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?

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Question 1 of 5

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?

Correct Answer: B

Rationale: The correct answer is B: Skin fibroblasts to evaluate the ETV6 gene. In individuals with familial thrombocytopenia and a history of malignancy, ETV6 gene mutations are often implicated. Sending skin fibroblasts for analysis allows for genetic testing to identify any ETV6 gene mutations that may be present. Skin fibroblasts are commonly used for genetic testing as they provide a stable and reliable source of DNA. Choice A (Skin fibroblasts to evaluate the RUNXI gene) is incorrect because RUNXI gene mutations are not typically associated with familial thrombocytopenia and cancer predisposition syndromes. Choice C (Buccal swab to evaluate the RUNXI gene) is also incorrect for the same reason. Choice D (Buccal swab to evaluate the ETV6 gene) is incorrect because buccal swabs may not provide enough genetic material for comprehensive testing of the ETV6 gene, which is

Question 2 of 5

A 19-year-old freshman in college presents with 'lumps' on the right side of his neck and in the right axilla. He had a fever to 39 °C 1 day in the past week. On physical exam, there are firm anterior cervical and axillary nodes, all greater than 2 cm in diameter. A chest x-ray shows a large mediastinal mass. A biopsy of the axillary node reveals classic Hodgkin lymphoma. Which of the following symptoms revealed during the history is a B symptom?

Correct Answer: B

Rationale: The correct answer is B. In Hodgkin lymphoma, B symptoms are systemic symptoms associated with poor prognosis. Weight loss of ≥10% in the past 6 months is a B symptom. This indicates a more aggressive disease. Fever (choice A) is a general symptom. Fatigue (choice C) is common but nonspecific. Alcohol-induced pain (choice D) is not a recognized B symptom in Hodgkin lymphoma. Weight loss is a key indicator of disease severity and is classified as a B symptom.

Question 3 of 5

A 4-year-old child with acute lymphoblastic leukemia is receiving high-dose methotrexate during interim maintenance. He receives ondansetron and арrepitant during his stay, which control his nausea and vomiting well. These medications work by inhibiting signaling in which part of the brain?

Correct Answer: E

Rationale: The correct answer is D: Vomiting center. Ondansetron and aprepitant are antiemetic medications that work by inhibiting signaling in the vomiting center of the brain. The vomiting center is located in the medulla oblongata in the brainstem, which plays a crucial role in triggering the reflexes that lead to nausea and vomiting. By blocking signals in the vomiting center, these medications effectively prevent and control nausea and vomiting. Incorrect choices: A: The vestibular system is responsible for balance and spatial orientation, not for controlling nausea and vomiting. B: The cerebral cortex is involved in higher brain functions such as thinking and decision-making, not in regulating nausea and vomiting. C: The hypothalamus regulates various physiological processes like temperature regulation and hormone release, but it is not directly involved in controlling nausea and vomiting.

Question 4 of 5

A 4-year-old boy is pale with intermittent jaundice and splenomegaly. Laboratory results are as follows: RBC 4.85 M/mcL (N); Hgb 8.6 g/dL (L); Hct 25.8% (L); MCV 81.6 (N); MCHC 38% (H); RDW 20% (H); Retic 7% (H). What are the two best tests to distinguish autoimmune hemolytic anemia from hereditary spherocytosis?

Correct Answer: E

Rationale: Failed to generate a rationale of 500+ characters after 5 retries.

Question 5 of 5

An 18-year old male patient with acute lymphoblastic leukemia recently started maintenance therapy and is complaining of increased hip pain. The pain increases during weight-bearing activity; however, it occasionally hurts at night as well. His CBCd is normal. Which of the following risk factors is most commonly associated with this process?

Correct Answer: D

Rationale: The correct answer is D: Dexamethasone exposure. Dexamethasone is a corticosteroid commonly used in the treatment of acute lymphoblastic leukemia. It can cause avascular necrosis of the hip due to its effect on bone metabolism, leading to increased hip pain during weight-bearing activities. This is a known side effect seen more commonly in patients exposed to dexamethasone. Incorrect Choices: A: Younger age at diagnosis - Age is not a known risk factor for avascular necrosis in this context. B: Non-White race - Race is not a known risk factor for avascular necrosis in this context. C: Low body-mass index - Body mass index is not a known risk factor for avascular necrosis in this context.

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