Mutational Analysis of EGFR Mutations in Non-Small Cell Lung Carcinoma-An Indian Perspective of 212 Patients.

Lung cancer is the world's leading cause of cancer-related deaths. Epidermal growth factor receptor (EGFR) is one of the critical oncogenes and plays a significant role in tumor proliferation and metastasis. Patients with sensitizing mutations in the EGFR gene have better clinical outcomes when treated with tyrosine kinase inhibitors (TKI). This study expands our knowledge of the spectrum of EGFR mutations among lung cancer patients in the Indian scenario. This is a retrospective descriptive study of all newly diagnosed patients with lung cancer in tertiary care hospital in India. All the samples were subjected to real-time PCR (q-PCR) analysis and confirmation of rare novel mutations was done using Sanger sequencing. Clinicopathological characteristics, mutational EGFR status, and location on the exon and metastatic sites were evaluated. An analysis of total 212 samples showed mutations in 38.67% of cases. Among these, five (5.9%) samples had mutations in exon 18, 41 (48.8%) samples had mutations in exon 19, 12 (14.28%) samples had mutations in exon 20, and 26 (30.95%) samples had mutations in exon 21. Eleven (13.41%) were found to be uncommon EGFR mutations. Additionally, six (21.4%) samples that had EGFR mutations were also positive for brain metastasis. Future testing on bigger panels will help to characterize the incidence of genetic mutations and to determine the appropriate targeted treatment choices for NSCLC patients.

Squamous cell carcinoma arising from congenital lymphedema.

Congenital lymphedema is a rare type of primary lymphedema occurring at birth or developing shortly later. Primary lymphedema can be classified according to whether it is familial or sporadic. The primary congenital familial lymphedema is also known as Milroy's disease. Majority of primary cases are sporadic type. Chronic lymphedema can be secondary to infections, surgery with lymph node excision, trauma, lymphadenectomy, radiotherapy, filarial infection, and so on. It is recognized that a variety of malignant tumors can arise in chronic congenital or acquired lymphedema; the most documented associations are lymphangiosarcoma, basal cell carcinoma, lymphoma, malignant melanoma, and Kaposi's sarcoma. A total of 13 cases of squamous cell carcinoma arising from chronic (primary or acquired) lymphedema have been reported, and only 3 cases of congenital lymphedema presented with squamous cell carcinoma as reported. A 32-year-old young male presented with chronic unilateral left lower limb lymphedema of 28 years duration. In addition, he had a 3-month history of a fungating cutaneous lesion on the lateral side measuring 2 cm × 1 cm in size. Fine-needle aspiration cytology was performed on the later mass, and a diagnosis of angiosarcoma was made. At histopathology, the appearances did not confirm angiosarcoma. However, an impression of carcinoma was made as squamous cells were observed in sheets. Immunohistochemistry was performed using markers for CD31, factor VIII (FVIII), and MiB. The epithelial marker cytokeratin was positive for squamoid cells and MiB index of 75%. The vascular markers FVIII and CD31 were negative, thus ruling out angiosarcoma. The final diagnosis was given as infiltrating squamous cell carcinoma in chronic lymphedema.