loading page

Medulloblastoma and Familial Adenomatous Polyposis: good prognosis and good quality of life in the long-term?
  • +13
  • Maura Massimino,
  • Stefano Signoroni,
  • Luna Boschetti,
  • Veronica Biassoni,
  • Elisabetta Schiavello,
  • Andrea Ferrari,
  • Stefano Chiaravalli,
  • Nadia Puma,
  • Luca Bergamaschi,
  • Maria Teresa Ricci,
  • laura cattaneo,
  • Giovanna Gattuso,
  • Francesca Buttarelli,
  • Francesca Gianno,
  • geraldina poggi,
  • Marco Vitellaro
Maura Massimino
Istituto Nazionale Tumori

Corresponding Author:[email protected]

Author Profile
Stefano Signoroni
Fondazione IRCCS Istituto Nazionale dei Tumori
Author Profile
Luna Boschetti
Fondazione IRCCS Istituto Nazionale dei Tumori
Author Profile
Veronica Biassoni
Fondazione IRCCS Istituto Nazionale Tumori
Author Profile
Elisabetta Schiavello
Fondazione IRCCS Istituto Nazionale Tumori
Author Profile
Andrea Ferrari
Istituto Nazionale Tumori, Milano
Author Profile
Stefano Chiaravalli
Istituto Nazionale Tumori, Milano
Author Profile
Nadia Puma
Fondazione IRCCS Istituto Nazionale Tumori Milano
Author Profile
Luca Bergamaschi
Fondazione IRCCS Istituto Nazionale dei Tumori
Author Profile
Maria Teresa Ricci
Fondazione IRCCS Istituto Nazionale dei Tumori
Author Profile
laura cattaneo
Fondazione IRCCS Istituto Nazionale dei Tumori
Author Profile
Giovanna Gattuso
Fondazione IRCCS Istituto Nazionale dei Tumori
Author Profile
Francesca Buttarelli
UniversitĂ  La Sapienza
Author Profile
Francesca Gianno
Sapienza University of Rome
Author Profile
geraldina poggi
IRCCS Eugenio Medea
Author Profile
Marco Vitellaro
Fondazione IRCCS Istituto Nazionale dei Tumori
Author Profile

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) WNT subtype as well, the course of which has only recently been described. Methods. We retrospectively retrieved all patients with documented germline APC mutations and a centrally-reviewed diagnosis of MBL to examine the outcome of their MBL, late effects of its treatment, and further oncological events. Results. Between 2007-2016 we diagnosed and treated 6 patients, all with a pathogenic APC variant mutation, who all had 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 8 courses. Five of 6 diagnostic revised MRI were suggestive of the WNT molecular subgroup typical aspects. Four of 6 patients had a positive family history of FAP, while gastrointestinal symptoms prompted its identification in the other 2 cases. Four patients had 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.
03 Sep 2020Submitted to Pediatric Blood & Cancer
03 Sep 2020Submission Checks Completed
03 Sep 2020Assigned to Editor
04 Sep 2020Reviewer(s) Assigned
02 Nov 2020Review(s) Completed, Editorial Evaluation Pending
03 Nov 2020Editorial Decision: Revise Minor
23 Dec 2020Submission Checks Completed
23 Dec 2020Assigned to Editor
23 Dec 20201st Revision Received
24 Dec 2020Reviewer(s) Assigned
05 Jan 2021Review(s) Completed, Editorial Evaluation Pending
05 Jan 2021Editorial Decision: Accept
18 Jan 2021Published in Pediatric Blood & Cancer. 10.1002/pbc.28912