Medulloblastoma and Familial Adenomatous Polyposis: good prognosis and
good quality of life in the long-term?
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.