ABSTRACT
BACKGROUND: Genetic mutations, peritoneal metastasis and frequent development of chemoresistance worsen the prognosis of ovarian carcinoma. OBJECTIVE: The objective of the study is to determine mutations in cancer susceptibility genes in relation with chemotherapy response. METHODS: In this follow up descriptive study, 47 consenting female patients diagnosed with surface epithelial ovarian cancer were observed for six months after completion of chemotherapy to see the treatment response. For genetic analysis, the DNA extraction was done and the genomic regions of different exons of BRCA1/2, PALB2, CHEK2, BAP1, CTNNB1, HOXB13, and PIK3CA were amplified using gene specific primers followed by Sanger Sequencing. RESULTS: 86.7% of the patients were sensitive to chemotherapy whereas 13.3% showed resistance. Genetic variants of BRCA1 in 7%, BRCA2 in 4.7%, PIK3CA in 9.3%, PALB2 in 7%, CHEK2 in 2.3%, BAP1 in 2.3%, and CTNNB1 in 2.3% of the patients were found. There was also a significant association between TNM stage and the treatment response (p< 0.01). Of the patients with no mutations, 90.9% showed chemosensitivity as opposed to 70% in mutations group. CONCLUSION: Our study exhibits the pivotal role of genetic analysis in predicting the treatment response and paving pathway for patient tailored targeted therapy in Pakistani population.
Subject(s)
Carcinoma , Ovarian Neoplasms , Humans , Female , Carcinoma, Ovarian Epithelial/genetics , Follow-Up Studies , Pakistan , Prognosis , Germ-Line Mutation , Ovarian Neoplasms/pathology , BRCA2 Protein/genetics , BRCA1 Protein/genetics , Genetic Predisposition to DiseaseABSTRACT
Posttransplantation lymphoproliferative disorders (PTLD) are lymphoid proliferations or lymphomas that develop as a result of immunosuppression in recipients of solid organs and bone marrow allografts. The disorder is seen in 1-2% of renal transplant recipients with a variable time period of presentation and is usually seen within the first year following transplantation. We report a case of B-cell lymphoma (PTLD WHO class-3) presenting with skin involvement in a patient of renal transplantation, 8 years after receiving the transplant.
