Areej Al Nemer

Novel KRAS Gene Mutations in Sporadic Colorectal Cancer

Introduction In this article, we report 7 novel KRAS gene mutations discovered while retrospectively studying the prevalence and pattern of KRAS mutations in cancerous tissue obtained from 56 Saudi sporadic colorectal cancer patients from the Eastern Province. Methods Genomic DNA was extracted from formalin-fixed, paraffin-embedded cancerous and noncancerous colorectal tissues. Successful and specific PCR products were then bi-directionally sequenced to detect exon 4 mutations while Mutector II Detection Kits were used for identifying mutations in codons 12, 13 and 61. The functional impact of the novel mutations was assessed using bioinformatics tools and molecular modeling. Results KRAS gene mutations were detected in the cancer tissue of 24 cases (42.85%). Of these, 11 had exon 4 mutations (19.64%). They harbored 8 different mutations all of which except two altered the KRAS protein amino acid sequence and all except one were novel as revealed by COSMIC database. The detected novel mutations were found to be somatic. One mutation is predicted to be benign. The remaining mutations are predicted to cause substantial changes in the protein structure. Of these, the Q150X nonsense mutation is the second truncating mutation to be reported in colorectal cancer in the literature. Conclusions Our discovery of novel exon 4 KRAS mutations that are, so far, unique to Saudi colorectal cancer patients may be attributed to environmental factors and/or racial/ethnic variations due to genetic differences. Alternatively, it may be related to paucity of clinical studies on mutations other than those in codons 12, 13, 61 and 146. Further KRAS testing on a large number of patients of various ethnicities, particularly beyond the most common hotspot alleles in exons 2 and 3 is needed to assess the prevalence and explore the exact prognostic and predictive significance of the discovered novel mutations as well as their possible role in colorectal carcinogenesis.

Combined Use of Unguided FNA and CNB Increases the Diagnostic Accuracy for Palpable Breast Lesions

Obtaining nonsurgical precise diagnosis of a palpable breast lesion is of paramount importance. Both core needle biopsy (CNB) and fine needle aspiration (FNA) are validated techniques used for this purpose. In this study, we compared the accuracy of both methods and explored whether combining both tests adds significant diagnostic value, and for the first time, we tested the concordance of tumor grading in parallel biopsies with reference to surgical excision (SE).

Adult desmoplastic medulloblastoma

Medulloblastoma is more common in young age and rare in adult age. Some characteristics that characterize medulloblastoma in adults compared with children: Lateral cerebellar location, heterogeneous signal intensity on magnetic resonance imaging, desmoplastic histological variant and more favorable prognosis. Preoperative diagnosis is important for correct management of these patients. However, because of the low incidence of medulloblastoma in adults, preoperative diagnosis still challenging and prognostic factors and best treatment options are still controversial. We report a case of a 31-year-old male patient who presented with a rare case of posterior fossa medulloblastoma.

The pathological profile of Saudi females with palpable breast lumps: Knowledge that guides practice

Objective: The objective of this study is to determine the spectrum of pathologies of palpable breast lumps in females and their significance in different age groups in a setting where breast cancer (BCa) is prevalent in the younger population. This knowledge is crucial for modifications in the current screening programs. Materials and Methods: All needle biopsies for the complaint of breast mass felt by the female patients were retrospectively included over 4 years. Fisher exact test was used to determine the age of significant cancer risk. Results: Out of 140 cases met the inclusion criteria, 110 were BCa. The median age of BCa was 46 years. There was 68% positivity for BCa in cases belong to females below 40 years, and 75% in patients aged younger than 50 years. The age of 40 years old shows significant cancer risk. Conclusions: The results showed that almost 4 out of 5 females with palpable breast lumps subjected to needle biopsy had BCa. Although this risk is higher with increased age, BCa is a disease of young in the population under study. Review of the current preventive and management measures is critically needed.

The updated grading system of prostate carcinoma: an inter‐observer agreement study among general pathologists in an academic practice

In 2016, the grading criteria for Gleason scoring (GS) have been updated in the WHO classification of tumors of the prostate, and a new set of grade groups (GG) was introduced. As the inter‐observer discordance is a well‐known concern in Gleason grading before the update and no reproducibility study testing the grade groups exists, we planned to evaluate the inter‐observer agreement of the most updated grading system. Four pathologists assessed 126 cores of prostatic carcinoma, and Kappa (k) test was calculated. The agreements for both GS and GG were substantial (k = 0.753 and 0.752; respectively). Discerning GG 2 from 3 also attained reasonable outcome (k = 0.675). Based on our results, the updated grading system seems to be reproducible, with satisfactory inter‐observer concordance rate.

Chondroid lipoma associated with osteoclast-like multinucleated giant cells - a case report

Chondroid lipoma is a rare soft tissue neoplasm. We report case of chondroid lipoma associated with osteoclast‐like multinucleated giant cells. To the best of our knowledge, the presence of these giant cells has not been previously described in the English literature. The recognition of these cells is important and their occurrence in this rare neoplasm should not mislead the pathologist to misdiagnose this entity.

Combined Use of Unguided FNA and CNB Increases the Diagnostic Accuracy for Palpable Breast Lesions: Fine Needle Aspiration for Palpable Breast Lesions

Obtaining nonsurgical precise diagnosis of a palpable breast lesion is of paramount importance. Both core needle biopsy (CNB) and fine needle aspiration (FNA) are validated techniques used for this purpose. In this study, we compared the accuracy of both methods and explored whether combining both tests adds significant diagnostic value, and for the first time, we tested the concordance of tumor grading in parallel biopsies with reference to surgical excision (SE).

Prostatic diseases under focus in a university hospital in Eastern Saudi Arabia. A 15-year experience

Objectives: To explore the spectrum of pathologies diagnosed in prostatic biopsies of Saudi men, and test whether the frequency of diagnosing the malignant fraction has been changed over the last 15 years, and assess the association between chronic inflammation (CI) with both benign prostatic hyperplasia (BPH) and cancer (PCa), and investigate the histological findings of cases presented with acute urinary retention (AUR) clinically. Methods: This is a retrospective cohort study including all prostatic biopsies accessed in the files in the Surgical Pathology Laboratory of King Fahd University Hospital, Alkhobar, Kingdom of Saudi Arabia over 15 years (1999-2013) for Saudi men. Age, procedure indication, and final diagnoses were retrieved and slides were reviewed. Results: There were 360 cases included in this study with a median age of 65 year-old. The BPH comprised the most (64.7%), while PCa accounted for 89 cases, 13.5% of which were incidental. Most cases of both BPH and PCa were diagnosed in the seventh decade. The frequency of diagnosing PCa did not show a solid rise or fall over time. Chronic inflammation is more related to BPH than to PCa. Only CI showed a significant statistical association with AUR. Conclusion: Prostatic diseases show a stable trend over time. While CI is a common dominator for both BPH and PCa, it is associated more with BPH. Among all histological findings, only CI is related to the clinical presentation of AUR.