ATI Hematologic System Quizlet Related

Review ATI Hematologic System Quizlet related questions and content

You are consulted on a 4-year-old girl who is newly diagnosed with standard-risk pre-B acute lymphoblastic leukemia. After reviewing her previous complete blood examinations, you note she has had a platelet count ranging from 80,000 to 100,000 cells/mcL over the past 2 years. Her father mentions that he has also been told he has mild thrombocytopenia. You suspect the child may have a cancer predisposition syndrome. Which sample should you send for analysis, and which gene is most likely implicated?

  • A. Skin fibroblasts to evaluate the RUNX1 gene
  • B. Skin fibroblasts to evaluate the ETV6 gene
  • C. Buccal swab to evaluate the RUNX1 gene
  • D. Buccal swab to evaluate the ETV6 gene
Correct Answer: B

Rationale: The correct answer is B: Skin fibroblasts to evaluate the ETV6 gene. In this scenario, the presence of mild thrombocytopenia in both the father and the child raises suspicion of a genetic predisposition. ETV6 gene mutations are commonly associated with inherited thrombocytopenia and predisposition to leukemia. Skin fibroblasts are ideal for genetic testing due to their stable genetic material. Choice A is incorrect as RUNX1 gene mutations are linked to familial platelet disorder with predisposition to acute myeloid leukemia, not pre-B acute lymphoblastic leukemia. Choices C and D are incorrect as buccal swabs may not provide sufficient genetic material for comprehensive analysis.