Question:medium
A patient presents with fever, hepatosplenomegaly, abdominal pain, and WBC count > 50,000/mm\(^3\). Which of the following genetic abnormalities is involved?
A patient presents with fever, hepatosplenomegaly, abdominal pain, and WBC count > 50,000/mm\(^3\). Which of the following genetic abnormalities is involved?
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When a patient presents with high WBC count, hepatosplenomegaly, and abdominal pain, consider CML, especially if the Philadelphia chromosome (t(9;22)) is detected.
Updated On: Jun 22, 2026
- t(9;22)
- del(1q)
- t(15;17)
- del 3q
Show Solution
The Correct Option is A
Solution and Explanation
Step 1: Frame the clinical picture as a marrow problem.
A patient with fever, abdominal pain, massive hepatosplenomegaly, and a leukocyte count that has climbed above 50,000/mm$^3$ is showing a markedly proliferative bone-marrow process. A white count this high with prominent splenomegaly in particular nudges us toward a myeloproliferative leukaemia rather than a reactive leukocytosis.
A patient with fever, abdominal pain, massive hepatosplenomegaly, and a leukocyte count that has climbed above 50,000/mm$^3$ is showing a markedly proliferative bone-marrow process. A white count this high with prominent splenomegaly in particular nudges us toward a myeloproliferative leukaemia rather than a reactive leukocytosis.
Step 2: Match the count to the disease.
Of the leukaemias, the one classically presenting with an enormous spleen, constitutional symptoms, and a strikingly elevated WBC (often with a left-shifted, full spectrum of granulocyte precursors) is Chronic Myeloid Leukaemia (CML).
Of the leukaemias, the one classically presenting with an enormous spleen, constitutional symptoms, and a strikingly elevated WBC (often with a left-shifted, full spectrum of granulocyte precursors) is Chronic Myeloid Leukaemia (CML).
Step 3: Recall the molecular lesion of CML.
CML is defined by the Philadelphia chromosome, which arises from a reciprocal translocation between chromosomes 9 and 22, written $t(9;22)$. This fuses BCR on 22 with ABL1 on 9, creating a constitutively active BCR-ABL1 tyrosine kinase that drives unchecked myeloid proliferation - the very engine behind the high count and big spleen described.
CML is defined by the Philadelphia chromosome, which arises from a reciprocal translocation between chromosomes 9 and 22, written $t(9;22)$. This fuses BCR on 22 with ABL1 on 9, creating a constitutively active BCR-ABL1 tyrosine kinase that drives unchecked myeloid proliferation - the very engine behind the high count and big spleen described.
Step 4: Discard the other cytogenetic options.
• del(1q) → seen in plasma-cell and other malignancies, not this leukocytosis picture.
• $t(15;17)$ → PML-RARA fusion of acute promyelocytic leukaemia, whose hallmark is DIC/coagulopathy rather than a sky-high chronic count.
• del(3q) → a nonspecific abnormality across various haematologic disorders, not diagnostic here.
• del(1q) → seen in plasma-cell and other malignancies, not this leukocytosis picture.
• $t(15;17)$ → PML-RARA fusion of acute promyelocytic leukaemia, whose hallmark is DIC/coagulopathy rather than a sky-high chronic count.
• del(3q) → a nonspecific abnormality across various haematologic disorders, not diagnostic here.
Final answer: The translocation underlying this CML presentation is t(9;22) (Option 1).
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