Rare And Pediatric Cancers

Question 1

What is familial pancreatic cancer?

Answer 1

Two or more 1st and 2nd degree relatives with pancreatic cancer

Question 2

What are some adenocarcinoma syndromes? 6 items

Answer 2

• Familial Pancreatic Cancer
  -CDKN2A (P16)
  BRCA1/2
  LYNCH
  PALB2
  STK11

Question 3

What are Neuroendocrine syndromes?

Answer 3

Von Hippel Lindau
Multiple endocrine neoplasia or MEN1

Question 4

What are the genetic testing recommendations for hereditary pancreatic cancer?

Answer 4

All patients with pancreatic cancer, regardless of age

Question 5

What does the international cancer of the pancreas screening consortium recommend for a Pancreatic Cancer Screening?

Answer 5

They recommend considering pancreatic cancer screening. One individual has a pathogenic variant, and there is a first-degree relative affected with pancreatic cancer

Question 6

What kind of screening is available for pancreatic cancer?

Answer 6

Endoscopic ultrasound and MRI cholangiopancreatography

Question 7

What does NBCCS stand for, and what is it also known as?

Answer 7

Nevoid basal cell carcinoma syndrome or Gorlin Syndrome

Question 8

What is the gene affected in NBCCS, on what chromosome and the inheritance pattern?

Answer 8

AD
Chromosome 9
PTCH gene

Question 9

What is the percent of PTCH genes that are de novo?
How sensitive is testing for PTCH?

Answer 9

20-30% are de novo
Testing is ~60% sensitive

Question 10

What skin cancer occurs with NBCCS and when? Where do you find it?

Answer 10

Basal cell carcinoma and usually 30+ years old and benign. Most common areas on face, back, chest and upper limbs

Question 11

How many people affected with skin cancer with NBCCS?

Answer 11

76% of all affected people

Question 12

What are the facial features associated with NBCCS?

Answer 12

Multiple jaw keratocysts
Large head with prominent forehead, wide nose bridge, prominent jaw, cleft lip and palate, lazy eye, shaking eyes

Question 13

Percent of people affected by jaw cysts, what age, and what can it cause symptomatically?

Answer 13

75% of people affected , usually beginning in 20s.

Jaws can cause pain, swelling, abnormal taste, mouth discharge.

Question 14

What happens to the brain with NBCCS and percent?

Answer 14

Calcium deposits and 90%.

Malignant tumors (medulloblastoma) 5% of children with avg age of 2 years

Question 15

What happens with the hands in NBCCS AND percent?

Answer 15

Pits in palms or soles of feet

60%

Question 16

What happens to the ovary in NBCCS & percent?

Answer 16

Fibromas (Benign tumor)

20%

Question 17

What happens to the heart in NBCCS & percent?

Answer 17

Fibromas (benign tumor) 2%

Question 18

Etiology of Melanoma

Answer 18

> 90% Sporadic
~10% familial clustering

Question 19

Melanoma susceptibility genes. 6 items

Answer 19

CDKN2A, CDK4, Tert, POT1, MC1R, MITF

Question 20

What percent of PGL/PCC are hereditary?

Answer 20

Approx. 40%

Question 21

What are the PGL/PCC genes?

Answer 21

SDHA/B/C/D, SDHAF2, MAX

Question 22

Associated risks and Age of onset: SDHD

Answer 22

AOE: 29-30
Increased risk of multifocal tumors
Low malignancy risk
HNPGL, PGL, PHEO (ADRENAL)

Question 23

Associated risks and Age of onset: SDHB

Answer 23

HNPGL, PGL (EXTRA ADRENAL) PHEO
RCC (2 FAMILIES), MAYBE PAPILLARY THUROID CANCER
more likely malignant tumors

~26-30

Question 24

Associated risks and Age of onset: SDHC

Answer 24

46 yrs avg
Rare benign unilateral tumors, HNPGL, PGL, and pheos

Question 25

What are the mismatch repair genes and inheritance?

Answer 25

MSH2, MSH6, MLH1, PMS2 Autosomal recessive

Question 26

MMDR Hematalogic malignancies?

Answer 26

Childhood leukemias and lymphomas - tend to be T cell vs B cell malignancies

Question 27

MMDR Brain tumors?

Answer 27

Glioma (gliosarcomas & glioblastoma multiforme) Supratentorial primitive neuroectodermal tumors Medulloblastoma

Question 28

MMRD Dermatologic and colon features

Answer 28

NF1 features and multiple polyps at young age

Question 29

MEN: what does it stand for?

Answer 29

Multiple endocrine neoplasia

Question 30

MEN1 Inheritance and penetrance by 50 and chromosome

Answer 30

AD & 94% by 50. Chromosome 11

Question 31

MEN1 Main features (3 p’s)

Answer 31

Parathyroid adenoma Pancreatic tumor Pituitary tumor

Question 32

MEN2 INHERITANCE and affected gene

Answer 32

AD and RET gene

Question 33

MEN2A Features + de novo rate

Answer 33

Medullary thyroid cancer in early adulthood Pheochromocytoma Hyperparathyroidism, parathyroid adenoma ~5% de novo

Question 34

MEN2B features + de novo rate

Answer 34

MTC in early childhood Pheochromocytoma Marfanoid habitus Mucosal and intestinal ganglioneurmatosis De novo ~50%

Question 35

Li-Fraumeni Syndrome: gene affected, on what chromosome & inheritance

Answer 35

TP53, C. 17, and autosomal dominant

Question 36

Cowden Syndrome: Gene affected and inheritance

Answer 36

PTEN & Autosomal Dominant

Question 37

Features of Cowden syndrome

Answer 37

Facial Trichelemmomas, Acral keratoses, papillomatous papeles, mucosal lesions

Question 38

Major clinical criteria for Cowden syndrome

Answer 38

Breast cancer, thyroid cancer, macrocephaly, lhermitte-duclos disease, endometrial cancer