MD - Doctor of Medicine Hematology and Oncology Questions and Answers — Questions and Answers
Question 1: A 28-year-old woman of Mediterranean descent presents with lifelong mild fatigue. A CBC reveals: Hgb 10.5 g/dL, MCV 65 fL, RBC 5.8 million/µL, and a normal RDW. Iron studies show a serum ferritin of 80 ng/mL and a transferrin saturation of 30%. Which of the following is the most likely diagnosis?
- Sideroblastic anemia
- Iron deficiency anemia
- Beta-thalassemia trait (Correct answer)
- Anemia of chronic disease
Correct answer: Beta-thalassemia trait
The patient presents with microcytic anemia (MCV < 80 fL). Key differentiating features point towards thalassemia trait: a markedly low MCV with a disproportionately high RBC count, a normal RDW, and normal iron studies. The Mentzer Index (MCV/RBC) is < 13 (65/5.8 ≈ 11.2), which is highly suggestive of thalassemia trait rather than iron deficiency anemia, where it is typically > 13. Her Mediterranean ancestry also increases the pre-test probability for beta-thalassemia.
Question 2: A 62-year-old male is undergoing surveillance after a curative resection for Stage III colon cancer one year ago. Which of the following tumor markers is most appropriate to monitor for disease recurrence in this patient?
- CA 19-9
- Alpha-fetoprotein (AFP)
- Prostate-specific antigen (PSA)
- Carcinoembryonic antigen (CEA) (Correct answer)
Correct answer: Carcinoembryonic antigen (CEA)
Carcinoembryonic antigen (CEA) is the standard tumor marker used for surveillance in patients with a history of colorectal cancer after curative treatment. A rising CEA level on serial testing can be the first sign of disease recurrence and should prompt further imaging and investigation. CA 19-9 is associated with pancreatic cancer, AFP with hepatocellular carcinoma and certain germ cell tumors, and PSA with prostate cancer.
Question 3: A 10-year-old boy presents with recurrent episodes of painful, swollen joints (hemarthrosis), particularly in his knees and ankles, after minor trauma. His laboratory studies show a prolonged activated partial thromboplastin time (aPTT) that corrects with a mixing study, a normal prothrombin time (PT), and a normal platelet count. Which of the following is the most likely diagnosis?
- Hemophilia A (Correct answer)
- Disseminated intravascular coagulation (DIC)
- Von Willebrand disease (Type 1)
- Vitamin K deficiency
Correct answer: Hemophilia A
The clinical presentation of spontaneous hemarthrosis in a male patient, combined with an isolated prolonged aPTT, is classic for Hemophilia A (Factor VIII deficiency) or Hemophilia B (Factor IX deficiency). The aPTT measures the integrity of the intrinsic pathway, which includes Factor VIII. A normal PT and platelet count make DIC and Vitamin K deficiency (which would prolong PT first) less likely. While Von Willebrand disease can sometimes present with a prolonged aPTT due to low Factor VIII levels, it is primarily a disorder of platelet adhesion, typically causing mucocutaneous bleeding rather than deep joint bleeds.
Question 4: A 55-year-old woman is receiving combination chemotherapy for breast cancer. Which of the following agents is most notoriously associated with a dose-dependent, cumulative cardiotoxicity that can lead to congestive heart failure?
- Vincristine
- Cisplatin
- Doxorubicin (Correct answer)
- Methotrexate
Correct answer: Doxorubicin
Doxorubicin, an anthracycline antibiotic, is well-known for causing dose-dependent cardiotoxicity. The risk of developing cardiomyopathy and congestive heart failure increases significantly with higher cumulative doses. Vincristine is associated with peripheral neuropathy, Cisplatin with nephrotoxicity and ototoxicity, and Methotrexate with myelosuppression and mucositis.
Question 5: A pathologist examining a lymph node biopsy from a 24-year-old male with painless cervical lymphadenopathy identifies large, binucleated cells with prominent eosinophilic nucleoli, described as having an 'owl's eye' appearance. These cells are scattered within a background of reactive lymphocytes, eosinophils, and plasma cells. This pathognomonic finding is diagnostic of which malignancy?
- Burkitt lymphoma
- Chronic lymphocytic leukemia (CLL)
- Follicular lymphoma
- Classical Hodgkin lymphoma (Correct answer)
Correct answer: Classical Hodgkin lymphoma
The described cell is a classic Reed-Sternberg cell, which is the pathognomonic hallmark of classical Hodgkin lymphoma. The 'owl's eye' appearance is due to its large size, binucleation, and prominent, inclusion-like nucleoli. The presence of these cells within a mixed inflammatory background is essential for the diagnosis.
Question 6: A 58-year-old male is diagnosed with Chronic Myeloid Leukemia (CML). Cytogenetic analysis confirms the presence of the Philadelphia chromosome. Which of the following best describes the molecular abnormality and the corresponding class of targeted therapy used as first-line treatment?
- JAK2 mutation; JAK inhibitors
- BCR-ABL fusion gene; Tyrosine kinase inhibitors (Correct answer)
- FLT3 mutation; FLT3 inhibitors
- B-Raf V600E mutation; BRAF inhibitors
Correct answer: BCR-ABL fusion gene; Tyrosine kinase inhibitors
Chronic Myeloid Leukemia (CML) is characterized by the Philadelphia chromosome, which results from a translocation between chromosomes 9 and 22. This creates the BCR-ABL fusion gene, which encodes a constitutively active tyrosine kinase, driving leukemogenesis. The mainstay of CML treatment is targeted therapy with tyrosine kinase inhibitors (TKIs), such as imatinib, which specifically block the activity of the BCR-ABL protein.
MD - Doctor of Medicine Hematology and Oncology Questions and Answers
A 28-year-old woman of Mediterranean descent presents with lifelong mild fatigue.
A CBC reveals: Hgb 10.5 g/dL, MCV 65 fL, RBC 5.8 million/µL, and a normal RDW.
Iron studies show a serum ferritin of 80 ng/mL and a transferrin saturation of 30%.
Which of the following is the most likely diagnosis?