A 33-year-old woman comes to the physician 1 week after noticing a lump in her right breast. Fifteen years ago, she was diagnosed with osteosarcoma of her left distal femur. Her father died of an adrenocortical carcinoma at the age of 41 years. Examination shows a 2-cm, firm, immobile mass in the lower outer quadrant of the right breast. A core needle biopsy of the mass shows adenocarcinoma. Genetic analysis in this patient is most likely to show a defect in which of the following genes?
ABRCA1
BKRAS
CTP53
DRb
EPTEN
A 38-year-old female presents to her primary care physician with complaints of several episodes of palpitations accompanied by panic attacks over the last month. She also is concerned about many instances over the past few weeks where food has been getting stuck in her throat and she has had trouble swallowing. She denies any prior medical problems and reports a family history of cancer in her mother and maternal grandfather but cannot recall any details regarding the type of cancer(s) or age of diagnosis. Her vital signs at today's visit are as follows: T 37.6 deg C, HR 106, BP 158/104, RR 16, SpO2 97%. Physical examination is significant for a nodule on the anterior portion of the neck that moves with swallowing, accompanied by mild lymphadenopathy. A preliminary work-up is initiated, which shows hypercalcemia, elevated baseline calcitonin, and an inappropriately elevated PTH level. Diagnostic imaging shows bilateral adrenal lesions on an MRI of the abdomen/pelvis. Which of the following is the most likely diagnosis in this patient?
AFamilial medullary thyroid cancer (FMTC)
BLi-Fraumeni syndrome
CMultiple endocrine neoplasia (MEN) IIa
DMultiple endocrine neoplasia (MEN) I
EMultiple endocrine neoplasia (MEN) IIb
Patient 1 – A 26-year-old woman presents to her primary care physician for an annual exam. She currently does not have any acute concerns and says her health has been generally well. Medical history is significant for asthma, which is managed with an albuterol inhaler. Her last pap smear was unremarkable. She is currently sexually active with one male and consistently uses condoms. She occasionally smokes marijuana and drinks wine once per week. Her mother recently passed away from advanced ovarian cancer. Her sister is 37-years-old and was recently diagnosed with breast cancer and ovarian cancer. Physical examination is remarkable for a mildly anxious woman. Patient 2 – A 27-year-old woman presents to her primary care physician for an annual exam. She says that she would like to be screened for breast cancer since two of her close friends were recently diagnosed. She noticed she has a small and mobile mass on her left breast, which increases in size and becomes tender around her time of menses. Family history is remarkable for hypertension in the father. The physical exam is significant for a small, well-defined, and mobile mass on her left breast that is not tender to palpation. Which of the following is the best next step in management for patient 1 and 2?
APatient 1 – Breast ultrasound. Patient 2 – Return in 3 months for a clinical breast exam
BPatient 1 – Reassurance. Patient 2 – Breast ultrasound
CPatient 1 – CA-125 testing. Patient 2 – BRCA testing
DPatient 1 – BRCA testing. Patient 2 – Breast ultrasound
EPatient 1 – Breast and ovarian ultrasound. Patient 2 – Mammography
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