Questions from standard medical textbooks with detailed explanations
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Unlock PremiumQ60142. A 55-year-old woman presents with increasing weight loss and fatigue and subsequently dies of metastatic cancer. The vertebral column at autopsy is shown in the image. What is the diagnosis?
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Q60143. A 42-year-old man presents with upper gastrointestinal bleed- ing. Upper endoscopy and biopsy reveal gastric adenocarci- noma. Which country of the world has the highest incidence of this malignant neoplasm?
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Q60144. An 8-year-old girl with numerous hypopigmented, ulcer- ated, and crusted patches on her face and forearms develops an indurated, crater-like, skin nodule on the back of her left hand. Biopsy of this skin nodule discloses a squamous cell car- cinoma. Molecular biology studies reveal that this patient has germline mutations in the gene encoding a nucleotide exci- sion repair enzyme. What is the appropriate diagnosis?
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Q60145. A 59-year-old woman complains of “feeling light-headed” and los- ing 5 kg (11 lb) in the last month. A CBC reveals a normocytic, normochromic anemia. The patient subsequently dies of metastatic cancer. Based on current epidemiologic data for cancer-associated mortality in women, which of the following is the most likely pri- mary site for this patient’s malignant neoplasm?
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Q60146. The parents of a 6-month-old girl palpate a mass on the left side of the child’s abdomen. Urinalysis shows high lev- els of vanillylmandelic acid. A CT scan reveals an abdominal tumor and bony metastases. The primary tumor is surgically resected. Histologic examination of the surgical specimen dis- closes neuroblastoma. Evaluation of the N-myc protooncogene in this child’s tumor will most likely demonstrate which of the following genetic changes?
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Q60147. A 2-year-old boy is found to have bilateral retinal tumors. Molecular studies demonstrate a germline mutation in one allele of the Rb gene. Which of the following genetic events best explains the mechanism of carcinogenesis in this patient?
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Q60148. A 48-year-old nulliparous woman complains that her men- strual blood fl ow is more abundant than usual. An ultrasound examination reveals a polypoid mass in the uterine fundus. The patient subsequently, undergoes a hysterectomy, which reveals a poorly differentiated endometrial adenocarcinoma. The devel- opment of this neoplasm was preceded by which of the follow- ing histopathologic changes in the glandular epithelium?
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Q60149. A 45-year-old woman presents with abdominal pain and vaginal bleeding. A hysterectomy is performed and shows a benign tumor of the uterus derived from a smooth muscle cell. What is the appropriate diagnosis?
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Q60150. Cytogenetic studies in a 70-year-old woman with chronic myelogenous leukemia (CML) demonstrate a t(9;22) chromo- somal translocation. Which of the following best explains the role of this translocation in the pathogenesis of leukemia in this patient?
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Q60151. A 33-year-old woman presents with a diffuse scaly skin rash of 4 weeks duration. Biopsy of lesional skin reveals a cutaneous T-cell lymphoma (mycosis fungoides). Which of the following immunohistochemical markers would be most useful for identifying malignant cells in the skin of this patient?
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Q60152. A 63-year-old woman with chronic bronchitis presents with shortness of breath. A chest X-ray reveals a 2-cm “coin lesion” in the upper lobe of the left lung. A CT-guided lung biopsy is obtained. Which of the following describes the histologic features of this lesion if the diagnosis is hamartoma?
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Q60153. A 4-year-old girl presents for a preschool physical examination. The child has a small head circumference, thin upper lip, and low-bridge nose. She shows evidence of mild mental retardation. Her parents state that she is often “emotional.” Which of the following maternal causes of birth defects most likely accounts for these clinicopathologic fi ndings?
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Q60154. A 12-month-old boy is brought to the emergency room for examination of his right arm following a tumble at home. Radiologic examination of the limb reveals a recent fracture of the right ulna and evidence of additional healing fractures. The child is noted to have blue sclerae. This patient most likely carries a mutation in a gene that encodes which of the following proteins?
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Q60155. A 28-year-old woman gives birth to a stillborn with a severe neural tube defect (neonate shown in the image). This birth defect was caused by an error of morphogenesis that occurred at which of the following stages of development after fertilization?
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Q60156. A 20-year-old man is examined by a new family physician who discovers numerous pigmented patches and pedunculated skin tumors on his chest. Biopsy of a tumor discloses a benign neoplasm derived from Schwann cells. Neither the patient’s father nor mother shows signs of this disease. This patient most likely carries a mutation in a gene that encodes which of the following proteins?
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Q60157. The patient described in Question 4 is at increased risk of developing which of the following malignant neoplasms?
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Q60158. A 25-year-old pregnant woman, at 16 weeks of gestation, visits her obstetrician. A screening test suggests the possibility of a neural tube defect in her fetus. An ultrasound examination shows a 3-cm neural tube defect in the thoracic spine. The screening test that was administered to the mother measured serum levels of which of the following proteins?
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Q60159. The patient described in Question 11 carries mutations in the gene that encodes which of the following types of protein?
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Q60160. A 10-year-old child presents with xanthomas on the extensor surfaces of his forearms. Laboratory studies demonstrate a total serum cholesterol of 820 mg/dL. The child’s mother and maternal grandfather also have elevated serum cholesterol. This patient most likely has mutations in the gene that encodes which of the following proteins involved in lipid metabolism?
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Q60161. A 10-month-old boy who was adopted from an orphanage in Eastern Europe presents for a physical examination. His parents believe that he is failing to meet developmental milestones. The child is fair skinned and has blond hair. On physical examination, the patient is noted to have a “mousy” odor. Laboratory studies demonstrate an inborn error of amino acid metabolism. To prevent mental retardation, this patient should be placed on a special diet that lacks which of the following essential amino acids?
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