Dyskeratosis Congenita is a severe disorder that involves several systems in the human body and is well-known for its transmission hereditarily through generations. The triad of a) reticular atrophy of the skin with pigmentation b) dystrophy of the nails c) leukoplakia of the oral mucosa characterises this uncommon disorder, which most commonly affects men. One of the key reasons for premature death in this disease is malignant transformation within areas of mucosal hyperkeratosis. In Dyskeratosis Congenita, the simultaneous existence of squamous cell carcinoma (SCC) with lichen planus and or lichenoid reactions in the mucosa of the oral cavity is a rare, stated condition. This report discusses a case of a Libyan male patient affected by Dyskeratosis Congenita that ended with buccal mucosal squamous cell carcinoma developed on a lichen planus background after thirty years of suffering at the age of 64.
Mesenchymal-epithelial transition exon 14 (METex14) skipping mutations occur in about 3%-4% of patients with non-small cell lung cancer (NSCLC). This is an aggressive subtype associated with poor prognosis. METex14 skipping is a potentially targetable mutation. Targeted therapy is a promising treatment modality for patients with advanced/metastatic METex14-mutant NSCLC. Performing systematic molecular testing to detect the driver mutation is essential for initiating targeted therapy. However, there is a lack of guidelines on molecular testing for assessing the eligibility of patients for targeted therapy. Therefore, a multidisciplinary panel consisting of experts from the Middle East, Africa, and Russia convened via a virtual advisory board meeting to provide their insights on various molecular testing techniques for the diagnosis of METex14 skipping mutation, management of patients with targeted therapies, and developing consensus recommendations for improving the processes. The expert panel emphasized performing molecular testing and liquid biopsy before treatment initiation and tissue re-biopsy for patients with failed molecular testing. Liquid biopsy was recommended as complementary to tissue biopsy for disease monitoring and prognosis. Selective MET inhibitors were recommended as the first and subsequent lines of therapy. These consensus recommendations will facilitate the management of METex14 skipping NSCLC in routine practice and warrant optimum outcomes for these patients.
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