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BACKGROUND: Breast cancer is the most common malignancy in women, affecting over 1.5 million women every year, which accounts for the highest number of cancer-related deaths in women globally. Hereditary breast cancer (HBC), an important subset of breast cancer, accounts for 5-10% of total cases. However, in Low Middle-Income Countries (LMICs), the population-specific risk of HBC in different ethnicities and the correlation with certain clinical characteristics remain unexplored. METHODS: Retrospective chart review of patients who visited the HBC clinic and proceeded with multi-gene panel testing from May 2017 to April 2020. Descriptive and inferential statistics were used to analyze clinical characteristics of patients. Fisher's exact, Pearson's chi-squared tests and Logistic regression analysis were used for categorical variables and Wilcoxon rank-sum test were used for quantitative variables. For comparison between two independent groups, Mann-Whitney test was performed. Results were considered significant at a p value of < 0.05. RESULTS: Out of 273 patients, 22% tested positive, 37% had a VUS and 41% had a negative genetic test result. Fifty-five percent of the positive patients had pathogenic variants in either BRCA1 or BRCA2, while the remaining positive results were attributed to other genes. Patients with a positive result had a younger age at diagnosis compared to those having a VUS and a negative result; median age 37.5 years, IQR (Interquartile range) (31.5-48). Additionally, patients with triple negative breast cancer (TNBC) were almost 3 times more likely to have a positive result (OR = 2.79, CI = 1.42-5.48 p = 0.003). Of all patients with positive results, 25% of patients had a negative family history of breast and/or related cancers. CONCLUSIONS: In our HBC clinic, we observed that our rate of positive results is comparable, yet at the higher end of the range which is reported in other populations. The importance of expanded, multi-gene panel testing is highlighted by the fact that almost half of the patients had pathogenic or likely pathogenic variants in genes other than BRCA1/2, and that our test positivity rate would have only been 12.8% if only BRCA1/2 testing was done. As the database expands and protocol-driven referrals are made across the country, our insight about the genetic architecture of HBC in our population will continue to increase.

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Malignancies of gastro-intestinal tract cause stricture formation that leads to intestinal obstruction. In such cases, either surgery or placement of self-expanding metallic stents (SEMS) are options of palliation. For left sided colorectal obstruction, SEMS have been widely used and reported. Luminal stenting is not always an easy task to perform because of altered anatomy of the surrounding structures, specially in the right side of colon and terminal ileum. SEMS placement, particularly in the ileocecal region, is technically difficult. Few studies on SEMS deployment in right sided colon have been reported till now. We report a case of metastatic signet ring cell carcinoma of rectosigmoid junction with malignant terminal ileal stricture palliation done with placement of SEMS.

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OBJECTIVE: To determine the age and stage of breast cancer in a tertiary care center in Karachi, Pakistan. METHODS: This retrospective, descriptive study was conducted at Breast Unit, Department of Surgery, Liaquat National Hospital Karachi, Pakistan. From 1994 to 2016 all biopsy-proven breast cancer patients were reviewed and their age and stage at presentation were noted . RESULTS: In the given time period 10, 018 patients with Breast cancer were registered. The most frequent age at diagnosis was in the fourth decade of life (28.51%). The majority of patients were diagnosed in stage 2 (47.26%) and only less than 4% were detected in stage 1. The stage of presentation did not differ between young and older age group of women. CONCLUSIONS: Breast cancer is diagnosed at a younger age group in Pakistan, at least a decade earlier than the west and at an advanced stage, commonest being stage 2.

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Posterior reversible encephalopathy syndrome (PRES), first introduced in 1996, is a neurotoxic state characterised by seizures, headache, vision change, paresis, nausea and altered mental status. Risk factors include hypertension, eclampsia/pre-eclampsia, infection/sepsis and cancer chemotherapy. Although exposure to toxic agents is a common occurrence in patients who develop PRES, oxaliplatin has rarely been associated with it, with only 10 cases reported worldwide. We present the case of an oxaliplatin-induced PRES in a 23-year-old male patient who was started on oxaliplatin/capecitabine as adjuvant chemotherapy for anal canal adenocarcinoma. The patient developed symptoms of headache, slurred speech and left-sided facial weakness on the ninth day after the first dose of oxaliplatin that lasted for 6-8 hours. The patient experienced another episode next day with similar symptoms that lasted for 8 hours. Oxaliplatin was withheld and the patient was discharged on capecitabine only. The patient had no new episodes since discharge on follow-up.

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Anaplastic thyroid cancer is the rarest tumour of the thyroid gland, representing only 2% of clinically recognised thyroid cancers. The most common metastatic sites are lungs, followed by the intrathoracic and neck lymph nodes. We report the case of a 62-year-old woman who presented to our setting with multiple soft tissue nodules, thyroid mass, head swelling and weight loss. Radiological investigation showed a large thyroid mass with widespread metastasis in subcutaneous tissues of both upper limbs, chest and abdomen. Metastasis was also found in lungs, skull and adrenal glands after which the patient was diagnosed with stage IVc anaplastic thyroid carcinoma (ATC). After careful consideration of patient's clinical condition with multiple poor prognostic factors, medical therapy was withheld and she was discharged on hospice care. The patient expired after 1 month. In ATC, metastasis to subcutaneous tissue is an extremely rare occurrence of which there is hardly any evidence in literature.

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We evaluated the potential utility of occult circulating tumor DNA as a molecular marker of disease in subjects previously diagnosed with breast cancer. Using 24 microsatellite markers located at sites of frequent loss of heterozygosity (LOH) or allele imbalance in breast cancer, we analyzed DNA from 16 primary tumors (Stage IIA or more advanced) and 30 longitudinally collected plasma specimens. Clinical data at the time of plasma collection were obtained. All 16 tumors were characterized by an individual pattern of LOH. LOH was detected in 12 of 30 (40%) plasma samples, taken from 8 of 14 (57%) subjects. However, the number of LOH in plasma was small (n = 15), and the mean proportion of LOH was much lower than in the tumors (0.05 vs. 0.52). Although infrequent, 12 of 15 (80%) plasma LOH were concordant with abnormalities in the paired tumors, and the mean percent LOH was higher than in normal plasmas, suggesting that they were authentic tumor-derived abnormalities. We found, despite this, no association, between plasma LOH and tumor stage or clinical status at time of blood collection (i.e., LOH was as common in subjects with no evident disease as in those with evident disease). In addition, detection of LOH was not consistent between serial samples from 5 of 11 subjects (45%), despite stable clinical conditions. No association with clinical outcome was evident, although the sample size was small. Microsatellite instability in plasma was infrequent, nonconcordant with paired tumor and inconsistent in serial samples. This pilot study suggests that identifying tumor-specific LOH in the plasma of breast cancer subjects may not be useful for detecting occult metastases or for monitoring disease. Other detection techniques may be more promising, but circulating tumor DNA may not be a sufficiently accurate reflection of breast cancer clinical status or tumor activity.

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