10 USMLE Pathology, Hematology and Genetics Quick Review Questions with Answers (Set 5)

These 10 quick USMLE review questions test high-yield facts that show up again and again on the exam: PTHrP, anemia in kidney disease, Barrett esophagus, colorectal cancer genes, NK cells, X-linked inheritance, Hodgkin lymphoma, McArdle disease, Fanconi anemia and testicular tumors. Each question includes the correct answer.

Written by Dr. Ray Makar, MD, author of the Repeated USMLE Questions eBook series.

Prefer video? Watch daily USMLE case questions on MedFocus by Dr. Ray on YouTube.

How to use this page: read the question, pick your answer, then tap Show Answer and Explanation.

Questions

Question 1. Paraneoplastic hypercalcemia is most likely caused by tumor cells secreting which one of the following substances?

A- Calcitonin
B- Calcitonin-related peptide
C- Parathyroid hormone
D- Parathyroid hormone-related peptide

D- Parathyroid hormone-related peptide- The tumors associated with this condition include squamous cell carcinoma of the lung, endometrial carcinoma and transitional carcinoma of the urinary bladder. PTHrP is recognized by the receptors for PTH which leads to hypercalcemia.
The correct answer is D

 

Question 2. Which one of the following is the most common cause of anemia in a patient with progressive chronic kidney disease?

A- Blood loss
B- Erythropoietin deficiency
C- Frequent hematuria
D- Iron deficiency anemia

B- Erythropoietin deficiency- The kidneys make erythropoietin, which stimulates red blood cell production. In chronic kidney disease its production falls, causing a normocytic, normochromic anemia. Iron deficiency (from blood loss or poor absorption) often coexists and should be corrected before or during erythropoietin therapy.
The correct answer is B

 

Question 3. In a case of Barrett esophagus, the normal tissue of the distal part of the esophagus is transferred into which of the following type of tissues?

A- Ciliated columnar epithelium
B- Keratinized squamous epithelium
C- Non-ciliated columnar epithelium
D- Non-keratinized squamous epithelium

C- Non-ciliated columnar epithelium- the normal lining of the esophagus is non-keratinizing squamous epithelium which transferred into non-ciliated columnar epithelium
The correct answer is C

 

Question 4. Which one of the following tumors is commonly associated with mutations affecting the tumor suppressor gene (APC) and TP53?

A- Colorectal adenocarcinoma
B- Hepatocellular carcinoma
C- Invasive ductal carcinoma of the breast
D- Small cell carcinoma of the lung

A- Colorectal adenocarcinoma- It commonly affects the intestinal epithelium of the colon and rectum. It counts for 95% of colorectal cancers.
The correct answer is A

 

Question 5. Which one of the following types of cells is programmed to destroy cells that fail to display MHC class 1 antigen properly?

A- B lymphocyte
B- CD4 lymphocyte
C- CD8 lymphocyte
D- Natural killer cells

D- Natural killer cells- These cells play an important role in clearing viral infections if the virus downregulates MHC expression.
The correct answer is D

 

Question 6. A woman, tested genetically for glucose-6-phosphate dehydrogenase deficiency, is found to have only one defective X chromosome. She is married to a man with normal X chromosome. She is pregnant with a female fetus. Which of the following is most likely expected in her baby girl?

A- The baby has 100% chance to clinically have the disease
B- The baby has 50% chance to clinically have the disease
C- The baby has no chance to be a carrier
D- The baby has 50% chance to be a carrier

D- The baby has 50% chance to be a carrier- The father has 1 normal X chromosome. The mother has one normal and one abnormal so, the rate to be X normal and X abnormal is 50%.
The correct answer is D

 

Question 7. Which of the following is characteristic of Hodgkin lymphoma and differentiates it from non-Hodgkin lymphoma?

A- Affects mostly old age
B- Associated with HIV and autoimmune diseases
C- Peripheral nodes are most likely involved
D- Reed-Sternberg cells

D-Reed-Sternberg cells- These cells are characteristic of Hodgkin lymphoma. Non-Hodgkin lymphoma contains mainly B cells and sometimes T cells.
The correct answer is D

 

Question 8. Which one of the following enzymes is most likely deficient in a case of McArdle disease (type V of glycogen storage diseases)?

A- α-1,4- glucosidase
B- Debranching enzyme
C- Glucose-6-phosphatase
D- Myophosphorylase

D- Myophosphorylase- It is skeletal muscle glycogen phosphorylase. Its deficiency leads to accumulation of glycogen in muscles. 3M, McArdle, Myophosphorylase and Muscle. Blood glucose level is not affected.
The correct answer is D

 

Question 9. Which one of the following types of anemia is associated with absent thumbs, café au lait spots, microcephaly and pancytopenia?

A- Aplastic anemia due to parvovirus B19
B- Diamond-Blackfan anemia
C- Fanconi anemia
D- Iron-deficiency anemia

C- Fanconi anemia- It is also associated with absent radii and hyperpigmentation. It is a rare genetic disease characterized by bone marrow failure and developmental abnormalities.
The correct answer is C

 

Question 10. A 22-year-old man complains of enlarged left testicle. Serum AFP is elevated. His physician decides to perform surgery as this tumor is aggressive and not radiosensitive. Which of the following is the type of this tumor?

A- Embryonal carcinoma
B- Leydig cell tumor
C- Seminoma
D- Sertoli cell tumor

A-Embryonal carcinoma- It is the most aggressive and characterized by high level of serum AFP. Surgery is the first line of treatment as it metastasizes very early and it is not radiosensitive.
The correct answer is A

 

High-yield points from this set

  • Paraneoplastic hypercalcemia is usually caused by PTH-related peptide.
  • Barrett esophagus = squamous lining replaced by columnar epithelium with goblet cells.
  • Reed-Sternberg cells characterize Hodgkin lymphoma.
  • Fanconi anemia: absent thumbs, café-au-lait spots and marrow failure.

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