Question

A patient presents with fever, hepatosplenomegaly, abdominal pain, and WBC count > 50,000/mm\(^3\). Which of the following genetic abnormalities is involved?

• A. t(9;22)
• B. del(1q)
• C. t(15;17)
• D. del 3q

Hint:

When a patient presents with high WBC count, hepatosplenomegaly, and abdominal pain, consider CML, especially if the Philadelphia chromosome (t(9;22)) is detected.

Answer 1

The Correct Option is A

This problem relates to the identification of a genetic abnormality based on clinical presentation and laboratory findings. The key characteristics mentioned in the scenario are:

• Fever
• Hepatosplenomegaly
• Abdominal pain
• WBC count > 50,000/mm³

These clinical features suggest a hematological disorder, likely a form of leukemia.

The genetic abnormality t(9;22) is indicative of the Philadelphia chromosome, commonly associated with Chronic Myeloid Leukemia (CML). CML is characterized by a dramatically elevated white blood cell count and an enlarged spleen (hepatosplenomegaly), which align with the patient's symptoms and lab findings.

Other genetic anomalies listed as options are:

• del(1q) – Often associated with multiple myeloma, but not typically presenting with these symptoms.
• t(15;17) – Associated with Acute Promyelocytic Leukemia (APL), marked by coagulopathy, not the predominant features described.
• del(3q) – Can be involved in various hematologic malignancies but is not specifically involved with a presentation matching this case.

Therefore, given the connection between the symptoms and the WBC count, the correct genetic abnormality involved in this case is: t(9;22).