STUDY DESIGN: A retrospective chart review. PURPOSE: In endemic resource poor countries like Pakistan, most patients are diagnosed and treated for Potts disease on clinical and radiological grounds without a routine biopsy. The purpose of this study was to evaluate the use and effect of computed tomography (CT)-guided biopsy in the management of Potts disease since the technique is becoming increasingly available. OVERVIEW OF LITERATURE: CT-guided biopsy of spinal lesions is routinely performed. Literature on the utility of the technique in endemic resource poor countries is little. METHODS: This study was conducted at the Neurosurgery section of Aga Khan University Hospital Karachi. All the patients with suspected Potts disease who underwent CT-guided biopsy during the 7 year period from 2007 to 2013 were included in this study. Details of the procedure, histopathology and microbiology were recorded. RESULTS: One hundred and seventy-eight patients were treated for suspected Potts disease during the study period. CT-guided biopsies of the spinal lesions were performed in 91 patients (51.12%). Of the 91 procedures, 22 (24.2%) were inconclusive because of inadequate sample (10), normal tissue (6) or reactive tissue (6). Sixty-nine biopsies were positive (75.8%). Granulomatous inflammation was seen in 58 patients (84.05%), positive acid-fast bacillus (AFB) smear in 4 (5.7%) and positive AFB culture in 12 patients (17.3%). All 91 cases in which CT-guided biopsy was performed responded positively to antituberculosis therapy (ATT). CONCLUSIONS: 75.8% of the specimens yielded positive diagnoses. Granulomatous inflammation on histopathology was the commonest diagnostic feature. In this series, the rates of positive AFB smear and culture were low compared to previous literature.
Bacillus ; Biopsy* ; Biopsy, Needle ; Developing Countries* ; Diagnosis ; Humans ; Inflammation ; Neurosurgery ; Pakistan ; Retrospective Studies ; Tuberculosis, Spinal*

PURPOSE: Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair. This is the first study assessing the prevalence of PALB2 mutations in early-onset and familial breast/ovarian cancer patients from Pakistan. MATERIALS AND METHODS: PALB2 mutation screening was performed in 370 Pakistani patients with early-onset and familial breast/ovarian cancer, who were negative for BRCA1, BRCA2, TP53, CHEK2, and RAD51C mutations, using denaturing high-performance liquid chromatography analysis. Mutations were confirmed by DNA sequencing. Novel PALB2 alterations were analyzed for their potential effect on protein function or splicing using various in silico prediction tools. Three-hundred and seventy-two healthy controls were screened for the presence of the identified (potentially) functional mutations. RESULTS: A novel nonsense mutation, p.Y743*, was identified in one familial breast cancer patient (1/127, 0.8%). Besides, four in silico-predicted potentially functional mutations including three missense mutations and one 5' untranslated region mutation were identified: p.D498Y, novel p.G644R, novel p.E744K, and novel c.-134_-133delTCinsGGGT. The mutations p.Y743* and p.D498Y were identified in two familial patients diagnosed with unilateral or synchronous bilateral breast cancer at the ages of 29 and 39, respectively. The other mutations were identified in an early-onset (≤ 30 years of age) breast cancer patient each. All five mutations were absent in 372 healthy controls suggesting that they are disease associated. CONCLUSION: Our findings show that PALB2 mutations account for a small proportion of early-onset and hereditary breast/ovarian cancer cases in Pakistan.
5' Untranslated Regions ; Breast Neoplasms ; Chromatography, Liquid ; Codon, Nonsense ; Computer Simulation ; DNA Repair ; Germ-Line Mutation ; Humans ; Mass Screening ; Mutation, Missense ; Pakistan ; Prevalence ; Sequence Analysis, DNA