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Boards.CP.Molecular > SolidTumors-GI,Pancreatic,Hepatobiliary > Flashcards

SolidTumors-GI,Pancreatic,Hepatobiliary Flashcards

SOLID TUMORS -GI -Pancreatic -Hepatobiliary

1
Q

85% of colorectal carcinomas are associated with what gene/chr mutation.

A

-APC gene on chr5

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2
Q

In APC gene related tumors what is required for progression?

A

Mutation or LOH of the 2nd APC gene and KRAS mutation

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3
Q

Genetics of Familial Adenomatous Polyposis (FAP).

A

Germline APC mutation

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4
Q

FAP manifestations.

A
  • > 100 adenomatous polyps by 35
  • Adenoca by 50

Increased incidence of:

  • Fundic Gland Polyps
  • Ampullary adenoma
  • small bowel/ampullary Adenoca
  • Thyroid cancer
  • Fibromatosis
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5
Q

Mutation ass. w/ Attenuated FAP.

A

5’ or 3’ end of APC

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6
Q

Other APC germline mutation syndromes.

A
  • Gardner syndrome

- Turcot syndrome

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7
Q

In addition to features of FAP, what other findings are seen in Gardner syndrome?

A
  • Epidermal cysts
  • Osteomas (mandibular/maxillary)
  • Fibromatoses
  • Hypertrophy of retinal pigment epithelium
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8
Q

In addition to features of FAP, what other findings are seen in Turcot syndrome?

A

-CNS tumors

may be caused by APC gene mutations or MMR gene mutations

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9
Q

Characteristic Clinicopathologic features of APC associated tumors:

  • Polyp type
  • colon region
  • Histology
A
  • TA
  • Left-sided (Descending colon)
  • Columnar/psuedostratified with lumens and dirty necrosis w/ infiltrating advancing edge
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10
Q

15% of colorectal carcinomas are associated with genetic abnormality?

A

-Mismatch repair

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11
Q

What do MR genes encode for?

A

Enzymes that correct erros in DNA replication

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12
Q

MMR gene enzymes work as Dimers, what are the main ones?

A
  • MSH2/MSH6

- MLH1/PMS2

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13
Q

What are the major oncogenic mutations in MMR protein defects?

A
  • BRAF
  • KRAS
  • p16INK4a
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14
Q

Microsatellite Instability (MSI) is….

A
  • Alteration in length of microsatellite repeat sequences

- Surrogate marker for MMR dysfunction

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15
Q

What causes sporadic MMR inactivation?

A

Hypermethylation of the promoter sequence

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16
Q

Most germline MMR mutations cause what syndrome?

A

Lynch Syndrome (HNPCC; Hereditary NonPolyposis Colorectal Cancer)

17
Q

Which mutations account for 90% of Lynch Syndrome (HNPCC) cases?

A
  • MLH1

- MSH2

18
Q

Characteristic Clinicopathologic features of MMR associated tumors:

  • Polyp
  • Presentation
  • Region of Colon
  • Cancer subtype
  • Dirty Necrosis??
  • Key Histo feature
A
  • SSA
  • Large exophytic mass
  • Right colon (Ascending)
  • Mucinous (colloid) differentiation
  • NO dirty necrosis
  • Tumor Infiltrating Lymphocytes and/or “Crohnlike” nodular lymphoid reaction
  • Pushing tumor margin
19
Q

MSI testing:

A
  • panel of 5 microsatellites

- DNA from tumor vs. normal tissue (or blood)

20
Q

MSI high Vs MSI low

A

MSI high - at least 2 microsatellites

MSI low - 1 unstable locus

(otherwise microsatellite stable)

21
Q

MMR gene assessment by IHC:

- MLH1 mutation

A
  • MLH1 - NEG.
  • PMS2 - NEG.
  • MSH2 - Pos.
  • MSH6 - Pos.
22
Q

MMR gene assessment by IHC:

- PMS2

A
  • MLH1 - Pos.
  • PMS2 - NEG.
  • MSH2 - Pos.
  • MSH6 - Pos.
23
Q

MMR gene assessment by IHC:

- MSH2

A
  • MLH1 - Pos.
  • PMS2 - Pos.
  • MSH2 - NEG.
  • MSH6 - NEG.
24
Q

MMR gene assessment by IHC:

- MSH6

A
  • MLH1 - Pos.
  • PMS2 - Pos.
  • MSH2 - Pos.
  • MSH6 - NEG.
25
Q

Resistance to EGFR monoclonal Ab (cetuximab) is found in tumors with what specific mutations?

A
  • BRAF (V600E)

- KRAS (codons 12/13)

26
Q

20% of Gastric cancers and 30% of GE junction tumors overexpress what?

A

Her2

27
Q

Juvenile Polyposis syndrome:

  • Inheritance
  • Cancer risk
  • Findings
A
  • Autosomal Dominant
  • Moderate increase
  • Juvenile polyps in stomach, sm. intestine, colon
28
Q

Peutz-Jeghers syndrome (PJS):

  • Inheritance
  • GI Features
  • Cancer risk
A
  • Autosomal Dominant
  • Mucocutaneous pigmentation/Hamartomatous polyps
  • Significant Increased Risk
29
Q

Peutz-Jeghers syndrome: Non-GI findings

A
  • SCTAT
  • Adenoma malignum (minimal deviation adenoca)
  • Calcifying Sertoli cell tumor of the testis
  • Nasal polyposis
30
Q

Most cases of Peutz-Jeghers syndrome are due to what mutations?

A

STK11/LKB1 gene on chr19p

31
Q

GISTs that are KIT weak or KIT Neg. (5%) are likely to harbor what mutation?

A

PDGFRA

32
Q

Most pediatric GISTs (and rare Adult) are negative for KIT and PDGFRA, what mutation may they have?

A

SDH (Succinate Dehydrogenase)

33
Q

Mutation in what KIT exon is highly associated with Imatinib response?

A

11

Exons 9, 13, 17 - 40-50% sensitive
*KIT negative GISTs may be Imatinib sensitive in 30%

34
Q

What is the most common PDGFRA mutation in GIST, and is it Imatinib sensitive or resistant?

A
  • D842V

- Completely insensitive

35
Q

GIST may be a feature of what syndromes?

A
  • Carney Triad (SDH mutations)
  • NF1
  • Familial GIST syndrome (germline mutation in KIT)
36
Q

Carney Triad.

A
  • GIST (SDH mutations)
  • Pulmonary chondromas
  • Extra-adrenal paragangliomas
37
Q

T/F: Peutz-Jeghers syndrome confers 100X increased risk of Pancreatic Ductal Adenocarcinoma.

A

True

38
Q

Genetic abnormalities associated with Increased risk of HCC.

A
  • Hereditary Hemochromatosis
  • Tyrosinemia
  • Glycogen storage disease (types 1&2)
  • AAT deficiency
  • Wilson disease
  • Porphyria Cutanea Tarda
  • Galactosemia
39
Q

What mutations/defect are consistent with germline or sporadic loss of MLH1?

A
  • BRAF (V600E)

- MLH1 promoter hypermethylation

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