IllnessSchwannomatosis, differential diagnosis

NGS + [SNP]

[Sanger]

Schwannomatosis is characterized by multiple benign tumors, so-called Schwannomas, which develop from the Schwann cells of the nerve sheath. First symptoms usually appear in early adulthood, with chronic pain possibly anywhere in the body. Life expectancy is normal. Schwannomatosis can be considered as a form of neurofibromatosis very similar to NF2 - but without vestibular schwannomas as a typical characteristic of NF2 and without NF2 mutation in peripheral blood. However, NF2 mutation mosaics are common, resulting from somatic hereditary mutations. The heredity of schwannomatosis is not yet understood; <20% of schwannomatosis cases share a positive family history. Therefore, an inconspicuous genetic finding does not mean that the suspected clinical diagnosis can be excluded with certainty.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK487394/

• Alias: Neurofibromatose Typ 3, NF3
• Alias: Schwannomatose, NF3
• Allelic: Acrodysostosis 1, with/-out hormone resistance (PRKAR1A)
• Allelic: Adrenocortical tumor, somatic (PRKAR1A)
• Allelic: Basal cell nevus syndrome (SUFU)
• Allelic: Coffin-Siris syndrome 3 (SMARCB1)
• Allelic: Coffin-Siris syndrome 5 (SMARCE1)
• Allelic: Joubert syndrome 32 (SUFU)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Medulloblastoma, desmoplastic (SUFU)
• Allelic: Meningioma, NF2-related, somatic (NF2)
• Allelic: Meningioma, familial, susceptibility to (SMARCE1, SUFU)
• Allelic: Myxoma, intracardiac (PRKAR1A)
• Allelic: Neurofibromatosis-Noonan syndrome (NF1)
• Allelic: Noonan syndrome 10 (LZTR1)
• Allelic: Noonan syndrome 2 (LZTR1)
• Allelic: Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
• Allelic: Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
• Allelic: Rhabdoid tumors, somatic (SMARCB1)
• Allelic: Watson syndrome (NF1)
• Carney complex, type 1 (PRKAR1A)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis, type 2 (NF2)
• Schwannomatosis, somatic (NF2)
• Schwannomatosis-1, susceptibility to (SMARCB1)
• Schwannomatosis-2, susceptibility to (LZTR1)