Tumor syndromes Flashcards
Clinical Vignette: A 40-year-old male patient is found to have colorectal carcinoma. His family history reveals multiple first-degree relatives with the same condition. A genetic test confirms the presence of an abnormality on chromosome 5q21.
Multiple-Choice Options:
A) Familial adenomatous polyposis
B) Li-Fraumeni syndrome
C) Cowden’s disease
D) 22q12
Correct Answer: A) Familial adenomatous polyposis
Explanation for Answer Choices:
A) Familial adenomatous polyposis is correct. This syndrome primarily presents with colorectal carcinoma and has a genetic defect at chromosome 5q21. The gene involved is APC, which regulates β-catenin activity.
B) Li-Fraumeni syndrome mainly involves sarcoma and breast carcinoma, and the genetic defect is on chromosome 17p13 involving TP53. This is not consistent with the patient’s clinical presentation.
C) Cowden’s disease usually involves breast carcinoma, and the genetic defect is on chromosome 10q23 involving PTEN. This doesn’t match the patient’s findings.
D) 22q12 is not a syndrome but a chromosomal location.
Memory Tool: APC stands for “Always Polyp Colorectal”—to remember that APC mutation primarily affects colorectal carcinoma.
Reference Citation: Table 62.2
Rationale for Information: This information is crucial for distinguishing between different tumor syndromes based on clinical presentation, genetics, and family history.
Clinical Vignette: A 35-year-old woman presents with breast carcinoma. She mentions that her mother had pancreatic cancer and her sister had breast cancer. Genetic testing reveals a mutation on chromosome 17q21.
Multiple-Choice Options:
A) MEN1
B) TP53
C) BRCA1
D) hCHK2
Correct Answer: C) BRCA1
Explanation for Answer Choices:
A) MEN1 is associated with pancreatic islet cell carcinoma but is found on chromosome 11q13. It wouldn’t explain the patient’s breast cancer and its location.
B) TP53 is related to Li-Fraumeni syndrome, which can involve breast carcinoma but is located on 17p13, not 17q21.
C) BRCA1 is the correct answer. This gene is located on chromosome 17q21 and is involved in familial breast carcinoma, fitting the patient’s presentation.
D) hCHK2 is located on 22q12 and is not associated with breast carcinoma.
Memory Tool: BRCA1 - “BR” for “Breast,” “CA” for Carcinoma, and “1” to remember it’s on 17q21.
Reference Citation: Table 62.2
Rationale for Information: Understanding gene functions and their location can be vital for the proper diagnosis and treatment planning in familial cancer syndromes.
Clinical Vignette: A 50-year-old male presents with a pancreatic islet cell carcinoma. Genetic testing shows an abnormality on chromosome 11q13.
Multiple-Choice Options:
A) APC
B) MEN1
C) PTEN
D) BRCA2
Correct Answer: B) MEN1
Explanation for Answer Choices:
A) APC is primarily associated with colorectal carcinoma and found on 5q21.
B) MEN1 is the correct answer. It is associated with pancreatic islet cell carcinoma and found on chromosome 11q13.
C) PTEN is associated with Cowden’s disease and primarily involves breast carcinoma.
D) BRCA2 is associated with familial breast carcinoma but not with pancreatic carcinoma.
Memory Tool: MEN1 - “Men eat 11 paninis” for chromosome 11 and pancreatic islet cell carcinoma.
Reference Citation: Table 62.2
Rationale for Information: The gene involved and the chromosomal location are critical for confirming a diagnosis and can have implications for other family members.
Clinical Vignette: A 55-year-old woman comes in with a history of breast carcinoma. She is worried about her children’s risk. Genetic testing reveals a mutation on chromosome 10q23.
Multiple-Choice Options:
A) Cowden’s disease
B) 22q12
C) Familial adenomatous polyposis
D) Li-Fraumeni
Correct Answer: A) Cowden’s disease
Explanation for Answer Choices:
A) Cowden’s disease is the correct answer. It is associated with breast carcinoma and has a genetic defect on chromosome 10q23 involving the PTEN gene.
B) 22q12 is not related to breast carcinoma.
C) Familial adenomatous polyposis primarily involves colorectal carcinoma and is related to chromosome 5q21.
D) Li-Fraumeni syndrome can involve breast carcinoma, but the genetic defect is on chromosome 17p13.
Memory Tool: “Cows have 10 spots” – to remember Cowden’s disease is on chromosome 10q23.
Reference Citation: Table 62.2
Rationale for Information: Knowing the gene and chromosome related to Cowden’s disease helps in counseling family members about their risks.
Clinical Vignette: A 30-year-old male presents with sarcoma. He mentions that his aunt had breast cancer and his grandfather had a sarcoma. Genetic testing reveals an abnormality on chromosome 17p13.
Multiple-Choice Options:
A) Familial retinoblastoma
B) Li-Fraumeni
C) Familial breast carcinoma
D) Cowden’s disease
Correct Answer: B) Li-Fraumeni
Explanation for Answer Choices:
A) Familial retinoblastoma involves retinoblastoma and is related to chromosome 13q14.
B) Li-Fraumeni is the correct answer. It mainly involves sarcomas and breast carcinomas and is found on chromosome 17p13.
C) Familial breast carcinoma doesn’t typically include sarcomas.
D) Cowden’s disease primarily involves breast carcinoma but not sarcoma, and it’s related to chromosome 10q23.
Memory Tool: “Li-Frau-17” – to remember Li-Fraumeni is on chromosome 17p13.
Reference Citation: Table 62.2
Rationale for Information: This question focuses on the chromosome-gene relationship for Li-Fraumeni syndrome, crucial for diagnosis and family history.
Clinical Vignette: A 48-year-old woman has a family history of various malignancies but doesn’t know specific details. Genetic testing reveals an abnormality on chromosome 22q12.
Multiple-Choice Options:
A) hCHK2
B) BRCA2
C) MEN1
D) TP53
Correct Answer: A) hCHK2
Explanation for Answer Choices:
A) hCHK2 is the correct answer. It is located on chromosome 22q12.
B) BRCA2 is related to breast carcinoma but is on chromosomes 17q21 and 13q12.
C) MEN1 is related to pancreatic islet cell carcinoma and is on chromosome 11q13.
D) TP53 is located on chromosome 17p13 and is related to Li-Fraumeni syndrome.
Memory Tool: “22 checks” - to remember that hCHK2 is on chromosome 22q12.
Reference Citation: Table 62.2
Rationale for Information: The gene involved and chromosomal location can provide insights into an array of familial malignancies the patient might be susceptible to.
Clinical Vignette: A 60-year-old male patient comes in for an evaluation of a suspicious retinal lesion. After further workup, retinoblastoma is diagnosed. Which of the following tumor syndromes is not strongly associated with genitourinary malignancies?
Multiple-Choice Options:
A) Li-Fraumeni
B) Familial adenomatous polyposis
C) Familial retinoblastoma
D) Cowden’s disease
Correct Answer: C) Familial retinoblastoma
Explanation for Answer Choices:
A) Li-Fraumeni is not primarily associated with genitourinary malignancies, but it’s not the best answer here as it involves various tumors.
B) Familial adenomatous polyposis primarily involves colorectal carcinoma, not genitourinary malignancies.
C) Familial retinoblastoma is the correct answer. It primarily involves retinoblastoma and is not strongly associated with genitourinary malignancies.
D) Cowden’s disease involves breast carcinoma and is also not strongly related to genitourinary malignancies, but the clinical vignette describes retinoblastoma.
Memory Tool: “Retina not in the groin” – to remember retinoblastoma isn’t associated with genitourinary malignancies.
Reference Citation: Table 62.2
Rationale for Information: Recognizing which syndromes are not strongly associated with genitourinary malignancies is important for a urologist in differential diagnosis.
Clinical Vignette: A 45-year-old man has a family history of colorectal carcinoma. Genetic testing reveals an abnormality in a gene that regulates β-catenin activity. Which syndrome should you suspect?
Multiple-Choice Options:
A) Cowden’s disease
B) Familial retinoblastoma
C) Familial adenomatous polyposis
D) Li-Fraumeni
Clinical Vignette: A 45-year-old man has a family history of colorectal carcinoma. Genetic testing reveals an abnormality in a gene that regulates β-catenin activity. Which syndrome should you suspect?
Multiple-Choice Options:
A) Cowden’s disease
B) Familial retinoblastoma
C) Familial adenomatous polyposis
D) Li-Fraumeni
Clinical Vignette: A 50-year-old woman presents with breast carcinoma. On genetic testing, a mutation is found in a gene responsible for DNA double-strand break repair. What is the likely syndrome?
Multiple-Choice Options:
A) Cowden’s disease
B) Familial breast carcinoma
C) Li-Fraumeni
D) Familial adenomatous polyposis
Correct Answer: B) Familial breast carcinoma
Explanation for Answer Choices:
A) Cowden’s disease involves PTEN, a phosphatase and PI3K antagonist.
B) Familial breast carcinoma is correct. It involves BRCA1 and BRCA2, which are responsible for DNA double-strand break repair.
C) Li-Fraumeni involves TP53, a transcription factor and serine kinase.
D) Familial adenomatous polyposis involves APC, which regulates β-catenin activity.
Memory Tool: “Broken DNA needs a BRA” – to remember that BRCA genes are responsible for DNA double-strand break repair.
Reference Citation: Table 62.2
Rationale for Information: Identifying the gene involved in the genetic mutation can guide diagnosis, especially in cases where multiple family members may be affected.
Clinical Vignette: A 40-year-old man comes in with pancreatic islet cell carcinoma. Genetic testing reveals a mutation on chromosome 11q13. What syndrome should be suspected?
Multiple-Choice Options:
A) Familial adenomatous polyposis
B) Multiple endocrine neoplasia type I
C) Cowden’s disease
D) Familial retinoblastoma
Correct Answer: B) Multiple endocrine neoplasia type I
Explanation for Answer Choices:
A) Familial adenomatous polyposis primarily involves colorectal carcinoma and has a genetic defect on chromosome 5q21.
B) Multiple endocrine neoplasia type I is the correct answer. It involves pancreatic islet cell carcinoma and has a genetic defect on chromosome 11q13.
C) Cowden’s disease primarily involves breast carcinoma and is related to chromosome 10q23.
D) Familial retinoblastoma involves retinoblastoma and is related to chromosome 13q14.
Memory Tool: “11 is MENt to be” – to remember Multiple endocrine neoplasia type I is related to chromosome 11q13.
Reference Citation: Table 62.2
Rationale for Information: For a urologist, knowing the gene and chromosome related to Multiple endocrine neoplasia type I is crucial in understanding the wider impact on the patient’s health.
Clinical Vignette: A 35-year-old woman with a family history of breast carcinoma undergoes genetic testing, which reveals a mutation on chromosome 17q21. Which of the following syndromes should you consider?
Multiple-Choice Options:
A) Li-Fraumeni
B) Familial retinoblastoma
C) Familial breast carcinoma
D) Cowden’s disease
Correct Answer: C) Familial breast carcinoma
Explanation for Answer Choices:
A) Li-Fraumeni syndrome has a genetic defect on chromosome 17p13, not 17q21.
B) Familial retinoblastoma is associated with chromosome 13q14.
C) Familial breast carcinoma is the correct answer. It involves a mutation on chromosome 17q21.
D) Cowden’s disease is associated with chromosome 10q23.
Memory Tool: “17 Queens of the breast” – to remember Familial breast carcinoma is on chromosome 17q21.
Reference Citation: Table 62.2
Rationale for Information: Understanding the chromosomal location helps in identifying the syndrome and its possible manifestation, especially in familial cases.
