Medulloblastoma and familial adenomatous polyposis: Good prognosis and good quality of life in the long‐term?. Issue 4 (18th January 2021)

• Record Type: Journal Article
• Authors: Massimino, Maura; Signoroni, Stefano; Boschetti, Luna; Chiapparini, Luisa; Erbetta, Alessandra; Biassoni, Veronica; Schiavello, Elisabetta; Ferrari, Andrea; Spreafico, Filippo; Terenziani, Monica; Chiaravalli, Stefano; Puma, Nadia; Bergamaschi, Luca; Ricci, Maria Teresa; Cattaneo, Laura; Gattuso, Giovanna; Buttarelli, Francesca Romana; Gianno, Francesca; Miele, Evelina; Poggi, Geraldina; Vitellaro, Marco
• Is Part Of: Pediatric blood & cancer. Volume 68:Issue 4(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-01-18
• Subjects: APC -- FAP -- good prognosis -- secondary tumors -- WNT medulloblastoma; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.28912
• Languages: English
• ISSNs: 1545-5009

Abstract

Abstract: Introduction: Mutations of the APC (adenomatous polyposis coli) gene correlate mainly with familial adenomatous polyposis (FAP), but can occasionally be pathogenic for medulloblastoma (MBL) wingless‐related integration site (WNT) subtype, the course of which has only recently been described. Methods: We retrieved all patients with documented germline APC mutations and a diagnosis of MBL to examine their outcome, late effects of treatment, and further oncological events. Results: Between 2007 and 2016, we treated six patients, all with a pathogenic APC variant mutation and all with MBL, classic histotype. None had metastatic disease. All patients were in complete remission a median 65 months after treatment with craniospinal irradiation at 23.4 Gy, plus a boost on the posterior fossa/tumor bed up to 54 Gy, followed by cisplatin/carboplatin, lomustine, and vincristine for a maximum of eight courses. Five of six diagnostic revised MRI were suggestive of the WNT molecular subgroup typical aspects. Methylation profile score (in two cases) and copy number variation analysis (chromosome 6 deletion in two cases) performed on four of six retrieved samples confirmed WNT molecular subgroup. Four out of six patients had a positive family history of FAP, while gastrointestinal symptoms prompted its identification in the other two cases. Four patients developed other tumors (desmoid, MELTUMP, melanoma, pancreatoblastoma, thyroid Tir3) from 5 to 7 years after MBL. Discussion: Our data confirm a good prognosis for patients with MBL associated with FAP. Patients' secondary tumors may or may not be related to their syndrome or treatment, but warrant adequate attention when planning shared guidelines for these patients.