{"id":10162,"date":"2025-05-05T07:32:34","date_gmt":"2025-05-05T07:32:34","guid":{"rendered":"https:\/\/www.kauveryhospital.com\/ima-journal\/?p=10162"},"modified":"2025-05-14T09:24:35","modified_gmt":"2025-05-14T09:24:35","slug":"tumors-at-every-corner-unraveling-an-nf2-mystery","status":"publish","type":"post","link":"https:\/\/www.kauveryhospital.com\/ima-journal\/ima-journal-may-2025\/tumors-at-every-corner-unraveling-an-nf2-mystery\/","title":{"rendered":"Tumors at Every Corner: Unraveling an NF2 Mystery"},"content":{"rendered":"

[vc_section][vc_row][vc_column][vc_column_text]<\/p>\n

\"Tumors<\/figure>\n

Case Report:<\/strong><\/h2>\n

A 26-year-old male presented with a 3-year history of dysphagia, along with intermittent neck stiffness, giddiness, and neck pain persisting over the past 2 years.<\/p>\n

Initial investigations included MRI brain and spine, which revealed:<\/p>\n

Posterior fossa:<\/strong> A solid-cystic lesion at the level of the fourth ventricle with proximal
\nhydrocephalus, suggestive of an ependymoma.<\/p>\n

Cerebellopontine angles:<\/strong> Bilateral heterogeneous lesions with internal auditory canal
\n(IAC) extension, likely vestibular schwannomas.<\/p>\n

Cervical spine:<\/strong> T2-weighted\/STIR hyperintensity at C2-C3 level consistent with cord edema.<\/p>\n

Thoracic spine:<\/strong> STIR hyperintense lesion at the D1-D2 level in the left paravertebral region, possibly a neurogenic tumor.<\/p>\n

Cauda equina:<\/strong> Multiple small T2 hypointense lesions with homogeneous enhancement, consistent with schwannomas.<\/p>\n

\"Tumors<\/figure>\n
\"Tumors<\/figure>\n

The patient’s initial presentation with hydrocephalus warranted urgent CSF diversion. A left ventriculoperitoneal (VP) shunt was placed and postoperative MRI suggested effective CSF decompression.<\/p>\n

The patient was subsequently shifted to the ICU due to desaturation. A CT chest revealed multifocal scattered patchy consolidation, ground-glass opacities with ill defined centrilobular nodules in both lung fields, Prominent subcentimeter mediastinal lymphadenopathy was also noted.Recurrent aspiration prompted ENT and speech therapy evaluations which revealed bilateral vocal cord paralysis.<\/p>\n

Following neurosurgical review, the patient underwent midline suboccipital craniectomy and total excision of the posterior fossa tumor with
\ntracheostomy. Postoperative biopsy confirmed posterior fossa ependymoma. The patient had a protracted hospital stay complicated by recurrent febrile episodes
\nwith Blood and Et cultures growing Serratia marcescens and Stenotrophomonas maltophilus, and the patient responded to targeted intravenous antibiotics.
\nDue to recurrent aspiration and nutritional concerns, a PEG tube was placed following medical gastroenterology consultation The patient also received physiotherapy and rehabilitation throughout the hospital stay.<\/p>\n

Follow-up contrast MRI of brain and spine showed:<\/p>\n

* Suboccipital craniotomy changes with residual heterogeneous signal in the surgical bed (possible residual tumor vs post-procedural changes).
\n* Persistent bilateral vestibular schwannomas.
\n* No definitive new lesions in the spine.<\/p>\n

Radiation oncologist opinion was obtained and Radiotherapy was deferred to allow for adequate recovery and rehabilitation.<\/p>\n

The patient was clinically stabilized and transitioned from acute hospital care to a dedicated rehabilitation centre for ongoing multidisciplinary management.<\/p>\n

Discussion<\/strong><\/h2>\n

Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder characterized by the development of multiple benign tumors in the nervous system, particularly affecting the vestibulocochlear nerve. The hallmark of NF2 is the development of bilateral vestibular schwannomas, which often lead to hearing loss, tinnitus, and balance issues. Other common tumors associated with NF2 include meningiomas, gliomas, and ependymomas. Ophthalmological manifestations such as cataracts and retinal hamartomas are also prevalent. The condition typically manifests between the ages of 18 and 24, with most patients developing bilateral vestibular schwannomas by 30 years of age. Approximately 50% of cases are inherited from an affected parent, while the remainder result from de novo mutations.<\/p>\n

The NF2 gene, located on chromosome 22q, encodes a tumor suppressor protein called merlin. It is involved in regulating cell proliferation, motility, and adhesion. Merlin exerts its effects by interacting with various signaling pathways, including the PI3K\/Akt, Raf\/MEK\/ERK, and mTOR pathways. Loss of merlin function due to NF2 gene mutations leads to dysregulation of these pathways, promoting tumorigenesis.<\/p>\n

Truncating mutations (nonsense and frameshift) are the most common germline events and are associated with more severe disease phenotypes. Missense mutations and large deletions are also observed and may correlate with milder clinical presentations.<\/p>\n

Diagnosis of NF2 is based on clinical criteria, imaging studies, and genetic testing. Magnetic resonance imaging (MRI) is highly sensitive and can readily detect schwannomas, meningiomas, and gliomas. Genetic testing for mutations in the NF2 gene is available and can confirm the diagnosis.<\/p>\n

The Children\u2019s Tumor Foundation (CTF) and updated the diagnostic criteria of neurofibromatosis type 2 (NF2) and schwannomatosis (SWN)<\/strong><\/h2>\n

A diagnosis of NF2 can be established if any one of the following conditions is met:<\/p>\n

    \n
  1. Bilateral Vestibular Schwannomas (VS):<\/strong>\n