Merlin

Synonyms

NF2 gene product; Schwannomin

Definition

Merlin is the protein product of the NF2 tumor suppressor gene. Germline mutations of the NF2 predispose affected individuals to the development of neurofibromatosis type 2, an autosomal dominant disorder that affects 1 in 33,000–40,000 people. Development of bilateral vestibular schwannomas is a hallmark of this NF2 syndrome; additional tumor types include schwannomas of other cranial, spinal, and cutaneous nerves, cranial and spinal meningiomas, as well as ependymomas and gliomas of the central nervous system. Biallelic inactivation of NF2 is also uniformly observed in sporadic vestibular schwannomas and in a large percentage of sporadic meningiomas. In addition, somatic genetic changes resulting in biallelic inactivation of NF2occur in about 50 % of malignant pleural mesotheliomas, which are mesodermally derived tumors unrelated to those found in the NF2 syndrome. Development of bilateral vestibular schwannomas is a hallmark of the...