Histologically benign, clinically aggressive: Progressive non-optic pathway pilocytic astrocytomas in adults with NF1

Am J Med Genet A. 2016 Jun;170(6):1455-61. doi: 10.1002/ajmg.a.37622. Epub 2016 Mar 14.

Abstract

Although optic pathway gliomas are the most common brain tumors associated with neurofibromatosis type 1 (NF1), extra-optic gliomas occur and may behave more aggressively with outcomes that differ by age. A retrospective case-control study was designed to describe the clinical course of adult NF1 patients with progressive extra-optic pilocytic astrocytomas (PAs) and compare to a pediatric cohort. Data for patients treated at the Johns Hopkins Comprehensive Neurofibromatosis Center from 2003 to 2013 were reviewed to identify cases (adults, age >18) and controls (pediatric, age <18) with clinically or radiographically progressive extra-optic PAs. Demographic, clinical, histologic, and radiographic data were collected. Three adult NF1 cases and four pediatric NF1 controls were identified. Mean age was 32.3 ± 9.5 years, 66% male (cases); 12.8 ± 4.2 years, 100% male (controls). Symptomatic progression occurred in two-of-three adults (67%) while the majority of pediatric patients presented with isolated radiographic progression (n = 3, 75%). Onset tended to be more rapid in adults (4 ± 1 vs. 14 ± 8.3 months, P = 0.10). Subtotal resection was the treatment for all pediatric patients. Radiotherapy (n = 2), chemotherapy (n = 2), and targeted, biologic agents (n = 2) were administered in adults. Although all pediatric patients are living, outcomes were universally poor in adults with progression to death in all (median survival 17.1 months, range 6.6-30.3). In conclusion, despite grade I histology, all three adult NF1 patients with progressive extra-optic PAs suffered an aggressive clinical course which was not seen in pediatric patients. Clinicians should be aware of this clinico-histologic discrepancy when counseling and managing adult NF1 patients with progressive extra-optic PAs. © 2016 Wiley Periodicals, Inc.

Keywords: adult; brain tumor; extra-optic glioma; neurofibromatosis type 1; pediatric; pilocytic astrocytoma.

MeSH terms

  • Adult
  • Astrocytoma / diagnosis*
  • Astrocytoma / etiology*
  • Astrocytoma / mortality
  • Astrocytoma / therapy
  • Biopsy
  • Brain / pathology
  • Case-Control Studies
  • Combined Modality Therapy
  • Diagnostic Imaging
  • Disease Progression
  • Female
  • Humans
  • Male
  • Neoplasm Grading
  • Neurofibromatosis 1 / complications*
  • Neurofibromatosis 1 / diagnosis
  • Phenotype
  • Retrospective Studies
  • Treatment Outcome
  • Young Adult