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 patient’s presentation, including fever, hepatosplenomegaly, abdominal pain, and an elevated white blood cell (WBC) count, is highly suggestive of chronic myelogenous leukemia (CML), which is associated with the Philadelphia chromosome (t(9;22)), a translocation between chromosomes 9 and 22. This genetic abnormality results in the formation of the BCR-ABL fusion gene, which leads to the overproduction of leukocytes. - del(1q) is associated with some forms of non-Hodgkin lymphoma and other hematological disorders but not with CML.
- t(15;17) is characteristic of acute promyelocytic leukemia (APL), a subtype of acute myeloid leukemia (AML), which often presents with coagulopathy and not the chronic presentation seen in this case.
- del 3q is associated with certain hematological malignancies, but it is not commonly linked to the clinical presentation described here.
The diagnosis of CML is supported by the presence of the Philadelphia chromosome (t(9;22)).