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MBBS IV - Supplementary Courses > Molecular Genetics - Gynaecological Cancers (VI) > Flashcards

Molecular Genetics - Gynaecological Cancers (VI) Flashcards

1
Q

3 clinical applications of HPV test?

A

1) Primary screening
2) Triage of atypical squamous of undetermined significance (ASCUS)
3) Test of cure

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2
Q

Inheritance pattern of BRCA1/2- associated hereditary breast and ovarian cancer

A

Autosomal dominant

Germline mutation of BRCA1 and BRCA2

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3
Q

Associated diseases and risks of BRCA1/2 positive

A

Definitively increase lifetime risks of:

  • Ovarian cancer
  • Fallopian tube cancer (BRCA1 only)
  • Breast cancer
  • possibly others: melanoma, colorectal, stomach…etc
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4
Q

Histological types of tumors caused by BRCA mutation.

A

1) High grade Serous Adenocarcinoma
- Ovary, Peritoneum, Fallopian tube, Endometrium

2) Serous Tubal Intraepithelial Carcinoma (STIC)
- Fallopian tube

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5
Q

Describe response of BRCA mutation carriers with BRCA-related cancer to platinum-based chemotherapy and PARP inhibitors

A

BRCA carrier:

Higher initial response to plat- based chemotherapy
Similar survival rate after 5 and 10 years as non-carriers

good response to PARP inhibitor, improve survival

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6
Q

2 methods to identify BRCA mutation

A

Sanger sequencing

Next generation sequencing

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7
Q

5 classes of BRCA mutation related to risk of disease progression

A

Increased risk of disease:

  • Pathogenic
  • Likely pathogenic

No increased risk of disease:

  • Benign
  • Likely benign

Unclear
- Variant of Unknown Significance

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8
Q

Difference in results from BRCA blood test and BRCA tumour testing for high grade serious ovarian cancer.

A

BRCA in blood = germline or somatic mutation
BRCA in tumour = Pathological variant, Variant of unknown significance, Negative

Not clinically important to differentiate germline or somatic > both use PARP anyways
Germline mutation identified for genetic counseling

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9
Q

Which BRCA test can differentiate somatic and germline mutation?

A

BRCA blood test

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10
Q

Genetic cause of HNPCC?

Inheritance pattern?

A

Constitutional mutation in 1 of 4 DNA mismatch repair genes: MSH2, MSH6, PMS2, MLH1

Deletion of 3’ EPCAM can extend into MSH2 and result in same phenotype

Autosomal dominant inheritance

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11
Q

Function of Mismatch repair genes?

Consequence if mutated?

A

MMR genes maintain microsatellite stability

Microsatellite = tract of repetitive DNA motifs that can slip at parental or daughter DNA strand
MMR repairs slippages

Loss of MMR causes microsatellite instability

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12
Q

Cancers associated with HNPCC?

A
  • Colorectal
  • Prostate
  • Endometrium, ovary
  • Stomach, small bowel
  • Urinary tract
  • Brain
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13
Q

Diagnostic criteria of genetic mutations causing HNPCC?

A

Germline mutation in MMR genes (MSH2, MSH6, PSM2, MLH1)

EPCAM mutation

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14
Q

Lynch syndrome

3 methods for diagnosis

A

1) IHC for MMR proteins

2) Microsatellite instability analysis:
- Microsatellite stable (MSS)
- Low MSI (MSI-L)
- High MSI (MSI-H)

3) Next generation sequencing Gene panel testing

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15
Q

Define the MMR screening scheme for Lynch syndrome/ HNPCC

A

Aberrant MMR seen on IHC

  • MSH2/ MSH6 loss of expression from germline MMR mutation + No germline EPCAM mutation = Lynch syndrome
  • MLH1/ PSM2 loss of expression + MLH1 promoter methylation = Sporadic mutation
    No MLH1 promoter methylation = germline mutation
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16
Q

3 approaches to subtype cervical cancer?

A
  • HPV DNA test by sequencing
  • IHC for p16 surrogate marker
  • Morphological diagnosis of SCC or adenocarcinoma
17
Q

3 classes of SCC cervical cancer

A

SCC, HPV associated
SCC, HPV independent
SCC, NOS (not otherwise specified)

18
Q

6 classes of adenocarcinoma cervical cancer?

A

Adenocarcinoma in situ, HPV associated
Adenocarcinoma in situ, HPV independent

Adenocarcinoma, HPV associated

Adenocarcinoma, HPV independent - Gastric type
Adenocarcinoma, HPV independent - Clear cell type
Adenocarcinoma, HPV independent - Mesonephric type

19
Q

List 4 pure sex-cord tumours and associated genetic factors (2)

A
  1. Adult granulosa cell tumor = FOXL2 missense mutation
  2. Juvenile granulosa cell tumour = n/a
  3. Sertoli cell tumour = n/a
  4. Sex cord tumour with annular tubules = Germline SKT11 gene mutation
20
Q

3 molecular subtypes of Sertoli-Leydig cell tumours

Difference in age group and differentiation

A
  1. DICER1 mutant
    - Young
    - Moderate to poor differentiated
  2. FOXL2 mutant
    - Post-menopausal
    - Moderate to poor differentiated
  3. DICER/ FOXL2 wild type
    - Intermediate age
    - Well differentiated
21
Q

High grade serious ovarian cancer with BRCA1/2 mutation.

Treatment?

A

PARP inhibitor (Olaparib)
+
Platinum-based chemotherapy

Synergistic lethality

22
Q

MMR-deficient endometrial cancer +/- metastasis

Treatment?

A

Immunotherapy
anti-PD-1/ PDL-1 immune checkpoint inhibitors
e.g. Pembrolizumab, anti-PD immune checkpoint inhibitor

(programmed cell death ligant-1)

23
Q

Default treatment for DNA MMR deficiency solid tumours

A

Pembrolizumab, anti-PD immune checkpoint inhibitor

24
Q

US exam reveal cluster of small, grape-like cysts in the Placenta with no fetal tissue growth.
Dx?

A

Complete Hydatidiform mole

25
Q

2 types of hydatidiform mole/ Molar pregnancy.

Cause?

A

Abnormal fertilization of oocyte > placental growth with abnormal/ no fetal growth

  • Complete = Abnormal placenta + No fetal development
  • Partial = Abnormal placenta + some fetal growth
26
Q

Difference in chromosome composition of complete (mono or dispermic) vs partial hydatidiform mole.

A

Complete = Diploid

  • Monospermic = empty ovum + 23X from sperm (replicate) = 46XX
  • Dispermic = empty ovum + 23X/ Y from 2 sperm = 46XX or 46XY

Partial = Triploid
- Normal ovum + 23X/Y from 2 sperm = 69XXX, 69XXY or 69XYY

27
Q

Father to mother chromosome ratio in Complete vs partial hydatidiform mole

A

Complete - Father to mother ratio = 2:0

Partial - Father to mother ratio = 2:1 (extra paternal haploid present)

28
Q

Genetic test method for hydatidiform mole? (which marker to differentiate complete vs partial HM)

A

1) P57-KIP2 only expressed in maternal allele

Complete hydatidiform mole has no maternal chromosome = no P57-KIP2 expression

Test = IHC for P57-KIP2 expression in cytology and stromal cells
IHC positive = Partial HM
IHC negative = complete HM

2) Molecular genotyping to d/dx HM

29
Q

Use of molecular typing to differentiate types of hydatidiform mole?

A

Molecular genotyping:

  • Androgenic diploidy = Complete HM
  • Diandric Triploidy = Partial HM
  • Biparental Dipoidy = Non-molar/ normal

MBBS IV - Supplementary Courses (54 decks)

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