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- Ever heard of schwannomatosis?
Jun Lai Tse 1, Agustín Rebollada-Merino 2, Martí Pumarola 3, Ana Liza Ortiz 4, Cristina Toni 1
Background
Schwannomatosis (SWN) is a rare, genetically driven tumor syndrome in humans characterized by multiple, non-cranial, non-dermal schwannomas. This condition is distinguished from other neurofibromatoses by its specific genetic mutations and clinical profile. The report describes a canine case with clinical, imaging, histopathologic, and immunohistochemical findings resembling human SWN, a condition not previously documented in veterinary medicine.
Methods
A 7-year-old male neutered mixed-breed dog was evaluated for a 9-month history of progressive tetraparesis. Neurological examination localized the lesion to the cervical spinal cord. MRI studies, cerebrospinal fluid analysis, serology, and immunosuppressive therapy were performed. Following clinical deterioration and euthanasia, a complete necropsy with histopathology and immunohistochemistry (IHC) using markers including laminin, S100, SOX10, vimentin, GFAP, and IBA1 was conducted to characterize the spinal lesions.
Results
MRI revealed multiple intradural, T2-weighted hyperintense, contrast-enhancing nodules along cervical spinal nerves and roots. CSF analysis showed elevated protein with mononuclear activation but no infection. Postmortem examination identified multiple well-demarcated spindle-cell tumors compressing the spinal cord. Histologically, tumors exhibited Antoni A and B patterns and lipoblast-like cytoplasmic vacuolation. IHC showed strong immunolabeling of neoplastic cells for laminin, S100, and SOX10, supporting Schwann cell origin. These features, along with the distribution and progression of the tumors, closely mirrored the presentation of schwannomatosis in humans.
Limitations
Genetic testing was not performed; hence, the subtype of schwannomatosis could not be definitively classified. The diagnostic criteria used were extrapolated from human medicine, and the lack of canine-specific genetic data limits broader interpretation. Additionally, the report is a single case study, precluding generalization.
Conclusions
This is the first documented case in a dog with clinicopathologic features consistent with human schwannomatosis. It highlights the importance of considering schwannomatosis-like conditions in dogs with multifocal nerve sheath tumors. Further documentation and genetic studies are necessary to understand the pathogenesis and potential hereditary nature of these tumors in veterinary species.
Magnetic resonance imaging of the cervical spinal cord of a dog with multiple spinal nerve sheath tumors. Figures 1, 2. Transverse T2-weighted images centered on the cervical vertebral column at the C7-T1 (Fig. 1) and C6-C7 (Fig. 2) intervertebral disc spaces showing nerve root thickening, highlighted by T2-weighted hyperintensity, with variable degrees of asymmetry in the thickenings. Figures 3, 4. Transverse T1-weighted fat-saturated post-contrast images centered on the cervical vertebral column at the C3-C4 (Fig. 3) and C6-C7 (Fig. 4) intervertebral disc spaces. Multiple intradural nodular lesions have uniform contrast enhancement with well-defined borders, some extending into the spinal cord parenchyma.
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