Ch12 Hereditary Neural and NE Syndromes TABLE

Question 1

Neurofibromatosis type I: inheritance pattern

Answer 1

Autosomal Dominant

Question 2

Neurofibromatosis type I: Gene mutation (chromosome)

Answer 2

NF1 gene (chromosome 17q11.2)

Question 3

Neurofibromatosis type I: Frequency

Answer 3

1 in 2,500 to 3,000 live births

Question 4

Neurofibromatosis type I: Common or Significant clinical features (8)

Answer 4

1. Neurofibromas (especially plexiform type) 2. Cafe au lait pigmentation 3.Axillary and groin freckling 4. Lisch nodules of the iris 5.optic glioma 6.epilepsy 7.hypertension 8.Malignant peripheral nerve sheath tumor (5% of patients)

Question 5

Neurofibromatosis type II: inheritance pattern

Answer 5

Autosomal Dominant

Question 6

Neurofibromatosis type II: Gene mutation (chromosome)

Answer 6

NF2 gene (chromosome 22q12.2)

Question 7

Neurofibromatosis type II: Frequency

Answer 7

1 in 25,000 to 87,000 live births

Question 8

Neurofibromatosis type II: Common or Significant clinical features (7)

Answer 8

1. Bilateral schwannomas (“acoustic neuromas”) of the vestibular nerve (CN VIII) 2.Cranial and spinal meningiomas 3.other cranial nerve and spinal schwannomas 4.cutaneous schwannomas 5.subcapsular cataracts 6.cafe au lait pigmentation (less common than NF1) 7.cutaneous neurofibromas (uncommon)

Question 9

Schwannomatosis: inheritance pattern

Answer 9

Autosomal dominant (most cases have been sporatic)

Question 10

Schwannomatosis: Gene mutation (chromosome)

Answer 10

SMARCB1 gene (chromosome22q11)

Question 11

Schwannomatosis: Frequency

Answer 11

1 in 40,000 live births

Question 12

Schwannomatosis: Common or Significant clinical features (2)

Answer 12

1. multiple noncutaneous schwannomas (no CN VIII involvement) 2. Chronic pain associated with schwannomas

Question 13

Multiple endocrine neoplasia type 1 (MEN 1): inheritance pattern

Answer 13

Autosomal dominant

Question 14

Multiple endocrine neoplasia type 1 (MEN 1): Gene mutation (chromosome)

Answer 14

MEN1 gene (chromosome 11q13)

Question 15

Multiple endocrine neoplasia type 1 (MEN 1): Frequency

Answer 15

1 in 20,000 to 40,000 live births

Question 16

Multiple endocrine neoplasia type 1 (MEN 1): Common or Significant clinical features (4)

Answer 16

4 P’s

1.Parathyroid tumors 2.Pancreatic islet tumors 3.Anterior pituitary tumors 4. Adrenocortico tumors (Pheochomocytoma)

Question 17

Medullary thyroid carcinoma (MTC) syndrome: inheritance pattern

Answer 17

Autosomal Dominant

Question 18

Medullary thyroid carcinoma (MTC) syndrome: Gene mutation (chromosome)

Answer 18

RET proto-oncogene (chromosome 10q11.2; various codons)

Question 19

Medullary thyroid carcinoma (MTC) syndrome: Frequency

Answer 19

1 in 114,000 to 1,000,000 live births

Question 20

Medullary thyroid carcinoma (MTC) syndrome: Common or Significant clinical features (2)

Answer 20

1. MTC 2. low or no risk for other neuroendocrine tumors

Question 21

Multiple endocrine neoplasia type 2A (MEN 2A): inheritance pattern

Answer 21

Autosomal Dominant

Question 22

Multiple endocrine neoplasia type 2A (MEN 2A): Gene mutation (chromosome)

Answer 22

RET proto-oncogene (chromosome 10q11.2; codon 634)

Question 23

Multiple endocrine neoplasia type 2A (MEN 2A): Frequency

Answer 23

1 in 40,000 to 72,000 live births

Question 24

Multiple endocrine neoplasia type 2A (MEN 2A): Common or Significant clinical features (3)

Answer 24

1.MTC 2.Pheochromocytoma 3.Parathyroid adenoma

Question 25

Multiple endocrine neoplasia type 2B (MEN 2B): inheritance pattern

Answer 25

Autosomal Dominant

Question 26

Multiple endocrine neoplasia type 2B (MEN 2B): Gene mutation (chromosome)

Answer 26

RET proto-oncogene (chromosome 10q11.2; codon 918)

Question 27

Multiple endocrine neoplasia type 2B (MEN 2B): Frequency

Answer 27

1 in 400,000 to 4,000,000 live births

Question 28

Multiple endocrine neoplasia type 2B (MEN 2B): Common or Significant clinical features (4)

Answer 28

1. MTC 2. Pheochromocytoma 3.Mucosal neuromas 4.Marfanoid habitus

Question 29

Neurofibromatosis type I: alternate name

Answer 29

Von Recklinghausen Disease of the Skin