Ovarian cancer is one of the most prevalent neoplasms worldwide and it affects women of all ages. This study aimed to identify the common histopathological patterns of ovarian cancer among different age groups in the western region of Saudi Arabia. This was a retrospective study that reviewed all ovarian specimens diagnosed as “ovarian tumors” by the Pathology Department from January 2016 to December 2020 at King Abdulaziz University Hospital, Saudi Arabia. The frequencies of ovarian neoplasm subtypes and their frequencies in different age groups were calculated. Out of 565 ovarian specimens studied, 63.2% were ovarian neoplasms while 36.8% were non-neoplastic functional cysts. Benign neoplasms 64.4% were more common than borderline 6.2% and malignant ones 29.4% in all age groups, except above the age of 60. Collectively as a category, surface epithelial neoplasms were the most common (59.4%). However, germ cell tumor in the form of mature cystic teratoma was the most common benign neoplasm 33.9% and the most common malignant was serous cystadenocarcinoma (40%). Documenting new trends of histopathological patterns of ovarian neoplasms helps to detect variation among different age groups and to understand probable predisposing factors. This study found that the percentage of ovarian malignancy has increased over the years in the western region of Saudi Arabia. This signifies the need to increase awareness in order to achieve timely diagnosis and management.

Cell blocks (CBs) are paraffin-embedded versions of cytology specimens. These versions are contrasted with tissues made from surgical pathology specimens of formalin-fixed paraffin-embedded (FFPE) tissue. CBs enable various elective ancillary studies of a range of specimens. These studies include the potential to perform molecular tests with the enhanced cytopathological interpretation. CBs are increasingly reported in cytology specimens. The enhanced role of CBs incorporates additives with new markers for immunohistochemistry (IHC), including the multicolored approach to IHC, and the subtractive coordinate immunoreactivity pattern. Even when archived material is retrospectively retrieved, CBs are a major tissue source for many supplementary studies. The CBs have been qualitatively and quantitatively improved. CBs are significant since they have increased molecular markers standardized on FFPE tissue. High-quality CBs can serve as useful additions to cytological smear preparations and touch imprint cytology. Most cytological specimens, such as fine-needle aspirations, cavitary effusion, washings, brushings, and gynecological and non-gynecological liquid specimens, may be used to produce CBs. This review deals with the CB-making process and discusses various historical limitations with an emphasis on recent advances.

Background: KRAS/NRAS/BRAF mutations are prognostic and predictive molecular biomarkers for colorectal cancers (CRCs). CRC has different frequencies in the population for mutations such as KRAS, NRAS, and BRAF. The aim of this study is to verify the frequency of the somatic KRAS/NRAS/BRAF mutations in Saudi academic hospital patients diagnosed with CRC and compare it with those estimated at the local and national levels. Methods: Out of 280 colorectal carcinomas diagnosed between 2018 and 2021 (primary and secondary), 97 (34.6%) were evaluated by Next Generation Sequencing (NGS) for colorectal cancer molecular markers. Four of these failed the PCR amplification, while 93 were successfully tested. KRAS, NRAS, and BRAF mutation rates and clinical pathological characteristics were recorded. Results: In this retrospective study, almost half of the tested samples were reported to have a clinically significant mutation (46/93 positive calls, while others were triple-negative). We found that the most prevalent mutation in KRAS (45.2%) was followed by NRAS (2.2%) and BRAF (2.2%). KRAS p.G12D accounted for the most frequently resulting variant (17/42, 40.5%). Second in ranking is KRAS p. G12V (6/42, 14.3%). Conclusion: This study is the first to describe the frequency of triple mutations in the city of Jeddah. The findings are consistent with previous research conducted in the Middle East and other local Saudi centers.

Objectives: Fine-needle aspiration (FNA) cytology plays a pivotal role in diagnosing thyroid nodules. Imaging assessment, followed by thyroid lesion sampling, is a widely applied clinical practice. Tissue fragments remnants are retrieved in cell-block providing an adjunct diagnostic tool for histopathology visualization and use of ancillary testing. This study aimed to evaluate whether the auxiliary application of cell-block adds to the diagnostic accuracy of the thyroid FNA. Material and Methods: A total of 252 thyroid FNA cases between (2020 and 2021) were reviewed from patients aged 18–76. Of those, 150 cell-blocks were recovered and examined to assess their utility. Following categories were plotted during cell-blocks revision: (A) Inadequate material retrieved; (B) cell-block shows similar features along with their accompanying smears; and (C) value added to cytology diagnosis when using cell-block. Results: The distribution of cell-blocks according to the aforementioned classification are as follows: A — non-diagnostic 63%, B — similar observation seen in both preparations 35%, and C — value added to the rendered diagnosis 2%. Hence, the use of cell-block improved cytology diagnosis in only 2% of total cases. Mostly were of immunostains application for diagnosis confirmation. Conclusion: The non-diagnostic and atypical cytology cases have not been upgraded to a more meaningful category by the incorporation of cell-block performed with the routine non-enhancement random method. On the other hand, cell-blocks contributed generously toward immunostaining application in malignant scenarios.

The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) is widely used for the standardized reporting of thyroid fine-needle aspiration (FNA) cytology. The 2023 revision of TBSRTC introduced specific subcategories for the classification of atypia of undetermined significance (AUS). This study tests the association between AUS subtypes and malignant diagnoses, namely AUS- nuclear atypia and AUS-other, in archived thyroid - FNA specimens with atypia from 2018-2022 at King Abdulaziz University Hospital. A total of 104 thyroid - FNA specimens with AUS were re-evaluated cytologically and correlated with subsequent surgical outcomes, along with a discussion of discrepant cases.

Background: Oculocutaneous albinism (OCA) is an autosomal recessive disorder of low or missing pigmentation in the eyes, hair, and skin. Multiple types of OCA, including Hermansky-Pudlak syndrome 6 (HPS6), are distinguished by their genetic cause and pigmentation pattern. HPS6 is characterized by OCA, nose bleeding due to platelet dysfunction, and lysosome storage defect. To date, 25 disease-associated mutations have been reported in the HPS6 gene. Methods: DNA was extracted from proband, and whole-exome sequencing (WES) was performed using the Illumina NovaSeq platform. Bioinformatic analysis was done with a custom-designed filter pipeline to detect the causative variant. We did Sanger sequencing to confirm the candidate variant and segregation analysis, and protein-based structural analysis to evaluate the functional impact of variants. Result: Proband-based WES identified two novel homozygous mutations in HPS6 (double mutation, c.1136C>A and c.1789delG) in an OCA suspect. Sanger sequencing confirmed the WES results. Although no platelet and/or lysosome storage defect was detected in the patient or family, an oculocutaneous albinism diagnosis was established based on the HPS6 mutations. Structural analysis revealed the transformation of abnormalities at protein level for both nonsense and frameshift mutations in HPS6. Conclusion: To the best of our knowledge, the double mutation in HPS6 (p.Ser379Ter and p.Ala597GlnfsTer16) represents novel pathogenic variants, not described previously, which we report for the first time in the Saudi family. In silico analyses showed a significant impact on protein structure. WES should be used to identify HPS6 and/or other disease-associated genetic variants in Saudi Arabia, particularly in consanguineous families.