RESUMO
234 diagnostic formalin-fixed paraffin-embedded (FFPE) blocks from homogeneously treated patients with locally advanced head and neck squamous cell carcinoma (HNSCC) within a multicentre phase III clinical trial were characterised. The mutational spectrum was examined by next generation sequencing in the 26 most frequent oncogenic drivers in cancer and correlated with treatment response and survival. Human papillomavirus (HPV) status was measured by p16INK4a immunohistochemistry in oropharyngeal tumours. Clinicopathological features and response to treatment were measured and compared with the sequencing results. The results indicated TP53 as the most mutated gene in locally advanced HNSCC. HPV-positive oropharyngeal tumours were less mutated than HPV-negative tumours in TP53 (p < 0.01). Mutational and HPV status influences patient survival, being mutated or HPV-negative tumours associated with poor overall survival (p < 0.05). No association was found between mutations and clinicopathological features. This study confirmed and expanded previously published genomic characterization data in HNSCC. Survival analysis showed that non-mutated HNSCC tumours associated with better prognosis and lack of mutations can be identified as an important biomarker in HNSCC. Frequent alterations in PI3K pathway in HPV-positive HNSCC could define a promising pathway for pharmacological intervention in this group of tumours.
Assuntos
Mutação , Carcinoma de Células Escamosas de Cabeça e Pescoço/genética , Ensaios Clínicos como Assunto , Estudos de Coortes , Feminino , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Infecções por Papillomavirus , Fosfatidilinositol 3-Quinases/metabolismo , Prognóstico , Transdução de Sinais , Carcinoma de Células Escamosas de Cabeça e Pescoço/mortalidade , Taxa de SobrevidaAssuntos
Carcinoma in Situ/patologia , Linfoma Folicular/patologia , Melanoma/patologia , Neoplasias Primárias Múltiplas/patologia , Neoplasias Cutâneas/patologia , Axila , Carcinoma in Situ/diagnóstico , Feminino , Humanos , Linfonodos/patologia , Linfoma Folicular/diagnóstico , Melanoma/diagnóstico , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/diagnóstico , Biópsia de Linfonodo Sentinela , Neoplasias Cutâneas/diagnósticoRESUMO
INTRODUCTION: The scapula is one of the most common locations for chondrosarcomas. They may have a primary or secondary origin, and they can be due to a degeneration of benign lesions or be secondary to radiotherapy. The surgical treatment presents good survival rates, if safety margins are preserved. PRESENTATION OF CASE: We present the case of a chondrosarcoma of the scapula secondary to a radiodermatitis that required a modified total scapulectomy with a latissimus dorsi flap. DISCUSSION AND CONCLUSION: Operations that respect or try to preserve the function of the upper limb must be taken into consideration in tumors of the pectoral girdle.