Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.

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.

Self-expanding Metallic Stent Placement in Malignant Terminal Ileal Stricture.

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.

Age and stage of breast cancer in Pakistan: An experience at a tertiary care center.

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 .

Oxaliplatin-induced posterior reversible encephalopathy syndrome (PRES).

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.

Anaplastic carcinoma of thyroid gland with widespread soft tissue metastasis: an unusual presentation.

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.

Loss of heterozygosity in serial plasma DNA samples during follow-up of women with breast cancer.

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.