A 38-year-old woman presents with repeated episodes of sore throat. She is on no medications, does not use ethanol, and has no history of renal disease. Physical examination is normal. Hgb is 9.0 g/dL, MCV is 85 fL (normal), white blood cell count is 2000/µL, and platelet count is 30,000/µL.
Which of the following is the best approach to diagnosis?
This patient has an unexplained pancytopenia. If all three elements (red blood cells, white blood cells, and platelets) are affected, the cause is usually in the bone marrow (although peripheral destruction from hypersplenism can cause pancytopenia as well). In this patient without a history of liver disease or palpable splenomegaly on physical examination, a bone marrow production problem is the most likely culprit. Although B12 deficiency can cause pancytopenia, usually a macrocytic anemia is the most prominent feature; a serum B12 level would be reasonable, but the most productive approach would be to examine the bone marrow. Leukemia can present without leukocytosis (so-called aleukemic leukemia), but the most likely diagnosis would be aplastic anemia. In the elderly patient, myelodysplastic syndrome (MDS) may present with pancytopenia. Decreased levels of erythropoietin can cause decreased RBC production, but will not cause pancytopenia. A corticosteroid trial is not warranted until a diagnosis is established.
A 50-year-old woman presents with abdominal fullness, vague abdominal pain, and constipation. She had colonoscopy 7 years ago that was normal. She has a 20-packyear smoking history but quit 10 years ago. She cannot recall any family history of cancer. Pelvic examination reveals left adnexal fullness. Her BMI is 40.
What is the most appropriate next step in the evaluation of this patient?
An important consideration in this patient is the possibility of ovarian cancer. Pelvic ultrasound is the first imaging study that should be performed. CA-125 levels are not specific for ovarian cancer, and can be elevated in other conditions such as leiomyoma, endometriosis, pregnancy, and liver disease. If ultrasonography suggests an ovarian mass, a CT scan of abdomen and pelvis would be performed to detect metastatic disease. Pelvic ultrasound is a better first test because it is simpler, cheaper, and does not involve radiation exposure. Debulking surgery and staging is usually done after the imaging studies have been completed. Risk factors for ovarian cancer include advanced age, family and personal history of ovarian cancer, genetics (such as BRCA1 and 2, Lynch type 2 syndrome), obesity, smoking, and nulliparity. Since this patient has several risk factors as well as a finding of adnexal fullness on pelvic examination, reassurance with follow-up may delay appropriate treatment.
A 52-year-old man with cirrhosis resulting from chronic hepatitis C presents with increasing right upper quadrant pain, anorexia, and 15-lb weight loss. The patient is mildly icteric and has moderate ascites. A friction rub is heard over the liver. Abdominal paracentesis reveals blood-tinged fluid, and CT scan shows a 4-cm solid mass in the right lobe of the liver.
Which of the following is the most important initial diagnostic study?
This patient has probably developed hepatocellular carcinoma (HCC) as a complication of his macronodular cirrhosis. HCC is a feared complication of patients with cirrhosis resulting from hepatitis B, hepatitis C, and hemochromatosis (although it occurs with modestly increased frequency in patients with alcoholic cirrhosis as well). The incidence in high-risk patients is 3% per year. An α-fetoprotein (AFP) level greater than 500 µg/L is suggestive, and greater than 1000 μg/L virtually diagnostic, of this tumor. In patients with cirrhosis, elevated AFP, and tumors that are greater than 2 cm in size with typical CT appearance, diagnosis can be made without biopsy. Most patients will die within 6 months if untreated; resection of the tumor is often difficult due to the underlying liver disease. Liver transplantation can be curative in selected patients. If the α-fetoprotein is unexpectedly normal, CT-guided biopsy of the lesion would be more productive than a blind search (EGD, colonoscopy) for a primary tumor. PET scans are very expensive and would be unlikely to provide information that would change his management.
A 60-year-old man presents with dull aching pain in the right flank. Physical examination reveals a firm mass that does not move with inspiration. Laboratory studies show normal BUN, creatinine, and electrolytes. UA shows hematuria. Hemoglobin is elevated at 18 g/dL and serum calcium is 11 mg/dL.
What is the most likely diagnosis?
Renal cell carcinoma is twice as common in men as women and tends to occur in the 50- to 70-year age group. Many patients present with hematuria or flank pain, but the classic triad of hematuria, flank pain, and a palpable flank mass occurs in only 10% to 20% of patients. Paraneoplastic syndromes such as erythrocytosis, hypercalcemia, hepatic dysfunction, and fever of unknown origin are common. Surgery is the only potentially curable therapy; the results of treatment with chemotherapy or radiation therapy for nonresectable disease have been disappointing. Interferon-alpha and interleukin-2 produce responses (but no cures) in 10% to 20% of patients. Newer tyrosine kinase inhibitors (eg, sunitinib) are active against renal cell cancers and hold promise for more effective treatment. The prognosis for metastatic renal cell carcinoma is dismal. Pheochromocytoma can cause erythrocytosis and occasionally hypercalcemia but would not cause hematuria or an intrarenal mass. Polycystic kidney disease can cause erythrocytosis because of erythropoietin production by the cysts but would cause numerous bilateral cysts, not a solid mass. Renal adenomyolipoma is a benign tumor that can present as a solitary renal mass on ultrasound. It has a characteristic CT appearance due to fat in the tumor. Neither renal adenomyolipoma nor adrenal carcinoma would cause erythrocytosis or hypercalcemia.
A 64-year-old woman who is receiving chemotherapy for metastatic breast cancer has been treating midthoracic pain with acetaminophen. Over the past few days she has become weak and unsteady on her feet. On the day of admission she develops urinary incontinence. Physical examination reveals fist percussion tenderness over T8 and moderate symmetric muscle weakness in the legs. Anal sphincter tone is reduced.
Which of the following diagnostic studies is most important to order?
Spinal cord compression is an oncologic emergency. Major neurological deficit is often irreversible and severely compromises the patient’s remaining quality of life. Vertebral and then epidural involvement precede the neurological findings; the thoracic cord is involved 70% of the time. The patient is often given high-dose dexamethasone before being sent for MRI. In the presence of neurological compromise, the definitive test, MRI scan, should be performed as quickly as possible. Multiple epidural metastases are noted in 25% of patients; their presence can affect treatment (eg, the extent of radiation therapy fields). If no neurological abnormalities are present, most experts recommend plain radiographs of the painful vertebra as the initial diagnostic test. A radionuclide bone scan would reveal the vertebral involvement but would not show the degree of spinal cord compromise. Electromyogram and nerve conduction studies would be normal in spinal cord disease. Bone scan and thoracic spine films are less specific than MRI. Hypercalcemia might cause confusion but not spinal cord signs.
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