Neurofibromatosis II

Neurofibromatosis II
Updated: 03/29/2020
© Jun Wang, MD, PhD

General features
  • Also known as NF2, acoustic neurofibromatosis
  • Autosomal dominant
Clinical presentations
  • Bilateral acoustic neuromas (schwannomas)
  • Multiple meningiomas
  • Spinal cord ependymomas
  • Schwannosis (ingrowth of Schwann cells into cord)
  • Meningioangiomatosis
  • Glial hamartia
  • CafĂ© au lait
  • NO Lisch nodules (unlike NF1)
Pathogenesis
  • Abnormal activation of PI3K, RAS and RAC by mutated merlin
Genetic abnormality
  • Loss of function mutation of merlin at 22q12

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Contents

Pathology notes Jun Wang, MD, PhD 1. General information Frequently discussed syndromes Terms of dermatology Terms of hematology 2. Primary immunodeficiency disorders 3. Hemodynamic abnormalities Shock Thrombosis and embolism Bleeding disorders 4.  Benign blood cell disorders Anemia Benign white cell disorders 5. Hematopoietic neoplasms Lymphoid neoplasms Myeloid neoplasms Histiocytic neoplasms: Langerhans cell histiocytosis 6. Cardiovascular system Pulmonary hypertension Cardiovascular system tumors 7. Respiratory tract tumors 8. Gastrointestinal tract Congenital disorders Infectious gastroenteritis Oral cavity Esophagus Stomach Intestinal tumors Salivary glands Exocrine pancreas and gallbladder 9. Urinary system Kidney masses Lower urinary tract 10. Male reproductive system 11. Female genital tract 12. Breast 13. Endocrine organs Pituitary gland Adrenal gland Thyroid gland Parathyroid gland Endocrine pancreas M
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Anemia

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Myeloid neoplasms

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