Case Report: Differential Genomics and Evolution of a Meningeal Melanoma Treated With Ipilimumab and Nivolumab

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Autores organización

  • Andres Felipe Cardona Mendoza

    Autor

  • Luis Leonardo Rojas Beltran

    Autor

Autores

  • Burgos R
  • Santoyo N
  • Ruiz-Patiño A
  • Cure-Casilimas J
  • Ricaurte L
  • Muñoz Á
  • Garcia-Robledo JE
  • Ordoñez C
  • Sotelo C
  • Rodríguez J
  • Zatarain-Barrón ZL
  • Pineda D
  • Arrieta O

Grupos de investigación

Resumen

Primary melanocytic tumors of the CNS are extremely rare conditions, encompassing different disease processes including meningeal melanoma and meningeal melanocytosis. Its incidence range between 3-5%, with approximately 0.005 cases per 100,000 people. Tumor biological behavior is commonly aggressive, with poor prognosis and very low survivability, and a high recurrence rate, even after disease remission with multimodal treatments. Specific genetic alterations involving gene transcription, alternative splicing, RNA translation, and cell proliferation are usually seen, affecting genes like BRAF, TERT, GNAQ, SF3B1, and EIF1AX. Here we present an interesting case of a 59-year-old male presenting with neurologic symptoms and a further confirmed diagnosis of primary meningeal melanoma. Multiple therapy lines were used, including radiosurgery, immunotherapy, and chemotherapy. The patient developed two relapses and an evolving genetic makeup that confirmed the disease’s clonal origin. We also provide a review of the literature on the genetic basis of primary melanocytic tumors of the CNS. Copyright © 2022 Burgos, Cardona, Santoyo, Ruiz-Patiño, Cure-Casilimas, Rojas, Ricaurte, Muñoz, Garcia-Robledo, Ordoñez, Sotelo, Rodríguez, Zatarain-Barrón, Pineda and Arrieta.

Copyright © 2022 Burgos, Cardona, Santoyo, Ruiz-Patiño, Cure-Casilimas, Rojas, Ricaurte, Muñoz, Garcia-Robledo, Ordoñez, Sotelo, Rodríguez, Zatarain-Barrón, Pineda and Arrieta.

Datos de la publicación

ISSN/ISSNe:
2234-943X, 2234-943X

Frontiers In Oncology  Frontiers Media S.A.

Tipo:
Article
Páginas:
691017-691017
Enlace a otro recurso:
www.scopus.com

Citas Recibidas en Web of Science: 3

Citas Recibidas en Scopus: 3

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Keywords

  • B Raf kinase; initiation factor 1A; ipilimumab; Ki 67 antigen; melan A; microphthalmia associated transcription factor; monoclonal antibody HMB 45; nivolumab; prednisone; protein S 100; temozolomide; transcription factor Sox10; adult; alternative RNA splicing; apoptosis; Article; ataxia; BRAF gene; brain decompression; brain hemorrhage; brain hernia; brain histology; cancer chemotherapy; cancer immunotherapy; case report; chromosome 1p; chromosome 20; chromosome 3; chromosome 6q; chromosome 8q; clinical article; comparative genomic hybridization; differential genomics; drug dose reduction; dysmetria; edema; EIF1AX gene; evolution; eye melanoma; gait disorder; GD15D gene; gene; gene mutation; genetic transcription; genomics; GNAQ gene; headache; hematoma; hepatitis; high throughput sequencing; human; human tissue; immunohistochemistry; male; maximum standardized uptake value; melanoma; meningeal melanoma; microsatellite instability; middle aged; monosomy; morbidity; multiple cycle treat

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