Dados do Trabalho

Título

Desmoplasic-Nodular Medulloblastoma and Gorlin Syndrome: three case reports and literature review.

Resumo

Introduction: Medulloblastoma (MB) is the most common malignant brain tumor in children less than 4 years of age. Half to two-thirds of infant medulloblastoma are SHH-driven tumors and around 20% of these patients may present with Gorlin Syndrome (GS), a rare hereditary multisystem disorder caused by mutations in PTCH1 or SUFU. Molecular profiling classified the Gorlin-associated medulloblastomas into the new consensus SHH molecular subgroup. Case Reports: We describe three cases diagnosed with infant desmoplastic/nodular medulloblastoma (DNMB) and concurrent GS. All of them were evaluated by a clinical geneticist and have syndromic characteristics, and have family history of basal cell carcinoma and syndromic characteristics of Gorlin. One of the patients have germline pathogenic variant in SUFU gene, inherited from this mother. As the long-term deleterious consequences of radiotherapy are well established, especially at this young age, all of them were treated with intensive myeloablative chemotherapy with autologous stem cell rescue. The patient with medulloblastoma and germline SUFU mutation was treated with tandem strategy due to the inferior outcomes described in these patients. Recurrence occurred in one case despite intensive therapy, currently alive without disease following salvage therapy with chemo and craniospinal irradiation. Conclusion: Children with infant medulloblastoma should be screened for clinical characteristics of Gorlin syndrome if tumor testing for changes in the SHH pathway is not available. If there is a clinical suspicion of Gorlin syndrome, the patient should be referred to genetic for evaluation and multidisciplinary follow-up, to better treatment strategies and outcomes.

Área

Neuro-oncologia