Cancer Syndrome Criteria

Question 1

• Spotty skin pigmentation on lips, conjunctiva and inner or outer canthi, and/or vaginal or penila mucosa

Answer 1

Carney Complex criteria

Question 2

• Large cell calcifying Sertoli cell tumor or characterstic calcification on testicular U/S

Answer 2

Carney Complex criteria

Question 3

• Myxoma (cutaneous and mucosal)

Answer 3

Carney Complex criteria

Question 4

• Cardiac myxoma

Answer 4

Carney Complex criteria

Question 5

• Breast myxomatosis or fat-suppressed MRI findings suggestive of this dx

Answer 5

Carney Complex criteria

Question 6

• Acromegaly due to growth hormone-producing adenoma

Answer 6

Carney Complex criteria

Question 7

• Primary pigmented nodular adrenocortical dysplasia

Answer 7

Carney Complex criteria

Question 8

Thyroid carcinoma (nonmedullary) or multiple hypoechoic nodules on thyroid U/S in a young patient

Answer 8

Carney Complex criteria

Question 9

Psammomatous melanotic schwannoma

Answer 9

Carney Complex criteria

Question 10

Blue nevus, epithelioid blue nevus (multiple)

Answer 10

Carney Complex criteria

Question 11

Breast ductal adenoma (multiple)

Answer 11

Carney Complex criteria

Question 12

Osteochondromyxoma

Answer 12

Carney Complex criteria

Question 13

Breast cancer is a major criteria piece for _________

Answer 13

Cowden Syndrome Major Criteria

Question 14

Endometrial cancer (epithelial)

Answer 14

Cowden Syndrome Major Criteria

Question 15

Follicular Thyroid Cancer

Answer 15

Cowden Syndrome Major Criteria

Question 16

GI hamartomas (including ganglioneuromas but excluding hyperplastic polyps; 3 or more)

Answer 16

Cowden Syndrome Major Criteria

Question 17

Lhermitte-Duclos disease (adult)

Answer 17

Cowden Syndrome Major Criteria

Question 18

Macrocephaly (58 cm for women, 60 cm for men; 97th+ percentile)

Answer 18

Cowden Syndrome Major Criteria

Question 19

Macular pigmentation of the glans penis

Answer 19

Cowden Syndrome Major Criteria

Question 20

Multiple mucocutaneous lesions (any of the following): - multiple trichilemmomas (3+, at least 1 proven by biopsy) - Acral keratoses (3+ palmoplantar keratotic pits and/or acral hyperkeratotic papules) - Mucocutaneous neuromas (3+) - Oral papillomas (particularly on tongue and gingival), multiple (3+) OR biopsy proven OR dermatologist diagnosed

Answer 20

Cowden Syndrome Major Criteria

Question 21

Autism spectrum disorder

Answer 21

Cowden Syndrome Minor Criteria

Question 22

Colon cancer

Answer 22

Cowden Syndrome Minor Criteria

Question 23

Esophageal glycogenic acanthosis (3+)

Answer 23

Cowden Syndrome Minor Criteria

Question 24

Lipomas (3+)

Answer 24

Cowden Syndrome Minor Criteria

Question 25

Intellectual disability (ie. IQ

Answer 25

Cowden Syndrome Minor Criteria

Question 26

Renal cell carcinoma

Answer 26

Cowden Syndrome Minor Criteria

Question 27

Testicular lipomatosis

Answer 27

Cowden Syndrome Minor Criteria

Question 28

Thyroid cancer (papillary or follicular variant of papillary)

Answer 28

Cowden Syndrome Minor Criteria

Question 29

Thyroid structural lesions (e.g. adenoma, multinodular goiter)

Answer 29

Cowden Syndrome Minor Criteria

Question 30

Vascular anomalies (including multiple intracranial developmental

Answer 30

Cowden Syndrome Minor Criteria

Question 31

Soft-tissue sarcoma

Answer 31

Li-Fraumeni Syndrome associated tumor

Question 32

Osteosarcoma

Answer 32

Li-Fraumeni Syndrome associated tumor

Question 33

Brain tumor

Answer 33

Li-Fraumeni Syndrome associated tumor

Question 34

Breast cancer (often before 35)

Answer 34

Li-Fraumeni Syndrome associated tumor

Question 35

Adrenocortical tumor

Answer 35

Li-Fraumeni Syndrome associated tumor

Question 36

Leukemia

Answer 36

Li-Fraumeni Syndrome associated tumor

Question 37

Bronchoalveolar cancer (type of lung cancer)

Answer 37

Li-Fraumeni Syndrome associated tumor

Question 38

Colorectal cancer

Answer 38

Li-Fraumeni Syndrome associated tumor

Question 39

Colorectal adenocarcinoma

Answer 39

Lynch Syndrome associated tumor

Question 40

Endometrial adenocarcinoma

Answer 40

Lynch Syndrome associated tumor

Question 41

Urothelial carcinoma (ureter and renal collecting ducts)

Answer 41

Lynch Syndrome associated tumor

Question 42

Gastric cancer

Answer 42

Lynch Syndrome associated tumor

Question 43

Ovarian

Answer 43

Lynch Syndrome associated tumor

Question 44

Small bowel cancer

Answer 44

Lynch Syndrome associated tumor

Question 45

Glioblastoma

Answer 45

Lynch Syndrome associated tumor

Question 46

Sebaceous Adenocarcnioma

Answer 46

Lynch Syndrome associated tumor

Question 47

Biliary tract cancer

Answer 47

Lynch Syndrome associated tumor

Question 48

Pancreatic cancer

Answer 48

Lynch Syndrome associated tumor

Question 49

Lamellar calcification of the falx in an individual younger than age 20

Answer 49

Nevoid basal cell carcinoma syndrome (Gorlin Syndrome) major criteria

Question 50

Jaw keratocyst

Answer 50

Nevoid basal cell carcinoma syndrome (Gorlin Syndrome) major criteria

Question 51

Palmar or Plantar pits

Answer 51

Nevoid basal cell carcinoma syndrome (Gorlin Syndrome) major criteria

Question 52

Multiple basal cell carinomas (\>5 in a lifetime) or a basal cell carcinoma dx before age 30 (excluding BCC that develop after radiotherapy)

Answer 52

Nevoid basal cell carcinoma syndrome (Gorlin Syndrome) major criteria

Question 53

Childhood medulloblastoma (primitive neuroectodermal tumor)

Answer 53

Nevoid basal cell carcinoma syndrome (Gorlin Syndrome) minor criteria

Question 54

Lymphomesenteric or pleural cysts

Answer 54

Nevoid basal cell carcinoma syndrome (Gorlin Syndrome) minor criteria

Question 55

Macrocephaly (occipital frontal circumference \>97th percentile)

Answer 55

Nevoid basal cell carcinoma syndrome (Gorlin Syndrome) minor criteria

Question 56

Cleft lip or cleft palate

Answer 56

Nevoid basal cell carcinoma syndrome (Gorlin Syndrome) minor criteria

Question 57

Vertebral or rib anomalies observed on X-ray

Answer 57

Nevoid basal cell carcinoma syndrome (Gorlin Syndrome) minor criteria

Question 58

Preaxial or post axial polydactyly

Answer 58

Nevoid basal cell carcinoma syndrome (Gorlin Syndrome) minor criteria

Question 59

Ovarian or cardiac fibromas

Answer 59

Nevoid basal cell carcinoma syndrome (Gorlin Syndrome) minor criteria

Question 60

Ocular anomalies (cataract, developmental defects, and pigmentary changes of the retinal epithelium)

Answer 60

Nevoid basal cell carcinoma syndrome (Gorlin Syndrome) minor criteria

Question 61

Facial angiofibromas or forehead plaque

Answer 61

Tuberous sclerosis complex major criteria

Question 62

Nontraumatic ungual or periungual fibroma

Answer 62

Tuberous sclerosis complex major criteria

Question 63

Hypomelanotic macules (3+)

Answer 63

Tuberous sclerosis complex major criteria

Question 64

Shagreen patch (connective tissue nevus)

Answer 64

Tuberous sclerosis complex major criteria

Question 65

Cortical tuber in the brain

Answer 65

Tuberous sclerosis complex major criteria

Question 66

Subependymal glial nodule

Answer 66

Tuberous sclerosis complex major criteria

Question 67

Subependymal giant cell astrocytoma

Answer 67

Tuberous sclerosis complex major criteria

Question 68

Multiple retinal nodular hamartomas

Answer 68

Tuberous sclerosis complex major criteria

Question 69

Cardiac rhabdomyomas, single or multiple

Answer 69

Tuberous sclerosis complex major criteria

Question 70

Lymphangiomyomatosis

Answer 70

Tuberous sclerosis complex major criteria

Question 71

Renal angiomyolipoma

Answer 71

Tuberous sclerosis complex major criteria

Question 72

Multiple, randomly distributed pits in dental enamel

Answer 72

Tuberous sclerosis complex minor criteria

Question 73

Hamartomatous rectal polyps

Answer 73

Tuberous sclerosis complex minor criteria

Question 74

Bone cysts

Answer 74

Tuberous sclerosis complex minor criteria

Question 75

"Confetti" skin lesions

Answer 75

Tuberous sclerosis complex minor criteria

Question 76

Multiple renal cysts

Answer 76

Tuberous sclerosis complex minor criteria

Question 77

Nonrenal hamartoma

Answer 77

Tuberous sclerosis complex minor criteria

Question 78

Cerebral white matter radial migration lines

Answer 78

Tuberous sclerosis complex minor criteria

Question 79

Retinal achromic patch

Answer 79

Tuberous sclerosis complex minor criteria

Question 80

Gingival fibromas

Answer 80

Tuberous sclerosis complex minor criteria