Which one of the following statements regarding inherited cancer syndromes is not correct?
Breast cancer is seen in FAP syndrome.
The incorrect statement, and hence the answer, is breast cancer in FAP syndrome. Familial adenomatous polyposis is autosomal dominant, due to germline mutation of the APC gene (5q21), and causes hundreds of colorectal adenomas with nearly 100 percent risk of colorectal carcinoma if untreated. Its extracolonic associations are duodenal/periampullary carcinoma, desmoid tumours, osteomas, epidermoid cysts, CHRPE, papillary thyroid carcinoma, hepatoblastoma and medulloblastoma (Turcot). Breast carcinoma is not part of FAP; it belongs to Cowden, Peutz-Jeghers and BRCA syndromes.
The others are true. MEN type 1 (menin gene, 11q13) follows the three Ps: parathyroid hyperplasia, pancreatic islet cell tumours and pituitary adenomas. Li-Fraumeni syndrome (germline TP53) causes sarcoma, breast and adrenocortical cancer, leukaemia and brain tumours. In familial breast cancer syndrome, BRCA2 carriers have a clearly raised risk of prostate cancer, along with male breast, pancreatic and ovarian cancer.
Key point: FAP equals APC with colorectal, desmoid and periampullary disease, never breast; think BRCA for breast plus ovary plus prostate plus pancreas.
Important Questions from Tumours
Which of the following are correct regarding Li-Fraumeni syndrome?
1. It has autosomal dominant inheritance and is associated with P53 gene.
2. It has autosomal recessive inheritance and is associated with P53 gene.
3. It is associated with an increased risk of sarcomas and leukaemia.
4. It is associated with an increased risk of brain tumours and osteo- sarcomas.
Select the answer using the code given below.
- A 25 year old female patient with previous history of neck irradiation presents with thyroid swelling for last 6 months. The patient is clinically euthyroid. On examination, the right lobe of thyroid gland is enlarged with presence of ipsilateral cervical lymphadenopathy. The most probable clinical diagnosis in this patient is
Which of the following statements regarding Carcinoid tumour are correct?
1. Terminal ileum is the most common site for these tumours in the gastrointestinal tract
2. These tumors arise from Kulchitsky cells situated at the base of intestinal crypts
3. 5-Hydroxytryptamine is the most common vasoactive peptide produced by these tumors
4. Serum chromogranin A is a useful marker for disease recurrence
Select the correct answer using the code given below :
- Which one of the following is correct regarding Gastrointestinal Stromal Tumour (GIST)?
- Which one of the following is NOT associated with BRCA1/BRCA2 genes ?
