Gliomas in the context of Li-Fraumeni syndrome: An international cohort.

Medientyp: E-Artikel

Titel: Gliomas in the context of Li-Fraumeni syndrome: An international cohort

Beteiligte: Michaeli, Orli; Tabori, Uri; Schiffman, Joshua David; Naumer, Anne; Kohlmann, Wendy; Evans, D. Gareth; Forde, Claire; Hoffman, Lindsey Marie; Rednam, Surya P; Maxwell, Kara Noelle; Bornhorst, Miriam; O'Neill, Allison Frances; Nichols, Kim; Villani, Anita; Slavin, Thomas Paul; Caspi, Shani; Zelcer, Shayna M.; Leary, Sarah; Stasi, Shannon M; Malkin, David

Erschienen: American Society of Clinical Oncology (ASCO), 2019

Sprache: Englisch

DOI: 10.1200/jco.2019.37.15_suppl.1517

ISSN: 1527-7755; 0732-183X

Schlagwörter: Cancer Research ; Oncology

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Beschreibung: 1517 Background: Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with germline mutation in the TP53 tumor suppressor gene. As a result of increased awareness and surveillance imaging, more asymptomatic low-grade brain lesions are being identified, raising important questions regarding the management of those patients. Sporadic low-grade gliomas (LGG) in the pediatric age rarely transform to malignant lesions, whereas the prognosis of high-grade gliomas (HGG) is grim in all age groups. Although HGG is a hallmark of LFS, little is known of the natural history of these lesions in this syndrome. Methods: For this multi-institutional retrospective study, anonymized clinicopathologic data from TP53 mutation carriers with gliomas were collected and analysed. Results: Our cohort included 61 patients, of whom 71% (n = 45) were children or young adults (age < 25 years). 39% of patients with known family history of cancer had a close relative with a brain tumor. Of 31 patients with low grade lesions at presentation, 83% (n = 26) were identified through surveillance. Five-year progression free survival (PFS) for these patients was 48%, though two patients progressed later. Furthermore, at 5 years 25% of these patients had biopsy proven malignant transformation to HGG. This “transformation free survival” rate did not plateau, as at 7 years 56% of patients transformed. When considering death from a brain tumor, the 5- and 10- year overall survival (OS) for the LGG group was 100% and 83%, respectively. Additional 3 patients succumbed to other LFS related malignancies. For the HGG group, consisting of 30 patients, the 5 year OS was 35% (median follow-up 19.5 months), comparing favorably with the sporadic HGG population as reported in the literature. Almost all of these patients presented with clinical symptoms. Notably, 12 (40%) of them had a prior malignancy. Conclusions: Our analysis suggests that the risk of transformation of LGG in the setting of LFS is high and warrants ongoing surveillance. Interestingly, there are a considerable number of long- term survivors in our HGG group, although the median follow up is still short. Further study to examine potential genotype- phenotype correlations in germline TP53 mutation carriers will inform strategies to identify those patients at highest risk of glioma progression.

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