ATI Hematologic System Related

Review ATI Hematologic System related questions and content

You have a new 7-year-old female patient with a WBC count of 6,000/mm3, hemoglobin of 7.2 g/dL, and platelet count of 30,000/mm3. A bone marrow aspirate reveals 14% blasts with a monocytic morphologic appearance that are surface marker positive for CD33. You receive a call from the fluorescence in situ hybridization (FISH) lab that the bone marrow is positive for KMT2A rearrangement in 68% of cells. Your staff asks whether this represents a diagnosis of acute leukemia in the current classification scheme for this type of hematologic malignancy. What would you say?

  • A. No, because for a diagnosis of acute leukemia you must have 30% or more blasts in the marrow.
  • B. No, because for a diagnosis of acute leukemia you must have 20% or more blasts in the marrow.
  • C. No, because the cytogenetics do not include +21, monosomy 7, or trisomy 8.
  • D. Yes, because the FISH is positive for KMT2A rearrangement.
Correct Answer: D

Rationale: The correct answer is D: Yes, because the FISH is positive for KMT2A rearrangement. The presence of KMT2A rearrangement in 68% of cells indicates a specific genetic abnormality associated with acute leukemia. This abnormality is a known marker for acute myeloid leukemia (AML) with recurrent genetic abnormalities. The percentage of blasts in the bone marrow (14%) may not meet the traditional criteria for a diagnosis of acute leukemia based on blast percentage alone, but the presence of KMT2A rearrangement overrides this requirement in this case. Choices A and B are incorrect because blast percentage alone is not the sole determinant of a diagnosis of acute leukemia when specific genetic abnormalities are present. Choice C is incorrect because while the absence of specific cytogenetic abnormalities may be relevant for some cases, the presence of KMT2A rearrangement is sufficient to support a diagnosis of acute leukemia in this context.