Clinical, histological, and molecular features of gliomas in adults with neurofibromatosis type 1 Journal Article
| Authors: | Romo, C. G.; Piotrowski, A. F.; Campian, J. L.; Diarte, J.; Rodriguez, F. J.; Bale, T. A.; Dahiya, S.; Gutmann, D. H.; Lucas, C. H. G.; Prichett, L.; Mellinghoff, I.; Blakeley, J. O. |
| Article Title: | Clinical, histological, and molecular features of gliomas in adults with neurofibromatosis type 1 |
| Abstract: | Background: People with NF1 have an increased prevalence of central nervous system malignancy. However, little is known about the clinical course or pathologic features of NF1-associated gliomas in adults, limiting clinical care and research. Methods: Adults (≥18 years) with NF1 and histologically confirmed non-optic pathway gliomas (non-OPGs) at Johns Hopkins Hospital, Memorial Sloan Kettering Cancer Center, and Washington University presenting between 1990 and 2020 were identified. Retrospective data were collated, and pathology was reviewed centrally. Results: Forty-five patients, comprising 23 females (51%), met eligibility criteria, with a median of age 37 (18-68 years) and performance status of 80% (30%-100%). Tissue was available for 35 patients. Diagnoses included infiltrating (low-grade) astrocytoma (9), glioblastoma (7), high-grade astrocytoma with piloid features (4), pilocytic astrocytoma (4), high-grade astrocytoma (3), WHO diagnosis not reached (4) and one each of gliosarcoma, ganglioglioma, embryonal tumor, and diffuse midline glioma. Seventy-one percent of tumors were midline and underwent biopsy only. All 27 tumors evaluated were IDH1-wild-type, independent of histology. In the 10 cases with molecular testing, the most common genetic variants were NF1, EGFR, ATRX, CDKN2A/B, TP53, TERT, and MSH2/3 mutation. While the treatments provided varied, the median overall survival was 24 months [2-267 months] across all ages, and 38.5 [18-109] months in individuals with grade 1-2 gliomas. Conclusions: Non-OPGs in adults with NF1, including low-grade tumors, often have an aggressive clinical course, indicating a need to better understand the pathobiology of these NF1-associated gliomas. © The Author(s) 2023. |
| Keywords: | immunohistochemistry; adult; controlled study; treatment outcome; aged; survival analysis; retrospective studies; overall survival; genetics; clinical feature; histopathology; bevacizumab; temozolomide; brain tumor; follow up; glioma; brain neoplasms; ki 67 antigen; neurofibromatosis 1; epidermal growth factor receptor; cohort analysis; vincristine; tumor biopsy; pathology; retrospective study; necrosis; protein p53; histology; lomustine; procarbazine; central nervous system tumor; karnofsky performance status; disease progression; glioblastoma; telomerase reverse transcriptase; cyclin dependent kinase inhibitor 2a; kaplan meier method; astrocytoma; gliosarcoma; embryonal tumor; disease exacerbation; isocitrate dehydrogenase 1; complication; cyclin dependent kinase inhibitor 2b; neurofibromatosis type 1; pilocytic astrocytoma; high throughput sequencing; protein msh3; humans; human; male; female; article; central nervous system cancer; diffuse midline glioma; transcriptional regulator atrx; dna mismatch repair protein msh2; non-optic pathway glioma; non optic pathway glioma |
| Journal Title: | Neuro-Oncology |
| Volume: | 25 |
| Issue: | 8 |
| ISSN: | 1522-8517 |
| Publisher: | Oxford University Press |
| Date Published: | 2023-08-01 |
| Start Page: | 1474 |
| End Page: | 1486 |
| Language: | English |
| DOI: | 10.1093/neuonc/noad033 |
| PUBMED: | 36840626 |
| PROVIDER: | scopus |
| PMCID: | PMC10398805 |
| DOI/URL: | |
| Notes: | The MSK Cancer Center Support Grant (P30 CA008748) is acknowledged in the PubMed record and PDF -- Source: Scopus |
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