A novel frameshift mutation in the MLH1 gene in a patient with Lynch syndrome

A novel mutation in the MLH1 gene likely to be pathogenic for Lynch syndrome was discovered in a proband with a family history of colon cancer. Immunohistochemistry showed negative expression of PMS2 and MLH1 in the resected tumor sample. The mutation lies at the highly conserved C-terminus of the MLH1 protein, the region through which it dimerizes with PMS2 to carry out its mismatch repair function.

Laryngeal Myxoma: Emergency Management.

A 65-year-old male presented with stridor and dysphonia in emergency clinic of Govt. CIMS Medical College, Bilaspur, Chhattisgarh. Indirect laryngoscopic examination revealed a polypoidal lesion in glottic chink. CT scan evaluation confirmed the findings of clinical examination. Patient was relived of symptoms after emergency tracheotomy followed by surgical removal of polypoidal lesion from right vocal cord by microlaryngeal surgery. Histopathological examination revealed myxoma. Clinical examination after 8 months showed significant improvement in hoarseness of voice with no evidence of recurrence of lesion.