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Genetics and Neoplasia > CBCL3 > Flashcards

CBCL3 Flashcards

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1
Q

A 50 year old woman has a breast biopsy following an abnormal mammogram. The biopsy shows a 0.4 cm focus of ductal carcinoma in-situ. She elects to have a mastectomy and all final margins are negative for involvement by carcinoma in-situ. Which of the following is correct?

  1. Her risk of death from breast cancer is extremely low
  2. She has a 20% likelihood of distant metastasis to lung, liver, or brain
  3. She has a 50% likelihood of metastasis to axillary lymph nodes
  4. She is clinically considered stage II based on tumor size
  5. Tumor cells are morphologically indistinguishable from normal ductal epithelial cells
A

Her risk of death from breast cancer is extremely low
Carcinoma in-situ indicates morphologic abnormality of tumor cells, but no evidence of invasion. Therefore, metastases are extremely unlikely and with complete excision, risk of death from breast cancer is extremely low. This is considered stage 0.

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2
Q

A 72 year old man is diagnosed with follicular lymphoma. Immunohistochemical analysis of his tumor cells shows that they are positive for Bcl-2. Cytogenetic analysis shows t(14;18) associated with overexpression of Bcl-2. What is the mechanism of action of Bcl-2 in neoplastic transformation?

A

Bcl-2 inhibits apoptosis
Bcl-2 inhibits apoptotic cell death. This allows persistence of cells with genetic abnormalities that would otherwise have been removed through apoptosis.

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3
Q

What is the function of E7 in promoting cervical neoplasm?

A

binds Rb leading to E2F not being released and no transcription no G1/S checkpoint. Also inhibits p21 and p27 which are CDK inhibitors. Promotes cell cycle progression and reduces DNA repair

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4
Q

What are the high risk HPV infections?

A

HPV 16 and 18

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5
Q

What is the function of E6 in promoting cervical neoplasia?

A

binds and signals for degradation of p53 activates hTERT which is a telomerase enzyme component

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6
Q

You are treating a 47 year old man with squamous cell carcinoma of the larynx. Assay for which of the following viruses in tumor tissue will be useful in evaluation of prognosis and treatment options?

  1. Epstein Barr virus
  2. HSV-1 and 2
  3. HTLV-1
  4. Human herpesvirus 8
  5. Human papillomavirus
A

Human papillomavirus
HPV is associated with a subset of head and neck squamous cell carcinomas and provides valuable prognostic information.

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7
Q

A 65 year old man with prostate cancer presents with dark stools. Colonoscopy shows an ulcerated area in the rectum and a biopsy is obtained (image). The cells on the lower left of the image are positive for prostate specific antigen by immunohistochemistry. The best diagnosis is?

A

Metastatic prostatic adenocarcinoma.
The image shows invasive atypical cells, consistent with a malignant neoplasm. The presence of prostate specific antigen identifies these cells as being of prostatic origin, hence metastatic prostatic adenocarcinoma.

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8
Q

A 14-year-old boy presents with a 7 cm mass in his ileum. A biopsy shows Burkitt lymphoma. Which of the following genetic abnormalities is most likely to be present in tumor cells?

A

t(8;14)
Burkitt lymphoma is associated with t(8;14) that leads to constitutive activation of C-MYC.

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9
Q

A 66 year old man presents with marked leukocytosis with circulating immature granulocytes. The bone marrow is hypercellular and cytogenetic evaluation shows t(9;22). A diagnosis of chronic myelogenous leukemia is made. Which of the following is correct about this translocation?

  1. It leads to a chimeric BCR/ABL protein with tyrosine kinase activity
  2. It leads to inactivation of RB
  3. It leads to inactivation of TP53
  4. It leads to overexpression of Bcl-2
  5. It leads to overexpression of RAS
A

It leads to a chimeric BCR/ABL protein with tyrosine kinase activity
t(9;22) leads to fusion of parts of the BCR and ABL genes. The tyrosine kinase domain of ABL is included in the overexpressed chimeric protein.

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10
Q

A 52-year-old woman has a right hemithyroidectomy to remove a 1.3 cm nodule. The nodule is encapsulated and composed of a uniform population of small follicles. There is no evidence of invasion into the capsule. The most likely diagnosis is?

A

Follicular adenoma.
A benign neoplasm of follicular origin in the thyroid is called a follicular adenoma.

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11
Q

As a pediatrician you are educating the parents of one of your patients on the benefits of immunization. In addition to prevention of infectious diseases, vaccines provide protection against the sequelae of these infections, which can include increased risk of cancer. Which of the following vaccines provides an example of reducing cancer risk?

  1. Diphtheria
  2. Haemophilus influenza type b
  3. Hepatitis B
  4. Inactivated poliovirus
  5. MMR
A

Hepatitis B
Hepatitis B infection is associated with chronic hepatitis and long-term risk of development of hepatocellular carcinoma. This can be prevented by hepatitis B vaccination.

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12
Q

What are the characteristics of squamous cell carcinoma in cervix tissue?

A

Nests of epithelial cells are completely surrounded by cervical stroma; indicative of cells invading the stroma (breaching basement membrane) High nucleus to cyto ratio; Keratinization by invasive cells presents as concentric circles (keratin pearls)

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13
Q

Your patient wants to understand how HPV is involved in cervical neoplasia. Which of the following explanations is correct?

A

HPV integrates into genomic DNA and viral proteins E6 and E7 inhibit RB and p53
HPV proteins E6 and E7 inhibit tumor suppressor genes RB and p53. They also activate telomerase.

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14
Q

A 6.5 cm retroperitoneal tumor is removed from a 65-year-old man. A representative image is shown below. Based on this image, this most likely represents?

A

Malignant neoplasia.
The image shows highly atypical crowded cells. The cells are not recognizable as any type of normal cells. This represents pleomorphism and anaplasia, features of malignant neoplasia.

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15
Q

A 28-year-old woman has an abnormal PAP test result. A biopsy is performed and a representative image is provided below. What is the most likely diagnosis?

A

Squamous dysplasia
The image shows CIN 3/squamous cell carcinoma in situ, a manifestation of squamous dysplasia.

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16
Q

Your patient wants to learn more about HPV vaccination. Which of the following is true about HPV vaccination in the prevention of cervical cancer?

  1. Vaccination for boys is not recommended since they do not get cervical cancer
  2. Vaccination is most effective when administered prior to becoming sexually active
  3. Vaccination is most effective for patients with documented infection by low-risk HPV subtypes
  4. Vaccination is most effective for patients with documented infection by high-risk HPV subtypes
  5. Vaccination for girls is recommended before age 10 with boosters every 10 years thereafter
A

Vaccination is most effective when administered prior to becoming sexually active

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17
Q

When pt presents with HSIL and positive HPV test what is the clinical course of action?

A

Colposcopy to excise lesion; determines grading of lesion Repeat upon follow up in 6 months

18
Q

A 6-year-old girl is diagnosed with neuroblastoma. Analysis of the karyotype shows a homogeneously staining region on the short arm of chromosome 2. This is associated with?

A

Amplification of NMYC gene
Homogeneously staining regions and double minutes are karyotypic manifestations of gene amplification.

19
Q

What are the characteristics of CIN3 cervix tissue?

A

Stratified squamous also; more cells that have high nucleus to cyto ratio Surface cells have more nucleus Abnormal nucleus shape and mitotic figures; no basement membrane penetration

20
Q

If pt has no history of HPV or irregular PAP what is the recommended screening schedule?

A

Every 3 years after age of 21 or after 3 years of beginning sexual

21
Q

A 65-year-old woman with post-menopausal bleeding has an endometrial biopsy. There are crowded glands and scant stroma. Which of the following findings would be most consistent with the presence of a malignant neoplasm?

  1. Atypical mitotic figures
  2. Cellular enlargement
  3. Increased vascular channels
  4. Nuclear enlargement
  5. Nuclear hyperchromasia
A

Atypical mitotic figures.
Atypical mitotic figures are almost never seen in benign neoplasms.

22
Q

What viruses have a similar pathogenesis to HPV?

A

Epstein Barr virus, HIV and hepatitis

23
Q

You are treating two patients with breast cancer. One patient has ductal carcinoma in situ (DCIS) and the other patient has invasive ductal carcinoma. Which of the following is correct about the patient with DCIS (as compared to the patient with invasive ductal carcinoma)?

  1. The clinical stage is higher
  2. The long term survival is lower
  3. The risk of metastasis is higher
  4. Tumor cells have longer telomeres
  5. Tumor cells have more genetic abnormalities in tumor cells
A

Tumor cells have longer telomeres
DCIS precedes invasive ductal carcinoma. Telomerase activation takes place later, so telomeres are progressively shorter in invasive ductal carcinoma as compared to DCIS, but then telomere length stabilizes and doesn’t decrease any more

24
Q

Upon HPV integration into host genome what transcription factor can be dysregulated?

A

Oncogenic expression of Myc

25
Q

A 62-year-old woman presents with painless cervical lymphadenopathy. A lymph node biopsy is performed and a representative section is shown below. Further analysis shows that the tissue contains predominantly B lymphocytes that all express kappa immunoglobulin light chain. The most likely diagnosis is?

A

Lymphoma
The section shows lymphoid tissue. The presence of monoclonal B lymphocytes indicates a lymphoid neoplasm, called lymphoma.

26
Q

34 y/o female with history of HPV,HSIL, and sexually active asks for recommendation on HPV vaccine. What is your clinical recommendation?

A

Vaccines can be administrated to females as young as age 9; catch up vaccinations is also recommended for females 13 to 26. Thus she is outside the recommended range and a vaccine would have little impact given her history of HPV infection. Vaccination is recommended for niave pts that do not have exposure to HPV.

27
Q
A
28
Q

A 55 year old man undergoes an upper endoscopy for evaluation of gastroesophageal reflux disease. A gastric biopsy shows moderate acute and chronic inflammation with Helicobacter pylori organisms. Persistent infection by H. pylori is a risk factor for development of

A

Gastric lymphoma
Long-standing chronic inflammation due to H. pylori infection is associated with development of gastric adenocarcinoma as well as gastric lymphoma.

29
Q

A 34 year old woman has a routine PAP test with HPV co-testing. The PAP test shows low-grade squamous intraepithelial neoplasia and the HPV test is positive for high-risk HPV subtypes. The most appropriate next step is?

A

Colposcopic examination with biopsy of any abnormal areas
For women above 30, abnormal PAP test results should prompt colposcopic examination with biopsy of abnormal areas or endocervical sampling if no abnormal areas are found. LSIL is a manifestation of dysplasia and is not a diagnosis of cancer. Although many cases spontaneously regress, follow up is recommended for this age group to ensure that there is no evidence of high-grade dysplasia.

30
Q

A 4 year old boy has loss of vision due to a retinoblastoma. You are aware of the retinoblastoma (RB) gene as being important in the development of retinoblastoma. Which of the following represents a potential pathogenic mechanism?

  1. Chromosomal translocation leading to chimeric RB gene
  2. Chromosomal translocation leading to overexpression of RB protein
  3. Deletion of one RB allele followed by loss of functioning allele
  4. Gain of function point mutation of RB gene
  5. Gene amplification leading to overexpression of RB protein
A

Deletion of one RB allele followed by loss of functioning allele
RB is a tumor suppressor gene. The function of both alleles must be lost or the protein product inactivated in order to promote transformation.

31
Q

What are the important open reading frames in HPV?

A

E6 and E7

32
Q

Should the 12 y/o male be vaccinated for HPV?

A

Interest in HPV vaccine efficacy and safety in young males has not only included prevention of HPV-related diseases (genital warts, anal cancer, and penile cancer), but also possible decreased transmission of HPV infection to female sex partners and potential for prevention of oral cancers associated with HPV 16 and 18. Since her son is 12 it is recommended for him to get it. Recommended to get quadrivalent or 9-valent form.

33
Q

What is the distinguishing histopathological indication of HPV infection?

A

Koliocytes - halo around nucleus

34
Q

A 44-year-old farmer has a 1.2 cm nodule in the right lung by CT scan. A needle biopsy of the lesion shows a malignant neoplasm. A special stain for mucin shows intracytoplasmic mucin. Based on these findings, the best diagnosis is?

A

Adenocarcinoma
Mucin is a characteristic of gland-forming epithelium. A malignant neoplasm of gland-forming epithelium is an adenocarcinoma.

35
Q

When a pt has a LSIL what is the recommended course of action and why?

A

Repeat PAP in a year. Due to bi-directional progression of the disease. LSIL can both regress and progress. The host immune system can have regulatory mechanisms leading to reversal of the LSIL

36
Q

Your patient wants to understand the relationship between cervical dysplasia and cervical cancer. Which of the following is correct?

A

Some cases of high-grade cervical dysplasia (HSIL/CIN3) progress to cervical cancer over 2 years
Approximately 10% of cases of HSIL/CIN3 progress to cervical squamous cell carcinoma. Most cases of LSIL/CIN1 regress; only 30% persist and 10% progress to HSIL.

37
Q

A 78 year old man with pancreatic cancer develops lung and liver metastases. He has an unintentional weight loss of 25 pounds and marked weakness. This is an indication of?

A

Cancer cachexia
Cancer cachexia is progressive loss of body fat and lean body mass accompanied by weakness, anorexia, and anemia. It is associated with an increased basal metabolic rate, systemic inflammation, and equal loss of both fat and lean muscle.

38
Q

A 25-year-old woman has a 2.2 cm firm mobile mass in her right breast. The mass is excised and diagnosed as a fibroadenoma. Which of the following is correct?

A

The lesion is likely to be well demarcated.
Fibroadenoma is a biphasic benign neoplasm of the breast. It is well demarcated and slow growing.

39
Q

A 66-year-old man presented with small bowel obstruction. A 5.5 cm mass in the jejunum was resected. The most likely diagnosis is?

A

Adenocarcinoma.
The tumor is composed of infiltrating glands and is an adenocarcinoma.

40
Q

What are the characteristics of normal cervix tissue?

A

Uniform epithelial layer extending along the surface of cervical tissue Stratified squamous epithelium Basal cells have higher nucleus to cyto ratio Moving towards surface, cells increase amount of cytoplasm : lower nucleus to cyto ratio

41
Q

What is the difference between the melanoma vaccine and the HPV vaccine?

A

HPV vaccine is preventative and makes antibodies. Melanoma vaccine is a treatment helps induces an antibody response as a treatment.

42
Q

A 42-year-old woman has menorrhagia. She undergoes a hysterectomy. The uterus has a 4.5 cm firm nodule in the myometrium. A representative section of the mass is provided below. The most likely diagnosis is?

A

Leiomyoma
A benign neoplasm composed of smooth muscle is called a leiomyoma.

Genetics and Neoplasia (35 decks)

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