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 why answer D is correct: 1. Send blood cultures: To rule out bacterial infection as a potential cause of fever and rash. 2. Start antibiotics: To cover for possible bacterial infection given the clinical presentation. 3. Treat CMV with foscarnet: As the patient is CMV positive on PCR and has developed symptoms, indicating active CMV infection. 4. Send rapid chimerism by STR: To assess for possible rejection post-transplant. Low or absent donor chimerism may indicate rejection. 5. If donor chimerism is low or absent: Consider the need for alternative donor for a second procedure to address rejection. Summary: - Choice A is incorrect because steroids for aGHVD are not indicated without confirming the diagnosis first. - Choice B is incorrect as the low blood counts are more suggestive of a different underlying cause rather than sepsis. - Choice C is incorrect as rapid FISH chimerism is not the standard method for assessing rejection
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 in this case is Wiskott-Aldrich syndrome (C). This is because the patient presents with petechiae, low platelet count, anisocytosis, poikilocytosis, and small, infrequent platelets, which are all characteristic of this X-linked recessive disorder. Additionally, the family history of intracerebral hemorrhage in a young child is suggestive of a bleeding disorder. The absence of eczema helps differentiate Wiskott-Aldrich syndrome from other conditions like thrombocytopenia-absent radius syndrome. The pending HPA-1a testing is likely to confirm the diagnosis by ruling out neonatal alloimmune thrombocytopenia (B). Congenital infection (A) would typically present with other symptoms, and May-Hegglin anomaly (D) is characterized by Döhle-like basophilic cytoplasmic inclusions in neutrophils, which are not described 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 in managing this patient with a Wilms tumor. Nephrectomy is the primary treatment for Wilms tumor to remove the primary tumor and obtain tissue for histologic diagnosis. Lymph node sampling helps determine if there is any spread of the tumor. Chemotherapy based on histology and stage is tailored to the specific characteristics of the tumor and extent of disease. Choice A (Core biopsy of the renal mass followed by three drug chemotherapy) is incorrect because core biopsy may not provide enough tissue for a definitive diagnosis, and treatment should be guided by surgical resection. Choice C (Fine-needle aspiration followed by chemotherapy) is incorrect because fine-needle aspiration may not provide adequate tissue for diagnosis, and surgical resection is needed for definitive management. Choice D (Neoadjuvant chemotherapy followed by nephrectomy) is incorrect because nephrectomy is
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: Hereditary persistence of fetal hemoglobin results in pancellular hemoglobin F distribution. In this case, the patient's elevated hemoglobin F level (22%) is indicative of hereditary persistence of fetal hemoglobin. This condition is characterized by the continued presence of fetal hemoglobin into adulthood, leading to a pancellular distribution of hemoglobin F. This explains the high hemoglobin F percentage despite the patient's age. Choice A is incorrect because the elevated hemoglobin F level is not normal in a 7-year-old child. Choice B is incorrect because delta-beta thalassemia typically presents with a different hemoglobin electrophoresis pattern. 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, about 50% of cases result from inversion mutations in the F8 gene. In this case, since there is no family history of hemophilia or other bleeding disorders, the most likely scenario is a de novo genetic mutation, such as an inversion mutation. This type of mutation can occur spontaneously and is not inherited from parents. Therefore, genotyping the Factor VIII gene in this newborn male with severe hemophilia A is likely to reveal an inversion mutation as the underlying genetic cause. Choice A is incorrect because the absence of a family history does not rule out the presence of a de novo mutation. Choice B (missense mutation) and Choice D (nonsense mutation) are less likely in hemophilia A compared to inversion mutations. Missense and nonsense mutations are more commonly associated with other genetic conditions or types of hemophilia.