Common pediatric cancers Practice Questions

Q: A newborn is delivered at 38 weeks gestation to a 28-year-old mother via spontaneous vaginal delivery. On examination in the delivery room, the infant has upslanting palpebral fissures, a flat nasal bridge, a single palmar crease bilaterally, and marked hypotonia. A harsh holosystolic murmur is heard at the left lower sternal border. The pediatric cardiology team is notified. Which of the following chromosomal findings is most consistent with this clinical presentation?

47,XY,+21. ***47,XY,+21*** - The clinical constellation of **upslanting palpebral fissures**, **flat nasal bridge**, **single palmar creases**, and **marked hypotonia** is classic for **Trisomy 21 (Down syndrome)**. - The **harsh holosystolic murmur** at the left lower sternal border most likely indicates a **ventricular septal defect (VSD)** or an **endocardial cushion defect**, both strongly associated with this condition. *46,XY with deletion of chromosome 22q11.2* - This describes **DiGeorge syndrome**, which typically presents with **conotruncal heart defects** like Tetralogy of Fallot or Truncus Arteriosus rather than isolated VSD findings. - It is characterized by **cleft palate**, **hypocalcemia**, and **thymic aplasia**, lacking the specific facial features and hypotonia seen here. *46,XX with monosomy of the X chromosome* - **Turner syndrome** typically presents in newborns with **lymphedema** of the hands and feet and a **webbed neck (cystic hygroma remnant)**. - Associated cardiac issues are usually **coarctation of the aorta** or a **bicuspid aortic valve**, not holosystolic murmurs from VSDs. *47,XXY karyotype* - **Klinefelter syndrome** generally does not present with specific dysmorphic features or major congenital heart defects at birth. - It is more commonly diagnosed after puberty due to **testicular atrophy**, **gynecomastia**, and **tall stature**. *46,XY with deletion of chromosome 5p* - This refers to **Cri-du-chat syndrome**, which is distinguished by a characteristic **high-pitched, cat-like cry** in the neonatal period. - While it involves **intellectual disability** and **microcephaly**, it does not share the specific palpebral or palmar crease patterns of Down syndrome.

Question 1

A newborn is delivered at 38 weeks gestation to a 28-year-old mother via spontaneous vaginal delivery. On examination in the delivery room, the infant has upslanting palpebral fissures, a flat nasal bridge, a single palmar crease bilaterally, and marked hypotonia. A harsh holosystolic murmur is heard at the left lower sternal border. The pediatric cardiology team is notified. Which of the following chromosomal findings is most consistent with this clinical presentation?

Accepted Answer

47,XY,+21

Answer

46,XY with deletion of chromosome 22q11.2

Answer

46,XX with monosomy of the X chromosome

Answer

47,XXY karyotype

Answer

46,XY with deletion of chromosome 5p

Question 2

A 4-year-old boy with Down syndrome presents with fatigue and recurrent infections. CBC shows WBC 150,000/μL with 90% myeloblasts, hemoglobin 6.5 g/dL, platelets 15,000/μL. Flow cytometry confirms acute myeloid leukemia with megakaryoblastic features (AMKL). The parents are concerned about treatment intensity given their child's baseline developmental delays and increased treatment-related toxicity risk in Down syndrome. Evaluate the treatment approach considering the unique biology and competing risks.

Accepted Answer

Modified chemotherapy protocol with dose reductions of cytarabine but standard anthracyclines, given Down syndrome-associated AML excellent prognosis

Answer

Bone marrow transplantation as first-line therapy

Answer

Palliative care approach given poor baseline function and high treatment toxicity

Answer

Reduced-intensity chemotherapy due to Down syndrome and baseline developmental concerns

Answer

Standard AML chemotherapy protocol without modification

Question 3

A 15-year-old boy presents with right distal femur pain and a palpable mass. X-ray shows a mixed lytic-sclerotic lesion with periosteal elevation creating a Codman triangle and sunburst pattern. Biopsy confirms osteosarcoma. Staging shows pulmonary micrometastases. Alkaline phosphatase is markedly elevated. The family requests consideration of alternative therapies and limb salvage options. Synthesize the treatment plan addressing oncologic outcomes and functional preservation.

Accepted Answer

Neoadjuvant chemotherapy, tumor necrosis assessment, limb salvage with endoprosthesis, and adjuvant chemotherapy with potential pulmonary metastasectomy

Answer

Limb salvage surgery without chemotherapy followed by observation

Answer

Radiation therapy alone as primary treatment

Answer

Palliative care focus given metastatic disease at presentation

Answer

Immediate amputation without chemotherapy due to metastatic disease

Question 4

A 2-year-old girl presents with a large abdominal mass, aniridia, and developmental delay. Family history reveals a sibling who died of Wilms tumor at age 3. Genetic testing shows a germline WT1 mutation. Ultrasound reveals bilateral renal masses. The parents are concerned about treatment options that preserve renal function. Evaluate the optimal management strategy considering long-term outcomes.

Accepted Answer

Bilateral renal biopsy followed by neoadjuvant chemotherapy and bilateral nephron-sparing surgery

Answer

Chemotherapy followed by bilateral nephrectomy and immediate transplantation

Answer

Close surveillance with delayed intervention until symptoms develop

Answer

Immediate bilateral nephrectomy with dialysis and future transplantation

Answer

Unilateral nephrectomy of the larger tumor followed by observation of contralateral kidney

Question 5

A 6-year-old girl presents with acute onset left leg pain and refusal to bear weight. X-ray shows a lytic lesion with periosteal reaction in the femoral diaphysis demonstrating an 'onion-skin' pattern. MRI reveals a large soft tissue mass. Biopsy shows small round blue cells that are CD99 positive. Molecular studies show EWSR1-FLI1 fusion. Staging shows no metastases. Analyze the pathophysiology and treatment rationale.

Accepted Answer

Ewing sarcoma requiring neoadjuvant chemotherapy, local control with surgery or radiation, and adjuvant chemotherapy

Answer

Osteosarcoma requiring neoadjuvant chemotherapy and limb salvage surgery

Answer

Neuroblastoma requiring MIBG therapy and immunotherapy

Answer

Benign reactive process requiring symptomatic treatment only

Answer

Osteomyelitis requiring prolonged antibiotics and possible debridement

Common pediatric cancers — MCQs

Common pediatric cancers — MCQs

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