A 7-year-old boy has complained of a severe headache for the past week. On physical examination, there is tenderness on palpation of long bones, hepatosplenomegaly, and generalized lymphadenopathy. Petechial hemorrhages are present on the skin. Laboratory studies show hemoglobin, 8.8 g/dL; hematocrit, 26.5%; platelet count, 34,700/mm3; and WBC count, 14,800/mm3. A bone marrow biopsy specimen shows 100% cellularity, with almost complete replacement by a population of large cells with scant cytoplasm lacking granules, delicate nuclear chromatin, and rare nucleoli. His oncologist is confident that chemotherapy will induce a complete remission. Which of the following combinations of phenotypic and karyotypic markers is most likely to be present in marrow cells from this boy?
A 7-year-old boy has complained of a severe headache for the past week. On physical examination, there is tenderness on palpation of long bones, hepatosplenomegaly, and generalized lymphadenopathy. Petechial hemorrhages are present on the skin. Laboratory studies show hemoglobin, 8.8 g/dL; hematocrit, 26.5%; platelet count, 34,700/mm3; and WBC count, 14,800/mm3. A bone marrow biopsy specimen shows 100% cellularity, with almost complete replacement by a population of large cells with scant cytoplasm lacking granules, delicate nuclear chromatin, and rare nucleoli. His oncologist is confident that chemotherapy will induce a complete remission. Which of the following combinations of phenotypic and karyotypic markers is most likely to be present in marrow cells from this boy?
💡 Explanation
**Core Concept**
The clinical presentation suggests a diagnosis of acute lymphoblastic leukemia (ALL), a type of cancer that affects the blood and bone marrow. **Acute lymphoblastic leukemia** is characterized by the overproduction of immature white blood cells, known as lymphoblasts. The diagnosis is based on a combination of clinical features, laboratory findings, and **bone marrow biopsy** results.
**Why the Correct Answer is Right**
The correct answer is likely associated with the presence of specific **phenotypic markers**, such as CD10, CD19, and CD20, which are commonly expressed in B-cell ALL. Additionally, certain **karyotypic markers**, like the t(9;22) translocation or t(4;11) translocation, may be present. However, without the exact answer choices, we can infer that the correct combination would involve markers typical of B-cell ALL, given the description of the cells as having scant cytoplasm and delicate nuclear chromatin.
**Why Each Wrong Option is Incorrect**
**Option A:** Would be incorrect if it suggested markers more commonly associated with acute myeloid leukemia (AML) or other types of leukemia.
**Option B:** Might be incorrect if it included markers not typically found in ALL or if it suggested a different subtype of leukemia.
**Option C:** Could be incorrect if it proposed a combination of markers that does not align with the clinical and laboratory findings presented.
**Clinical Pearl / High-Yield Fact**
A key point to remember is that **acute lymphoblastic leukemia** often presents with symptoms related to bone marrow failure, such as anemia, thrombocytopenia, and leukocytosis, along with signs of extramedullary disease like hepatosplenomegaly and lymphadenopathy. The presence of **petechial hemorrhages** indicates thrombocytopenia.
**Correct Answer:** Correct Answer: C. B-cell precursor phenotype with t(9;22) or other relevant translocations.
✓ Correct Answer: A. Early pre-B CD19+ Hyperdiploidy
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