Schwannomas, or neurinomas, are generally benign, slow-growing, asymptomatic neoplasms originating from the Schwann cells of a nerve sheath. As a part of spindle cell mesenchymal tumours, schwannomas arising from the gastrointestinal tract (GIT) are unusual; however, when they occur, the most common site involved is the stomach, which represents 0.2% of all gastric tumours. We report the case of a 35-year-old female patient with a history of pulmonary tuberculosis presenting with a large palpable abdominal mass reaching up to the peritoneal cavity. The initial clinical impression was a tuberculous abdominal mass, a cyst, or a teratoma. However, intra-operative findings during a subtotal gastrectomy revealed an exophytic gastric serosal mass, which suggested a gastrointestinal stromal tumour (GIST). Post-operative histopathological findings showed a fascicular arrangement of neoplastic spindle cells with pallisading nuclei that showed intense positivity for S-100 protein, and were negative for CD117 and desmin in immunohistochemistry studies. These results confirmed the final diagnosis of a gastric schwannoma.

Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder presenting with loss of pain sensation, thermal sensation defects, and self-mutilating behavior. In the present study, we recruited two consanguineous pedigree showing pain insensitivity symptoms from Pakistan for clinical and molecular investigations. In family A, one female patient displayed classical CIPA symptoms along with microcephaly and severe intellectual disability. During course of the disease, her right foot was amputated and had remarkable dental degeneration and teeth shedding. In family B, one boy presented with classical symptoms of congenital insensitivity to pain with anhidrosis. Blood was collected from both families for molecular studies. Sequencing with the Ilumina Trusight One Sequencing Panel covering 4813 OMIM genes revealed a known homozygous mutation c.2084C>T; p.P695L of NTRK1 in family A and a novel truncated mutation c.2025C>G; p.Y681X in family B. Protein modeling analysis of both mutations (p.P695L and p.Y681X) predicted loss of the rigidity in tyrosine kinase domain of NTRK1 that led to conformational changes as well as deleterious effect on protein function. The known mutation was reported more than a decade ago in a family from Northern Israel and other non-sense mutation is newly identified. It is interested that most of NTRK1 mutations are associated with this domain. This is first ever report of NTRK1 variants in congenital insensitivity to pain with anhidrosis patients from Pakistan.
Pain Insensitivity, Congenital

For the development of 19-plex Y STR system and polymorphism studies in locl ethnic populations sixteen markers of non-recombining regions (NRY) of Y chromosome, which show high power of discrimination among individuals, were selected in this study. Blood samples (600) were e.ollected from the males of three most common castes of Pakistani population (Arnin, Awan and Rajput) with different parent lineages. Three markers (DYS385a/b, DYS389Ⅰ/Ⅱ and YCAⅡa/b) among 16 Y STRs are double-targeted regions of the Y chromosome and thus provide two polymorphie peaks for each respective primer set. These 16 Y-STRs were developed into Megaplex system for simultaneous amplification of all markers within the population. The overall power of discrimination observed in focused populations was 60.5%, 66.5% and 55% in Rajput, Awan and Arain casts respectively. This discrimination power will be helpful in haman identification for forensic casework studies including sexual assaults and paternity testing.