Oestrogen receptor/progesterone receptor and human epidermal growth factor receptor 2 status in breast cancer: a 9-year study at Princess Noorah Oncology Center, Saudi Arabia.

OBJECTIVE: To determine the oestrogen receptor/progesterone receptor (ER/PR) and human epidermal growth factor receptor 2 (HER2) status in Saudi Arabian patients presenting with breast cancer to Princess Noorah Oncology Center (PNOC) and to explore the correlation of these markers to each other, to tumour type and to grade. METHODS AND RESULTS: Pathology material and records of symptomatic patients presenting to the centre during 2001-2009 were reviewed for patients' age, tumour size, type and grade and ER/PR and HER2 immunohistochemistry (IHC) status using the Dako HercepTest Kit as well as fluorescence in situ hybridization (FISH) for HER2 IHC 2+ score cases, as per the 2007 American Society of Clinical Oncology/College of American Pathologists (ASCO/CAP) guidelines. There were 852 cases, with a mean age of 49years and a mean tumour size of 3.0 cm with 75% node positivity. Of all cases, 772 (90.6%) were ductal carcinoma; 64% were ER/PR(+) and 23% were HER2(+); triple-negative cases accounted for 24%. CONCLUSIONS: ER/PR and HER2 status did not differ from that reported previously, showing a direct correlation to tumour type and grade of ductal carcinoma. However, a difference exists in the relatively lower ER positivity in patients aged >50 years and the higher percentage of triple-negative cases. This study would serve as a baseline for other future national studies and for planning strategies to targeted therapy.

Blue rubber bleb nevus syndrome: extensive small bowel vascular lesions responsible for gastrointestinal bleeding.

Blue Rubber Bleb Nevus Syndrome is a rare condition characterised by multiorgan venous malformations, in particular of cutaneous area and the gastrointestinal (GI) tract. We report here a child with chronic iron deficiency anaemia, melena and skin lesions. She had severe hypochromic microcytic anaemia. Upper and lower endoscopy revealed hundreds of red-bluish polypoid lesions involving the entire GI tract primarily of the small bowel. Due to localisation of the most severe lesions, the patient responded well to surgical treatment, allowing a sustained clinical remission.

Rapid evolution of a choroid plexus papilloma in an infant.

Choroid plexus papilloma (CPP) is primarily found in children less than 2 years of age but can also be diagnosed prenatally. The presentation of a large CPP during infancy is not uncommon and surgical excision is usually recommended without delays. As a result, information about the growth rate of CPP during infancy is lacking. We report a preterm infant who presented with a choroid plexus papilloma that grew from being undetected on MRI to reaching a large size in 5 months. The case is unique in that it provides documentation of the rapid growth potential of this benign tumour in infancy. A possible explanation for this occurrence is discussed.

Thyroid Nodules Cytopathology Applying the Bethesda System with Histopathological Correlation.

BACKGROUND: Fine-needle aspiration cytology remains a valuable screening tool for preoperative management of thyroid nodules. However, the rates of false-negative and false-positive diagnosis remain a challenge for pathologists. OBJECTIVES: To assess the value of thyroid fine-needle aspiration as a screening tool and its accuracy of diagnoses relative to final histological diagnoses. PATIENTS AND METHODS: A chart review was conducted of all adult patients who underwent fine-needle aspiration of thyroid nodule(s) and were subjected to thyroid surgery at King Abdulaziz Medical City, Jeddah, Saudi Arabia, between January 2007 and June 2014. The fine-needle aspiration results were correlated with final histopathology results. RESULTS: Of the 408 aspirates from 373 patients, the Bethesda System for Reporting Thyroid Cytology (BSRTC) diagnostic categories were as follows: nondiagnostic in 26 aspirates (6.4%); benign in 128 (31.4%); atypia/follicular lesion of undetermined significance in 52 (12.7%); follicular neoplasm/suspicion for a follicular neoplasm in 83 (20.3%); suspicious for malignancy in 23 (5.6%) and malignant in 96 (23.5%). The comparative histopathological diagnoses were benign in 192 (47.1%) and malignant in 216 (52.9%) aspirates. The calculated risk of malignancy in the fine-needle aspiration categories was 34.6% in diagnostic category (DC) I, 15.6% in DC II, 50% in DC III, 52% in DC IV, 95.7% in DC V and 100% in DC VI. The sensitivity of fine-needle aspiration with BSRTC was 88.9%, specificity was 75.6%, positive predictive value was 79.7%, negative predictive value was 84.4% and accuracy was 81.5%. CONCLUSION: The results of this retrospective study demonstrated higher risks of malignancy in DC I, DC II, DC III and DC IV than that of the original BSRTC definition, along with a higher specificity and positive predictive value for cancer diagnosis, and a lower sensitivity and negative predictive value.

Spectrum of the KIT Gene Mutations in Gastrointestinal Stromal Tumors in Arab Patients

Background: Gastrointestinal stromal tumors are the most common mesenchymal tumors of the gastrointestinal tract, which originate from the interstitial cells of Cajal. These tumors are characterized by expression of CD117 and CD34 antigens and activating mutations in the KIT and PDGFRA genes. While KIT and PDGFRA mutations have been extensively studied in other populations, the spectrum of mutations in Arab patients remains unknown. The study aimed at determining the distribution of KIT and PDGFRA mutations and phenotypic characterization of the gastrointestinal stromal tumors in Arab patients. Methods: Sanger sequencing was used to analyze 52 archived gastrointestinal stromal tumors for mutations in the KIT and the PDGFRA genes. Tumor descriptions were obtained from the clinical reports of patients. Results: In these patients, most tumors occur in the stomach, followed by the rest of the digestive tract. A vast majority of tumors express the CD117 and CD34 antigens. Sequencing of the KIT and PDGFRA genes identified five non-synonymous mutations and 26 deletions (25 novel) in exon 11 of the KIT gene. All non-synonymous mutations and deletions affect the juxta-membrane domain, which is known to inhibit ligand-independent activation of the KIT receptor. No mutations were found in the PDGFRA gene. Conclusions: Molecular profiling of the gastrointestinal stromal tumors in Arab patients identified a unique spectrum of mutations in exon 11 of the KIT gene. These data are important for the diagnosis and management of patients of Arab ethnic origin.

Epidermolytic Ichthyosis without Keratin 1 or 10 Mutations: A Case Report.

In this paper, the authors report a case of an 11-year-old boy with epidermolytic ichthyosis who presented with multiple scattered erosions and typical hyperkeratotic plaques over the face, upper and lower extremities, the trunk, palms and soles. Family history revealed an affected older male sibling and an affected first-degree female relative. In addition, there was a positive history of generations of consanguinity in the patient's family pedigree, increasing the probability of an autosomal recessive inheritance. The clinical diagnosis was confirmed by histopathology; however, mutations in the keratin 1 and 10 genes were absent. This case report addresses the importance of establishing correct diagnosis and mode of inheritance, with literature review of genetic mutations, possible differential diagnosis and the most common and successful treatment modalities for epidermolytic ichthyosis.

An Unusual Variant of Adenocarcinoma of the Left Colon Associated With Microsatellite Instability: A Case Report.

We report a case of colonic adenosquamous carcinoma with MSI-H (microsatellite instability-high) in a 43-year-old male who presented with bowel obstruction due to a circumferential mass involving the descending colon and splenic flexure. Microscopically, it showed poorly differentiated adenocarcinoma with squamous differentiation, tumor infiltrating lymphocytes >3/high-power field, and mild peritumoral lymphocytic response. Immunohistochemistry was equivocal for MLH-1, PMS-2, and MSH-2, with retention of MSH-6 expression. Polymerase chain reaction testing demonstrated MSI-H pattern with instability of BAT-25, BAT-26, and NR-21. Review of the literature revealed only one recently published case of MSI-H adenosquamous carcinoma. The role of MSI in adenosquamous carcinoma pathogenesis is still unknown. In conclusion, MSI testing in colonic adenosquamous carcinoma combined with other MSI-related clinical and histological features is indicated.

IgG4-related sclerosing mesenteritis in a 7-year-old Saudi girl.

Sclerosing mesenteritis (SM) is a rare, benign inflammatory disorder of unknown etiology, affecting the membranes of the digestive tract that involves lymphoplasmacytic inflammation, fat necrosis, and fibrosis of the mesentery. We report a child patient with a history of recurrent abdominal pain and fever who was found to have an intra-abdominal mass suspicious for malignancy. A tissue biopsy revealed the diagnosis of SM associated with IgG4-related systemic disease. The patient is currently maintained on 5 mg prednisone daily and no recurrence of symptoms was noted during the 24-month follow-up period. We emphasize, therefore, that SM can present clinical challenges and the presence of SM should cue clinicians to search for other coexisting autoimmune disorders that can have various outcomes.

Eosinophilic esophagitis in Saudi children: symptoms, histology and endoscopy results.

BACKGROUND/AIM: Eosinophilic esophagitis (EE) is a clinicopathologic entity characterized by esophageal symptoms in association with a dense eosinophilic infiltrate currently defined as >15 eosinophils per high power field in the appropriate clinical context. This is the first pediatric study in Saudi Arabia to give the experience with EE and examine its symptom, histology and endoscopy results. MATERIALS AND METHODS: Retrospective chart review of all patients diagnosed with EE at National Guard Hospital, Jeddah Between 2007 and 2009. The authors identified EE on histologic criteria (≥15 eosinophils per high-power field) together with their clinical context. The authors reviewed medical records for details of clinical presentation, laboratory data, radiologic, endoscopic, and histologic findings, and the results of treatment. RESULTS: We identified 15 patients in our database in the last three years. 100% of the patients were males. The median age at presentation was 10 years (range, 3-17 years). The commonly reported symptoms were failure to thrive (86%), epigastric abdominal pain (53%), poor eating (40%), dysphagia with solid food (26%), food impaction (13%), and vomiting (20%). Asthma was reported in 46% and allergic rhinitis in 40%. Peripheral eosinophilia (>0.7 Χ 10/l) was found in 66%. High serum IgE Level (>60 IU/ml) was found in 60%. Upper endoscopic analysis revealed esophageal trachealization in 46%, esophageal erythema in 46%, white specks on the esophageal mucosa in 33%, esophageal narrowing in 13%, and normal endoscopy in 13%. The mean eosinophils per high-power field was 30.4 (range, 20-71). Histologic characteristics included degranulated eosinophils (86%), basal cell hyperplasia (93%) and eosinophils clusters (micro-abscess) in 73%. The treatment of EE revealed that they used swallowed corticosteroid in 50%, proton pump inhibitors in 66%, elemental diet/ food elimination in 13% and systemic corticosteroid in 13%. CONCLUSIONS: Failure to thrive and abdominal pain in a male, atopic school-aged child was the most common feature of EE. Peripheral eosinophilia, high serum IgE and endoscopic esophageal erythema and trachealization should significantly raise the clinical index of suspicion for the diagnosis of EE.

Pulmonary hyalinizing granuloma. Bilateral pulmonary nodules associated with chronic idiopathic thrombocytopenic purpura.

We report a case of a 30-year-old female who had been treated periodically with steroids for idiopathic thrombocytopenic purpura ITP over the last 10 years. Recently, during the course of investigation, she was found to have incidental asymptomatic multiple pulmonary nodules on chest CT. Following a needle biopsy to exclude malignancy, 2 nodules were excised and were histologically confirmed as pulmonary hyalinizing granuloma PHG. The remaining 2 nodules regressed on increasing her dose of steroids. The case is discussed with emphasis on the histological and radiological differential diagnosis, in addition to including ITP among the spectrum of immunologic conditions associated with PHG.