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This patient is positive for mutations in the BRCA1 gene
8%
313/3739
The patient is positive for mutations in the APC gene and has a positive guaiac-based fecal occult blood test (gFOBT)
34%
1272/3739
The patient has a 30 pack year smoking history
6%
242/3739
The patient presents with an ataxic gait, limb weakness, and is found to have a mutations of the von Hippel–Lindau tumor suppressor (VHL) gene
36%
1343/3739
The patient presents with confusion, generalized weakness, and total serum calcium level of 12.1 mmol/L
15%
543/3739
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This patient's imaging demonstrates the winking owl sign which signifies the destruction of the pedicle which may be caused by spinal metastases. Patients with mutations in the APC and a positive gFOBT likely have colon cancer, which rarely metastasizes to the spine, and therefore of the statements list this is LEAST likely to be true. Metastatic cancer is the most common reason for a destructive bone lesion in adults (>40). Bone is also the third most common site for metastatic disease after the lung and liver. Common sites of metastatic lesions to the bone in descending frequency: spine, proximal femur, and humerus. The most common site in the spine for metastasis is the thoracic spine. Carcinomas that spread to bone are breast, lung, thyroid, renal, and prostate. White et al. in a review of metastatic diseases of the spine, report that the primary tumors to most likely metastasize to the spine are breast (16% to 37% of breast cancer patients develop spine metastases), prostate (9% to 15%), lung (12% to 15%), kidney (3% to 6%), and thyroid (4%). Symptomatic lesions typically are found in the thoracic (68% to 70%), lumbosacral (16% to 22%) and cervical (8% to 15%) spine. They also report that the lysis of pedicular cortical bone is classically recognized as the “winking owl” sign on anteroposterior radiographs Figures A and B are AP and lateral radiographs of the lumbar spine demonstrating the winking owl sign at the left L1 pedicle. Illustration A is a labeled radiograph of the winking owl sign. Incorrect Answers: Answer 1: Patients with mutations in the BRCA1 gene are at risk for developing breast cancer. Answer 3: Patients with a 30 pack year smoking history are at risk for developing lung cancer. Answer 4: Patients with Von Hippel-Lindnau disease are at risk for developing renal cell carcinoma. Answer 5: Hypercalcemia may be seen in patients with malignancies.
2.2
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