SciELO - Scientific Electronic Library Online

 
vol.4 issue2BREAKING PARADIGMS, NEW BREAST CANCER REHABILITATION METHODS FROM OCCUPATIONAL THERAPY: CASE REPORTMULTIPLE MYELOMA AND LIGHT-CHAIN AMYLOIDOSIS: A RARE PRESENTATION author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

  • On index processCited by Google
  • Have no similar articlesSimilars in SciELO
  • On index processSimilars in Google

Share


Case reports

Print version ISSN 2462-8522

Abstract

ZUNIGA-CERON, Luisa Fernanda; SAAVEDRA-TORRES, Jhan Sebastián; ZAMORA-BASTIDAS, Tomás Omar  and  PINZON FERNANDEZ, María Virginia. GLIOSARCOMA IN A YOUNG PATIENT WITH NEUROFIBROMATOSIS TYPE 1. CASE REPORT. Case reports [online]. 2018, vol.4, n.2, pp.91-98. ISSN 2462-8522.  https://doi.org/10.15446/cr.v4n2.68234.

Introduction:

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that has variable phenotypic expressivity, with manifestations ranging from cutaneous lesions to functional compromise. It manifests clinically during childhood and adolescence. The NF-1 gene encodes a protein, neurofibromin gene, which acts as a tumor suppressor under normal conditions by regulating another protein that stimulates cell growth and proliferation. In case of alteration, different tumor processes may occur, such as the one seen in a small number of cases.

Case presentation:

20-year-old male patient with NF1, who presented café-au-lait spots and developed a glioblastoma, which happens infrequently.

Discussion:

Immunohistochemistry methods that contribute greatly to prognosis are included to achieve the confirmed diagnosis since the median overall survival of glioblastoma patients is higher in patients with NF1 than in those without said pathological entity.

Conclusion:

The early diagnosis of the lesions favors a timely management of NF1. These patients require a comprehensive and interdisciplinary management to achieve full rehabilitation.

Keywords : Neurofibromatosis 1; Gliosarcoma; Glioblastoma; Neurofibroma.

        · abstract in Spanish     · text in English     · English ( pdf )