and obeying the Hardy-Weinberg equilibrium. Nine, MEGF11-rs150945752 (P-value 1.20 × 10-12 ), CACNA1I- s58055559 (P-value 1.93 × 10-12 ), DECR2-rs146760080 (P-value 2.19 × 10-12 ), STAB1-rs143894786 (P-value 2.45 × 10-12 ), ZNF526-rs144433879 (P-value 2.76 × 10-12 ), CPLANE1-rs200612080 (P-value 3.77 × 10-12 ), DLK1-rs1058009 (P-value 5.95 × 10-12 ), RTN4RL2-rs61745214 (P-value 7.71 × 10-12 ), and PGRMC1-rs145582672 (P-value 8.56 × 10-12 ), exonic variants on chromosomes 15, 22, and 16 were highly associated with HL cases. THE HIGHLY SIGNIFICANT HAPLOTYPES AT CHROMOSOME 3: rs143894786G; rs149982219G with P-value = 3.43 × 10-14 was found to be the risk haplotype for the HL patients. The opposite alleles at chromosome 3: rs143894786A; rs149982219G is protective with P-value = 2.46 × 10-12 . Maximum number of SNPs at the chromosome 19: rs144433879C; rs181265966G; rs201144421C; rs145591797G; rs200560875G; rs77270337G (risk P-value = 2.24 × 10-12 ) and its opposite allele rs144433879A; rs181265966A; rs201144421T; rs145591797A; rs200560875A; rs77270337A (protective P-value = 2.60 × 10-9 ) were found to be associated haplotype with the HL and controls, respectively, in Saudi population. CONCLUSION: Our study concludes that the HL is genetically heterogeneous with multigene causation.

Basal Cell Carcinoma with Sebaceous Differentiation: A Case Report and Review of Literature.

We report a very rare type of tumor in the left nasal ala in an elderly patient. An 81-year-old Saudi woman known to have hypertension, osteoporosis, and rheumatoid disease (who had been compliant to her medications) presented with a 0.5-cm fixed, firm, round well-defined nodule on the left ala of the nose (with crusting, erosion, and telangiectasia of the overlying skin), whose size had been gradually increasing for 2 years. The patient underwent excisional biopsy, and the specimen was sent for a histopathologic analysis. Macroscopic examination showed a round tan-white homogenous nodule, measuring 0.6 × 0.5 × 0.5 cm3. Microscopic examination revealed a fairly circumscribed unencapsulated dermal lesion, featuring basaloid cells with peripheral palisading, and focal stromal clefting. The final diagnosis of basal cell carcinoma with sebaceous differentiation was made. The patient was managed with Mohs surgery with clear margins, and full-thickness skin graft was done. Four months after surgery, the patient had a recurrence, which was managed with a surgical excision (with 4-mm margin) and covered by a full-thickness skin graft.

Carcinosarcoma of the Gallbladder with Chondrosarcomatous Differentiation and Intracytoplasmic Eosinophilic Hyaline Globules (Thanatosomes): A Report of a Case and Review of the Literature.

A 52-year-old woman presented with abdominal pain and vomiting. Computed tomography (CT) scan of the abdomen revealed a huge exophytic gallbladder mass displacing or invading the surrounding structures. The patient underwent radical cholecystectomy, transverse colectomy, distal gastrectomy, and liver bed resection. Histologically, the tumor showed both carcinomatous and sarcomatous components, with prominent chondrosarcomatous differentiation. In addition, several malignant cells showed intracytoplasmic eosinophilic hyaline globules (Thanatosomes). The tumor showed metastatic deposits to the omentum, the liver, and the peripancreatic lymph nodes. We report this unusual case and present a review of all cases of carcinosarcoma of the gallbladder with chondrosarcomatous differentiation.

Malignant gastrointestinal neuroectodermal tumor: a case report and review of the literature.

BACKGROUND: Malignant gastrointestinal neuroectodermal tumor (GNET) is an extremely rare entity that was first described by Zambrano et al. in 2003 as "Clear cell sarcoma-like tumor of the gastrointestinal tract". It shares some of the histological features of clear cell sarcoma (CCS) but lacks the immunohistochemical reactivity for melanocytic markers. We report a case of GNET that was initially misdiagnosed as gastrointestinal stromal tumor (GIST). Recognizing this entity is important to avoid misdiagnosis. CASE PRESENTATION: A case of an 18-year-old male presented with a small intestinal tumor. Histologically it was characterized by polygonal cells arranged in pseudoalveolar pattern and situated in the muscularis propria. Scattered osteoclast-like multinucleated giant cells were also noted. The neoplastic cells were positive for S-100 protein and negative for HMB-45, Melan A, smooth muscle actin, desmin and CD117. EWSR1 gene rearrangement was detected by fluorescence in situ hybridization (FISH) analysis. The patient returned with recurrence after 36 months' management by surgical resection and died one year later. CONCLUSIONS: GNET can be mistaken histologically for other non-epithelial gastrointestinal tumors. Awareness of its existence and diagnostic criteria by the pathologist is necessary to avoid misdiagnosis, particularly as GIST, CCS or malignant peripheral nerve sheath tumor (MPNST).