Neurofibromatosis type II

Neurofibromatosis type II is an inherited tumor-predisposition disorder, usually caused by pathogenic variants in NF2, that can produce schwannomas, meningiomas, and other nervous-system tumors.

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Merlin (protein): Merlin is a tumor-suppressor protein encoded by NF2 that regulates cell growth and signaling. NF2 variants impair merlin, the protein central to this disorder’s tumor biology.
Bilateral vestibular schwannoma: A bilateral vestibular schwannoma is a benign tumor affecting both vestibular nerves, which carry balance information to the brain. These tumors are a defining feature and often cause progressive hearing loss.
Schwannoma: A schwannoma is a usually benign tumor arising from Schwann cells that form myelin around peripheral nerves. Schwannomas of vestibular nerves are the hallmark tumors in this disorder.
Neurofibromatosis type I: Neurofibromatosis type I is an inherited disorder commonly marked by café-au-lait spots, neurofibromas, and variants in NF1. Despite the similar name, it has a different gene, tumor profile, and clinical course.
NF2: NF2 is a tumor-suppressor gene on chromosome 22 that encodes merlin. Pathogenic variants in this gene cause most cases of the disorder.
Audiometry: Audiometry is the measurement of hearing sensitivity across sound frequencies and intensities. Hearing tests track the effects of vestibular schwannomas and guide rehabilitation.
Meningioma: A meningioma is a tumor arising from the membranes surrounding the brain and spinal cord. Multiple meningiomas can accompany NF2-related schwannomas.
Schwannomatosis: Schwannomatosis is a group of disorders characterized mainly by multiple schwannomas, often without bilateral vestibular schwannomas. It can resemble NF2-related disease but is defined by different clinical and genetic patterns.
Two-hit hypothesis: The two-hit hypothesis explains tumor formation through loss of both functional copies of a tumor-suppressor gene. Inherited NF2 variants provide one hit; tumor cells commonly acquire another.
Magnetic resonance imaging: Magnetic resonance imaging uses magnetic fields and radio waves to produce detailed images of internal structures. MRI can detect and monitor tumors throughout the brain and spinal cord.