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Boards.CP.Molecular > SolidTumors-Breast,GU,ST,Bone > Flashcards

SolidTumors-Breast,GU,ST,Bone Flashcards

Solid Tumors: -Breast -GU -S.T./Bone

1
Q

BRCA1 & 2 are what kind of genes?

A

Tumor Suppressor

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2
Q

BRCA1 chromosome.

A

17q

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3
Q

BRCA2 chromosome.

A

13q

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4
Q

What population are BRCA mutations particularly prevalent?

A

Ashkenazi Jews

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5
Q

BRCA mutation inheritance/penetrance.

A
  • Autosomal Dominant

- High penetrance (80% lifetime risk of Breast Ca)

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6
Q

BRCA mutations increase risk of what other neoplasms?

A
  • Ovary
  • FT
  • Colon
  • Uterus
  • Pancreas

*Males - Prostate

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7
Q

In women with BRCA breast cancer, what is the risk of cancer developing in contralateral breast?

A

25%

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8
Q

Other inherited influences on Breast Cancer.

A
  • P53 (Li-Fraumeni)
  • PTEN (Cowden)
  • CDH1 (Gastric Cancer syndrome)
  • STK11 (PJS)
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9
Q

Luminal A breast cancer morphology.

A

Low grade Ductal, NOS

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10
Q

Luminal B breast cancer morphology.

A

High grade Ductal, NOS

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11
Q

Luminal A IHC:

  • ER
  • PR
  • Her2
A
  • ER(+)
  • PR(+/-)
  • Her2(-)
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12
Q

Luminal B IHC:

  • ER
  • PR
  • Her2
A
  • ER(+)
  • PR(+/-)
  • Her2(+)
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13
Q

Her2(+) IHC:

  • ER
  • PR
  • Her2
A
  • ER(-)
  • PR(-)
  • Her2(+)
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14
Q

Basal-like IHC:

  • ER
  • PR
  • Her2
A

Triple-Negative

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15
Q

Basal-like IHC (other)

A
  • CK5/6(+)
  • P63 (+)
  • High Ki67
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16
Q

Which Breast Cancer subtype is sensitive to Trastuzumab?

A

Her2(+) (ER/PR Neg.)

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17
Q

Which Breast Cancer subtype is BRCA1 related?

A

Basal-like

18
Q

T/F: Luminal A and B are sensitive to Endocrine theraphy, with a variable response to Chemo.

A

True (Luminal A more sensitive to Endocrine, better prognosis)

19
Q

von Hippel-Lindau (vHL) syndrome inheritance/gene/chromosome.

A
  • Autosomal Dominant
  • VHL gene (germline mutation)
  • Chr3 (3p25-26)
20
Q

Neoplasms ass. w/ vHL.

A
  • CCRCC
  • Hemangioblastoma (CNS)
  • Pheochromocytoma
  • Pancreatic Islet cell
  • Pancreatic cysts
  • Cystadenomas (epididymis or broad L.)
  • Papillary tumor or Endolymphatic sac origin
21
Q

Birt-Hogg-Dube syndrome:

  • Inheritance
  • Gene
  • Protein
  • Chromosome
A
  • Autsomal Dominant
  • BHD (FLCN) gene
  • Folliculin protein
  • Chr17 (17p11.2)
22
Q

Features of Birt-Hogg-Dube syndrome.

A
  • RCC (mixed chromophobe/oncocytoma)
  • Cystic pulmonary lesions
  • Recurrent pneumothorax
  • Fibrofolliculomas
  • Trichodiscomas
  • Acrochordons
23
Q

Familial CCRCC mutation.

A

Germline mutation of 3p; lacks other features of vHL

24
Q

Familial Papillary RCC:

  • mutation
  • gene
  • chromosome
A
  • Gain of function
  • c-MET (protoncogene)
  • chr17 (17q31)
25
Q

Syndrome associated with increased incidence of RCC; more commonly Renal Angiomyolipoma.

A

Tuberous Sclerosis

26
Q

Sporadic CC-RCC cytogenetics.

A

Chr3 deletions (portions of short arm; p)
-Most start with 3p and collect additional ones
(14q,9p,8p,6q)

27
Q

Sporadic Papillary RCC cytogenetics. (3)

-Similar to what other neoplasms

A
  • Loss of Y
  • Gains of 7 and 17

*Similar to urothelial carcinoma

28
Q

Sporadic Chromophobe RCC cytogenetics.

A

Hypodiploid w/ losses of multiple chromosomes:

-Y,1,2,6,10,13,17,21

29
Q

Renal Carcinoma w/ Xp11.2 translocation:

  • Population
  • Gene
A
  • Children and Young Adults

- Transferrin Receptor TFE3 gene at Xp11.2

30
Q

Renal Carcinoma w/ Xp11.2 translocation:

-Histology (3)

A
  • Alveolar (nested)/Papillary architecture
  • Clear Cells
  • Psammoma bodies
31
Q

Wilms Tumor:

  • Gene
  • Chromosome
A

WT1 gene on chr11

-11p13

32
Q

What is WAGR syndrome?

A
  • Wilms tumor
  • Aniridia
  • GU anomalies
  • Retardation
33
Q

WAGR syndrome is caused by what?

A

Microdeletion of WT1 and the adjacent PAX6 gene

34
Q

What is Aniridia and what cytogenetic abnormality is it associated with?

A

Absence of the Iris

-PAX6 gene deletion on chr11

35
Q

What is the most common translocation in Lipomas?

A

t(3;12)

-HMGA2/LPP fusion

36
Q

Well-differentiated liposarcoma and Atypical LIpomatous tumor rearrangement .

A

12q14-q15 region alterations

  • Supernumerary ring chromosomes
  • Translocations
  • Giant marker chromosomes with amplifications
37
Q

Myxoid and Round cell liposarcoma rearrangement.

A

t(12;16)

-TLS/DDIT3 fusion

38
Q

Alveolar Rhabdomyosarcoma MC rearrangements. (2)

A
  • t(2;13) PAX3/F0X01

- t(1;13) PAX7/F0X01

39
Q

Neuroblastoma MC rearrangement.

A

del(1p), +17

-n-MYC gene

40
Q

Synovial Sarcoma MC rearrangement.

A

t(X;18) SSX1/SYT (SSX2/SYT)

Boards.CP.Molecular (7 decks)

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