ATI RN
The Hematologic System ATI Questions
Question 1 of 5
You are consulting on a 10-year-old male with severe persistent neutropenia, a history of recurrent infections, and warts. The rest of the peripheral blood count is normal. His mother also has neutropenia. Bone marrow examination shows a hypercellular marrow and retained myeloid cells with vacuolated cytoplasm. There are no abnormalities in the red cells or platelet precursors. Cytogenetics are 46XY. You start granulocyte colony stimulating factor therapy and the neutrophil count increases. A mutation in which of the following genes is most likely to have caused this familial inherited bone marrow failure syndrome?
Correct Answer: A
Rationale: The correct answer is A: CXCR4. In this case, the familial inherited bone marrow failure syndrome with severe neutropenia, recurrent infections, and warts suggests WHIM syndrome. WHIM syndrome is caused by a gain-of-function mutation in the CXCR4 gene, leading to impaired neutrophil trafficking. The symptoms and bone marrow findings in this patient align with WHIM syndrome. Choice B (ELANE) is associated with cyclic neutropenia, not WHIM syndrome. Choice C (GATA 2) is linked to familial myelodysplastic syndromes and acute myeloid leukemia, not WHIM syndrome. Choice D (Mitochondrial DNA) is not associated with WHIM syndrome. Therefore, the mutation in CXCR4 is the most likely cause of the familial inherited bone marrow failure syndrome in this patient.
Question 2 of 5
You have been asked to see a 15-year-old girl who is being referred for evaluation of an ovarian mass. Her history is also significant for secondary amenorrhea, and physical examination shows signs of virilization. As you review her family history, what syndrome will you consider?
Correct Answer: B
Rationale: The correct answer is B: DICER-1 syndrome. This syndrome is associated with ovarian tumors, secondary amenorrhea, and signs of virilization. DICER-1 gene mutations can lead to the development of Sertoli-Leydig cell tumors, which can present with these symptoms in adolescent girls. Li-Fraumeni syndrome (A) is characterized by a predisposition to various cancers but not specifically ovarian tumors. Turner syndrome (C) is associated with ovarian dysgenesis leading to primary amenorrhea, not secondary amenorrhea and virilization. Beckwith-Wiedemann syndrome (D) is a genetic overgrowth syndrome with a risk of embryonal tumors but not typically ovarian masses with virilization.
Question 3 of 5
You are seeing a 12-year-old female who presented to the emergency department with the sudden onset of severe abdominal pain. Imaging that was obtained to rule out appendicitis revealed a mass adjacent to the bladder. The mass was surgically resected, and pathology demonstrated a paraganglioma. Which of the studies below would be most useful to determine disease stage for this patient?
Correct Answer: D
Rationale: The correct answer is D: Ga 68-DOTATATE PET/CT. This imaging study is the most useful for determining the disease stage in a patient with paraganglioma. Paragangliomas are neuroendocrine tumors that express somatostatin receptors, which can be detected using Ga 68-DOTATATE PET/CT. This imaging modality helps to localize primary and metastatic lesions, as well as assess disease extent and stage. Now let's analyze the other options: A: Bone Scan - Not useful for determining disease stage in paraganglioma. B: Lumbar puncture for cerebrospinal fluid cytology - Not indicated for staging paraganglioma. C: Bone marrow aspirate and biopsy - Not specific for staging paraganglioma. In summary, Ga 68-DOTATATE PET/CT is the most appropriate study for determining disease stage in a patient with paraganglioma due to its
Question 4 of 5
A 2-month-old girl is found to have a small, hard mass on her scalp. The mass increases in size over the next 4 weeks. A biopsy is performed that confirms a diagnosis of embryonal rhabdomyosarcoma. You initiate chemotherapy with vincristine, dactinomycin, and cyclophosphamide. The child presents to clinic for day 1 of cycle 3 of chemotherapy, and the mass on her scalp is smaller. She is afebrile, absolute neutrophil count is 1,405 cells/mcL, platelet count is 154,000/mcL, and total bilirubin is 0.8 mg/dL. Her mother reports she looks very tired because her eyelids have been 'very droopy,' and she thinks she has a sore throat because her cry is hoarse. Her last bowel movement was 2 days ago. What is the most appropriate chemotherapy plan?
Correct Answer: C
Rationale: The correct answer is C because the child is showing signs of vincristine-induced neurotoxicity, which can manifest as droopy eyelids (ptosis) and hoarse cry. Holding vincristine and reevaluating weekly allows for monitoring of symptoms. If resolved, vincristine can be resumed with a dose reduction to prevent further neurotoxicity. Dactinomycin and cyclophosphamide are continued to maintain treatment efficacy. Continuing full-dose vincristine (choice A) can worsen neurotoxicity. With rhabdomyosarcoma responding to the current regimen, stopping all chemotherapy (choice B) is not appropriate. Discontinuing vincristine permanently (choice D) may compromise the treatment plan.
Question 5 of 5
Which of the following is a key feature of Factor XIII?
Correct Answer: A
Rationale: Factor XIII has a long half-life of about 10 days, allowing it to play a crucial role in stabilizing fibrin clots. This extended lifespan contributes to the maintenance of clot integrity over time. The other choices are incorrect because Factor XIII is not an activator of thrombin (B), its levels are low in newborns and gradually increase (C), and it is not part of the contact activation system (D).