Supratentorial Sporadic Hemangioblastoma: A Case Report With Mutation Profiling Using Next-Generation DNA Sequencing.

The present study aimed to determine genomic changes in sporadic intracranial hemangioblastoma (HBL), and the mutation patterns were analyzed using next-generation DNA sequencing (NGS). In this NGS analysis of the HBL tumor, 67 variants of 41 genes were identified. Of these, 64 were single-nucleotide variants (SNVs), two were exonic insertions and deletions (INDEL), and one was an intronic INDEL.

Mutation Profiling of Intracranial Myxopapillary Ependymoma by Next Generation DNA Sequencing.

Objectives: Primary intracranial myxopapillary ependymomas (MPE) are very rare. In order to determine genomic changes in an intracranial MPE, we analyzed its mutation patterns by next generation DNA sequencing.

Methods: Tumor DNA was sequenced using an Ion PI v3 chip on Ion Proton instrument and the data were analyzed by Ion Reporter 5.

EGFRvIII expression and isocitrate dehydrogenase mutations in patients with glioma.

Molecular pathology and personalized medicine are still being evolved in Saudi Arabia, and genetic testing for the detection of mutations as cancer markers have not been established in the diagnostics laboratories in Saudi Arabia. The aim of the present study was to determine the prevalence of isocitrate dehydrogenase (IDH1 and IDH2) mutations and epidermal growth factor receptor variant (EGFRv)III transcript expression in Saudi Arabian patients with glioma. Out of 117 brain tumors tested by reverse transcription-quantitative PCR for EGFRvIII, 41 cases tested positive.

Adamantinomatous Craniopharyngioma in an Adult: A Case Report with NGS Analysis.

Purpose: Several recent studies have documented and mutations which are mutually exclusive for adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP) tumors. This discovery is helpful in the development of novel targeted therapies in successful clinical trials with mutations in PCP cases. However, no such targeted therapy is available yet for ACP.

Next generation DNA sequencing of atypical choroid plexus papilloma of brain: Identification of novel mutations in a female patient by Ion Proton.

Choroid plexus papilloma (CPP) is a rare benign tumor of the central nervous system that is usually confined to the cerebral ventricles. According to the World Health Organization, CPP corresponds to a grade I atypical CPP (a-CPP); however, it can become more aggressive and reach grade II, which can rarely undergo malignant transformation into a choroid plexus carcinoma (grade III). To the best of our knowledge, identification of these tumors mutations by next generation DNA sequencing (NGS) has not been yet reported.

Quality of life assessment of breast cancer patients in Saudi Arabia.

Background: To assess the quality of life (QOL) of females with breast cancer in Saudi Arabia and its association with patients' demographic, social, and clinical data.

Materials And Methods: This analytical cross-sectional study was conducted among breast cancer patients attending King Abdullah Medical City, Makkah. Participants were asked to complete a self-administered structured questionnaire.

Follicular thyroid carcinoma within a thyroglossal duct cyst in adult.

Unlabelled: Thyroglossal duct cyst carcinoma is a rare malignancy, with an incidence of 0.7% to 1.6%.

Perspective of Saudi women in the Makkah region on breast cancer awareness.

Objective: To assess the perspective of Saudi women in the Makkah region on breast cancer awareness and early detection.

Materials And Methods: A mixed method study was conducted among 25-65 years old healthy Saudi females from Makkah region during the awareness campaign in October 2014. The participants were recruited by personal invitations at the women's places of work and social gatherings.

Sarcomatoid carcinoma of the cervix.

Sarcomatoid carcinoma is a rare pathological entity of the cervix. A case of FIGO stage III sarcomatoid carcinoma of the cervix is reported. The patient was treated with concurrent radiotherapy and chemotherapy.

Assessment of malignancy rate in thyroid nodules according to the Bethesda system of fine-needle aspiration. Report from a tertiary center in the Southwestern region of Saudi Arabia.

Objective: To determine the rates of malignancy of thyroid nodules in each standard cytologic diagnostic category of the Bethesda system.

Methods: In a retrospective cohort study from October 1998 to April 2007 at the Department of Pathology, Aseer Central Hospital, Southwestern region of Saudi Arabia, all cases of thyroid nodules that underwent preoperative cytologic examination by fine-needle aspiration (FNA) and concurrent postoperative histopathologic examination were included. All FNA diagnoses were reclassified using the thyroid FNA Bethesda reporting system, including non-diagnostic (insufficient), benign, atypical follicular lesion of undetermined significance (AFLUS), neoplasm, suspicious of malignancy, and malignant groups.