ATI RN
Hematological System Questions
Question 1 of 5
A 3-year-old boy with X-linked chronic granulomatosis disease is day +25 after haploidentical bone marrow transplant (father donor) using posttransplant cyclophosphamide as graft-versus-host disease (GVHD) prophylaxis. He engrafted on day +16 and was preparing for discharge when cytomegalovirus (CMV) was noted to be positive on PCR, and he developed a fever and mild rash. His counts have fallen to a WBC of 0.1 and he remains transfusion dependent. What diagnostic evaluations/treatments should you pursue?
Correct Answer: D
Rationale: Step-by-step rationale for correct answer D: 1. Send blood cultures to rule out bacterial infection due to fever and low WBC. 2. Start antibiotics to cover for potential bacterial infection. 3. Treat CMV with foscarnet due to positive PCR and clinical symptoms. 4. Send rapid chimerism by STR to assess for possible rejection. 5. If donor chimerism is low or absent, consider alternative donor for a second procedure. Summary of incorrect choices: A: Skin biopsy and steroids for aGHVD are not appropriate without confirming the diagnosis. B: Low blood counts are more likely due to CMV and not sepsis in this context. C: Testing for rejection is premature without addressing the immediate issues of infection and CMV.
Question 2 of 5
You are asked to evaluate a 2-day-old boy in the newborn nursery with petechiae who has a platelet count of 8,000/mcL. On further questioning, you learn that he had a maternal uncle who died of intracerebral hemorrhage as a toddler. There is no eczema on physical examination. Review of the smear shows anisocytosis; poikilocytosis; normal white blood cell morphology; and small, infrequent platelets. The neonatologists have sent human platelet antigen (HPA)-1a testing from both parents, which is pending. Which of the following is the most likely diagnosis?
Correct Answer: C
Rationale: The most likely diagnosis is Wiskott-Aldrich syndrome (C). This is supported by the presence of petechiae, low platelet count, family history of bleeding, anisocytosis, poikilocytosis, small platelets, and normal white blood cell morphology. Wiskott-Aldrich syndrome is an X-linked disorder characterized by thrombocytopenia, eczema, and recurrent infections. The absence of eczema in this case could be due to the young age of the patient. The other choices can be ruled out based on the clinical presentation and laboratory findings. Congenital infection (A) typically presents with other systemic symptoms. Neonatal alloimmune thrombocytopenia (B) usually presents with maternal history of previous pregnancies with affected infants. May-Hegglin anomaly (D) would typically present with giant platelets and Döhle-like inclusion bodies in neutrophils, which are not seen in this case.
Question 3 of 5
A 3-year-old nonsyndromic, well-appearing male with no significant past medical history presents with an abdominal mass palpated by his mother when giving him a bath. CT imaging reveals a 9-cm right renal mass without involvement of the inferior vena cava (IVC) and no evidence of tumor thrombus by ultrasound. The left kidney appears normal, and there is no imaging evidence of tumor rupture or adherence to surrounding organs. There are diffuse, bilateral pulmonary metastases from which he is asymptomatic with a normal respiratory rate and no supplemental oxygen requirement. Following the National Wilms Tumor Study Group (NWTS)/Children's Oncology Group (COG) approach to pediatric renal tumors, which of the following are appropriate next steps?
Correct Answer: B
Rationale: The correct answer is B: Nephrectomy with lymph node sampling followed by chemotherapy based on histology and stage. This is the appropriate next step following NWTS/COG approach for pediatric renal tumors. Nephrectomy is crucial to remove the primary tumor and obtain tissue for definitive histologic diagnosis. Lymph node sampling helps determine if there is spread to regional nodes. Based on the histology and stage determined post-nephrectomy, appropriate chemotherapy can be initiated tailored to the specific characteristics of the tumor. Explanation of other choices: A: Core biopsy followed by chemotherapy is not recommended as it may not provide sufficient tissue for histologic diagnosis and staging. C: Fine-needle aspiration is not adequate for a definitive diagnosis or staging and may not provide enough tissue for necessary testing. D: Neoadjuvant chemotherapy before surgery is not appropriate in this scenario as the primary tumor needs to be resected for accurate staging and histologic evaluation.
Question 4 of 5
A 7-year-old Hispanic male is referred to the hematology consult service by his pediatrician because of concern for hemoglobinopathy. In his records, you find a hemoglobin electrophoresis performed last year which shows hemoglobin A 78% and hemoglobin F 22%. His complete blood count is normal, and he has normal growth and development. Which of the following is true for this patient?
Correct Answer: D
Rationale: The correct answer is D because hereditary persistence of fetal hemoglobin (HPFH) is a condition where there is a lifelong elevation of fetal hemoglobin (HbF) levels. In HPFH, the distribution of HbF is pancellular, meaning it is present in all red blood cells. This patient's hemoglobin electrophoresis shows a significant amount of HbF (22%), which is consistent with HPFH. Choice A is incorrect because a significant elevation of HbF in a 7-year-old is not considered normal and warrants further investigation. Choice B is incorrect because delta-beta thalassemia typically presents with a different hemoglobin pattern on electrophoresis. Choice C is incorrect because delta-beta thalassemia can indeed cause microcytosis due to ineffective erythropoiesis.
Question 5 of 5
A newborn male has severe bleeding after circumcision, resulting in the need for a blood transfusion. You are called to consult on this child, and you diagnose him with severe hemophilia A. Upon taking a family history, you note that no other family members have hemophilia, other bleeding disorders, or a bleeding diathesis. Which of the following is the most likely outcome of genotyping the Factor VIII gene?
Correct Answer: C
Rationale: The correct answer is C: An inversion mutation in the F8 gene will be identified. In hemophilia A, around 50% of cases are due to large intragenic inversions involving the Factor VIII gene. In this scenario, since there is no family history of hemophilia or other bleeding disorders, the most likely genetic cause is an inversion mutation in the F8 gene. This type of mutation is not dependent on a family history and can occur spontaneously. Missense mutations (choice B) and nonsense mutations (choice D) are less common in hemophilia A and are not the typical genetic abnormalities associated with this condition. Choice A is incorrect because the absence of a family history does not rule out the possibility of a genetic mutation.