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Cancer Prep > Rare And Pediatric Cancers > Flashcards

Rare And Pediatric Cancers Flashcards

1
Q

What is familial pancreatic cancer?

A

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

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2
Q

What are some adenocarcinoma syndromes? 6 items

A
  • Familial Pancreatic Cancer
    -CDKN2A (P16)
    BRCA1/2
    LYNCH
    PALB2
    STK11
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3
Q

What are Neuroendocrine syndromes?

A

Von Hippel Lindau
Multiple endocrine neoplasia or MEN1

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4
Q

What are the genetic testing recommendations for hereditary pancreatic cancer?

A

All patients with pancreatic cancer, regardless of age

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5
Q

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

A

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

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6
Q

What kind of screening is available for pancreatic cancer?

A

Endoscopic ultrasound and MRI cholangiopancreatography

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7
Q

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

A

Nevoid basal cell carcinoma syndrome or Gorlin Syndrome

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8
Q

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

A

AD
Chromosome 9
PTCH gene

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9
Q

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

A

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

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10
Q

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

A

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

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11
Q

How many people affected with skin cancer with NBCCS?

A

76% of all affected people

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12
Q

What are the facial features associated with NBCCS?

A

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

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13
Q

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

A

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

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

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14
Q

What happens to the brain with NBCCS and percent?

A

Calcium deposits and 90%.

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

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15
Q

What happens with the hands in NBCCS AND percent?

A

Pits in palms or soles of feet

60%

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16
Q

What happens to the ovary in NBCCS & percent?

A

Fibromas (Benign tumor)

20%

17
Q

What happens to the heart in NBCCS & percent?

A

Fibromas (benign tumor) 2%

18
Q

Etiology of Melanoma

A

> 90% Sporadic
~10% familial clustering

19
Q

Melanoma susceptibility genes. 6 items

A

CDKN2A, CDK4, Tert, POT1, MC1R, MITF

20
Q

What percent of PGL/PCC are hereditary?

A

Approx. 40%

21
Q

What are the PGL/PCC genes?

A

SDHA/B/C/D, SDHAF2, MAX

22
Q

Associated risks and Age of onset: SDHD

A

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

23
Q

Associated risks and Age of onset: SDHB

A

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

~26-30

24
Q

Associated risks and Age of onset: SDHC

A

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

25
Q

What are the mismatch repair genes and inheritance?

A

MSH2, MSH6, MLH1, PMS2
Autosomal recessive

26
Q

MMDR Hematalogic malignancies?

A

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

27
Q

MMDR Brain tumors?

A

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

28
Q

MMRD Dermatologic and colon features

A

NF1 features and multiple polyps at young age

29
Q

MEN: what does it stand for?

A

Multiple endocrine neoplasia

30
Q

MEN1 Inheritance and penetrance by 50 and chromosome

A

AD & 94% by 50. Chromosome 11

31
Q

MEN1 Main features (3 p’s)

A

Parathyroid adenoma
Pancreatic tumor
Pituitary tumor

32
Q

MEN2 INHERITANCE and affected gene

A

AD and RET gene

33
Q

MEN2A Features + de novo rate

A

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

34
Q

MEN2B features + de novo rate

A

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

35
Q

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

A

TP53, C. 17, and autosomal dominant

36
Q

Cowden Syndrome: Gene affected and inheritance

A

PTEN & Autosomal Dominant

37
Q

Features of Cowden syndrome

A

Facial Trichelemmomas, Acral keratoses, papillomatous papeles, mucosal lesions

38
Q

Major clinical criteria for Cowden syndrome

A

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

Cancer Prep (2 decks)

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