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- Title
Occurrence and characterization of medulloblastoma in a patient with Curry‐Jones syndrome.
- Authors
Porath, Binu; Farooki, Sana; Gener, Melissa; Amudhavalli, Shivarajan Manickavasagam; Grote, Lauren; Cooley, Linda D.; Ginn, Kevin; Farooqi, Midhat S.
- Abstract
Benign and malignant neoplasms in CRJS have been noted, but only one patient thus far has presented with desmoplastic medulloblastoma, and the tumor's histologic and genetic features were not further enumerated.[3] Here, we describe a second patient with desmoplastic medulloblastoma associated with CRJS. Targeted therapy for patients with CRJS would be beneficial, but mouse studies of current SMO inhibitors show association with permanent defects in bone development.[6] Ongoing research of SHH pathway inhibitors could hold exciting potential for treatment of medulloblastoma and CRJS patients, decreasing long-term sequelae of conventional management. Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway.
- Subjects
BASAL cell nevus syndrome; SYNDROMES; EYELIDS
- Publication
Clinical Genetics, 2020, Vol 97, Issue 4, p670
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13681