P11.06 Metachronous adrenocortical carcinoma and gliosarcoma in patient with Li-Fraumeni Syndrome

• Published in: Neuro-oncology (Charlottesville, Va.) Va.), 2017-05, Vol.19 (suppl_3), p.iii92-iii92
• Main Authors: Guidi, M., Giunti, L.
• Format: Article
• Language: English
• Subjects: POSTER PRESENTATIONS
• ISSN: 1522-8517; 1523-5866
• DOI: 10.1093/neuonc/nox036.350

Introdution: Li-Fraumeni Syndrome (LFS) is an cancer susceptibility condition, characterized by an autosomal dominant transmission that increases an individuals risk of developing early synchronous and metachronous primary tumors. Classic LFS is associated with the development of sarcomas, diagnosed before 45 years of age with a first-degree relative with cancer before 45 years of age, and another close (first- or second-degree relative) with any cancer diagnosed under 45 years of age or with sarcoma at any age. The typical tumors include breast carcinoma, osteosarcoma soft tissue sarcomas, adrenocortical carcinoma (ACC), leukemias, CNS tumors and lung cancer. Classic LFS has an approximate frequency of 70% compare to whole cancer-predisposition syndromes. The only gene that has been consistently associated with LFS is TP53. Materials and Methods: In 1998 a 16-month-old female was evaluated for early puberty. Abdominal ultrasound demonstrated a lesion located at adrenal gland. The patient was subjected to resection of an ACC followed by therapy with mitotane and corticosteroid. In December 2014, the patient was admitted to our Hospital for an episode of loss of consciousness with generalized epileptic episodes. Cranial TC scans showed a right parietal lesion which was subsequently confirmed by a brain MRI. The patient underwent gross total removal of the lesion, without complications and good neurological improvement. Results: The histopathological diagnosis was gliosarcoma (WHO-grade IV).Cerebrospinal fluid (CSF) cytology was negative. The patient underwent radiotherapy for a total dose of 59,4 Gy (1.8 Gy/fraction) given with Volumetric Modulated Arc Therapy (VMAT). The radiotherapy was associated with concomitant and sequential chemotherapy with temozolomide, vinorelbine and valproic acid. The patient remains alive without evidence of recurrent disease 30 months after starting chemotherapy. She maintains a Karnofsky Performance Score of greater than 90. At the beginning oncologic family history was negative. After 5 years from this diagnosis, her father died from a leiomyosarcoma at the age of 40. In 2013 her brother died at 19-year-old from an acute myeloid leukemia. Interestingly, the paternal grandmother died at 60-year-old due to melanoma after a previously having breast cancer. The family history supported such a LFS. TP53 gene analysis of our patient showed the germ-line mutation c.796G>A (p.Gly266Arg) in heterozygous. Conclusion: The description of