Paediatric haematology, oncology and endocrinology

27 NEET-PG practice questions on Paediatric haematology, oncology and endocrinology, part of Paediatrics. The first 25 are below; the first 5 with answers and explanations (tap Show answer after you have chosen), the rest in Learn with a free account.

1. Question 1 · Medium

   Rapid, chaotic, multidirectional eye movements with jerking of the limbs and an unsteady gait have developed over 3 weeks in a toddler who was previously well. MRI brain is normal, and CSF shows no infection. The paediatric neurologist orders a CT of the chest and abdomen. Which tumour is this scan looking for?

   1. AWilms tumour
   2. BNeuroblastoma
   3. CHepatoblastoma
   4. DMedulloblastoma

   Show answerHide answer

   Answer: B · Neuroblastoma

   Opsoclonus-myoclonus-ataxia is a paraneoplastic syndrome caused by antibodies that cross-react with neural tissue, and about half of affected children have a neuroblastoma, often small and of good prognosis. The tumour can be anywhere along the sympathetic chain, so chest and abdomen are imaged. Neurological problems may persist even after the tumour is removed.

   • A: Wilms tumour is not linked to opsoclonus-myoclonus.
   • C: Hepatoblastoma does not cause this paraneoplastic picture.
   • D: Medulloblastoma would show on the brain MRI and causes ataxia, not opsoclonus.

   Remember this

   Opsoclonus-myoclonus in a toddler: look for neuroblastoma.

2. Question 2 · Hard

   Bluish, firm skin nodules ('blueberry muffin' lesions) and massive hepatomegaly are found in an infant of 4 months. A skin nodule biopsy shows small round blue cells with rosettes; ultrasound shows a small left adrenal primary; bone marrow has 5% tumour cells, and there are no bone or lung deposits. MYCN is not amplified. The infant feeds well, is gaining weight, has no breathing difficulty and passes urine normally; the liver edge is 6 cm below the costal margin. The parents want to know whether intensive chemotherapy is needed. What is the most appropriate management?

   1. ARadiotherapy to the liver at once
   2. BHigh-dose chemotherapy with stem-cell rescue
   3. CUrgent adrenalectomy with liver resection
   4. DObservation; chemotherapy only if organs are threatened

   Show answerHide answer

   Answer: D · Observation; chemotherapy only if organs are threatened

   An infant under 18 months with a small primary and spread limited to skin, liver and marrow (under 10%) has stage MS (formerly 4S) neuroblastoma. Without MYCN amplification, most regress on their own, so the infant is observed closely. Low-dose chemotherapy is given only if the liver causes breathing, renal or feeding problems.

   • A: Liver radiotherapy is reserved for severe compromise not relieved by chemotherapy.
   • B: High-dose therapy is for high-risk disease, not favourable MS disease.
   • C: Surgery of the liver and primary is not needed and is risky.

   Remember this

   Stage MS neuroblastoma without MYCN amplification often regresses; observe.

3. Question 3 · Medium

   Breast development at 6 years 9 months, with pubic hair and a height spurt, is noticed in a girl from Kozhikode; bone age is 9 years. A GnRH stimulation test gives a pubertal LH peak, and MRI of the brain is normal. What is the treatment of choice?

   1. AObservation until 8 years
   2. BOral letrozole
   3. CCyproterone acetate
   4. DDepot GnRH agonist such as leuprolide

   Show answerHide answer

   Answer: D · Depot GnRH agonist such as leuprolide

   Puberty before 8 years in a girl is precocious, and a pubertal LH response shows it is central (gonadotropin-dependent); most girls have no brain lesion. Continuous GnRH agonist down-regulates pituitary GnRH receptors, halting puberty and preserving adult height. It is stopped near the normal age of puberty.

   • A: Waiting allows bone age to advance and adult height to be lost.
   • B: Letrozole is for peripheral causes such as McCune-Albright syndrome.
   • C: Cyproterone does not stop the central drive and is not first-line.

   Remember this

   Central precocious puberty: depot GnRH agonist.

4. Question 4 · Medium

   Results 36 hours after starting induction for T-cell ALL with a large mediastinal mass and WBC 1,80,000/µL: potassium 6.8 mmol/L (3.5-5.0), phosphate 9.2 mg/dL (4.0-6.5), calcium 6.4 mg/dL (8.8-10.8), uric acid 13 mg/dL and creatinine 1.6 mg/dL and rising. Urine output has fallen. Which complication explains this picture?

   1. AHypercalcaemia of malignancy
   2. BMethotrexate nephrotoxicity
   3. CSIADH from vincristine
   4. DTumour lysis syndrome

   Show answerHide answer

   Answer: D · Tumour lysis syndrome

   Rapid killing of a large, fast-growing tumour releases potassium, phosphate and nucleic acids (to uric acid); phosphate binds calcium, causing hypocalcaemia, and urate and calcium phosphate crystals cause acute kidney injury. High WBC and bulky T-cell disease are the main risks. Prevention is hyperhydration with allopurinol or rasburicase.

   • A: Calcium is low here, not high.
   • B: Methotrexate toxicity would not explain high potassium, phosphate and urate.
   • C: SIADH causes hyponatraemia, not this pattern.

   Remember this

   Tumour lysis: high K, phosphate and urate with low calcium and AKI after starting chemotherapy.

5. Question 5 · Medium

   Absolute neutrophil count 400/µL on a routine weekly blood count is found in a girl with thalassaemia major who began a new oral iron chelator 6 weeks ago. She also has a sore throat and fever of 38.6 °C. Which chelator is she most likely taking, and what is needed?

   1. ADeferiprone; stop it and treat febrile neutropenia
   2. BDeferasirox; continue it and give paracetamol
   3. CDeferiprone; continue at half the dose
   4. DDesferrioxamine; switch to the oral form

   Show answerHide answer

   Answer: A · Deferiprone; stop it and treat febrile neutropenia

   Deferiprone causes agranulocytosis in about 1% and neutropenia in more, which is why a weekly neutrophil count is required. With fever and neutropenia it must be stopped and the child treated as febrile neutropenia with broad-spectrum antibiotics. It is not restarted after agranulocytosis.

   • B: Deferasirox mainly affects the kidney and liver, not neutrophils.
   • C: Continuing deferiprone after agranulocytosis risks fatal sepsis.
   • D: Desferrioxamine is a parenteral drug, not the oral chelator here.

   Remember this

   Deferiprone: agranulocytosis risk, weekly ANC; stop it at once with fever and neutropenia.

6. Question 6 · Easy

   Which cancer is the commonest in Indian children under 15 years of age?

   1. ANon-Hodgkin lymphoma
   2. BAcute myeloid leukaemia
   3. CBrain tumours as a group
   4. DAcute lymphoblastic leukaemia

   Answer and explanation in LearnFree account

7. Question 7 · Medium

   Serum ferritin 1,340 ng/mL is reported for a boy with beta-thalassaemia major, aged 3, who has had 18 transfusions. He is transfused every 3 weeks, keeps a pre-transfusion haemoglobin of about 10 g/dL and is growing well. Liver and kidney function and hearing are normal. What is the next step in his care?

   1. ARepeat ferritin after 1 year
   2. BStart regular phlebotomy
   3. CReduce the transfusion frequency
   4. DStart oral deferasirox

   Answer and explanation in LearnFree account

8. Question 8 · Easy

   While bathing her son, a mother in Kollam feels a smooth, firm lump on the left side of his abdomen. The boy, aged 3, is otherwise well; BP is 118/78 mmHg (above the 95th centile for age) and urine shows microscopic haematuria. The mass does not cross the midline. What is the most likely diagnosis?

   1. ANeuroblastoma
   2. BHydronephrosis
   3. CMulticystic dysplastic kidney
   4. DWilms tumour

   Answer and explanation in LearnFree account

9. Question 9 · Hard

   Primary amenorrhoea and absent breast development at 16 years bring a teenager to the adolescent clinic. BP is 150/96 mmHg and potassium 2.9 mmol/L (3.5-5.0). She has female external genitalia with a blind vaginal pouch, no uterus on ultrasound, and a karyotype of 46,XY; small gonads lie in the inguinal canals. Plasma renin is suppressed, and testosterone, oestradiol and cortisol are all low, while ACTH is high. She has never had an adrenal crisis, and her younger sibling is well. Her parents are first cousins. Which enzyme defect explains every finding?

   1. A11-beta-hydroxylase deficiency
   2. BComplete androgen insensitivity
   3. C5-alpha-reductase deficiency
   4. D17-alpha-hydroxylase deficiency

   Answer and explanation in LearnFree account

10. Question 10 · Easy

    Growth chart review in the adolescent clinic: a boy of 14 is at the 3rd centile for height with a normal height velocity of 5 cm/year since age 3. He is Tanner stage 1 with a bone age of 11.5 years, and his father was a 'late bloomer'. Both parents are of average height. What is the most likely diagnosis?

    1. AConstitutional growth delay
    2. BGrowth hormone deficiency
    3. CFamilial short stature
    4. DPrimary hypothyroidism

    Answer and explanation in LearnFree account

11. Question 11 · Medium

    In the casualty, a child of 2 has bilateral periorbital bruising with proptosis. The child protection team is called, but there is no history of trauma; he also has fever, a limp and an abdominal mass crossing the midline with stippled calcification on X-ray. Which tumour feature most strongly predicts a poor outcome?

    1. AMYCN amplification
    2. BAge below 18 months
    3. CHyperdiploid DNA content
    4. DCalcification on imaging

    Answer and explanation in LearnFree account

12. Question 12 · Medium

    The thalassaemia day-care unit of a medical college audits the transfusions of its children with beta-thalassaemia major. Several children show frontal bossing and growth failure, and their pre-transfusion haemoglobin has been allowed to drift down to about 7 g/dL. Under current TIF guidance, at what pre-transfusion haemoglobin should each child be kept?

    1. A7.0-8.0 g/dL
    2. B9.5-10.5 g/dL
    3. C8.0-9.0 g/dL
    4. D12.0-13.0 g/dL

    Answer and explanation in LearnFree account

13. Question 13 · Medium

    Father's height 170 cm and mother's 155 cm: their daughter attends the endocrine clinic for short stature, and they ask how tall she is expected to be. She is healthy, with normal thyroid function and bone age. What is her mid-parental (target) height?

    1. A149.5 cm
    2. B169 cm
    3. C156 cm
    4. D162.5 cm

    Answer and explanation in LearnFree account

14. Question 14 · Medium

    Aniridia was noted at birth in a boy who now, at 2 years, has hypospadias, undescended testes and developmental delay. His eyes have been followed by the ophthalmologist since infancy, and his parents are not related. The paediatric oncologist plans renal ultrasound every 3 months. Which gene deletion explains his tumour risk?

    1. APAX6 alone on 11p13
    2. BWT1 on chromosome 11p13
    3. CWT2 locus on 11p15
    4. DRB1 on 13q14

    Answer and explanation in LearnFree account

15. Question 15 · Medium

    Testes of 8 mL each, pubic hair, acne and a growth spurt are found in a boy of 6. His LH response to GnRH is pubertal and his bone age is 9.5 years; he has no headache and the fundi are normal. Which investigation is most important next?

    1. AUltrasound of the testes
    2. BMRI of the brain
    3. CCT of the adrenal glands
    4. DSerum beta-hCG and AFP

    Answer and explanation in LearnFree account

16. Question 16 · Hard

    Vaginal bleeding at 3 years brings a girl to the endocrine clinic. She has breast development, a large café-au-lait patch with a jagged edge over the right buttock that stops at the midline, and a limp from a deformed femur showing ground-glass lesions on X-ray. LH and FSH stay suppressed after GnRH, oestradiol is high and ultrasound shows a 3 cm ovarian cyst. Bone age is 5 years, and thyroid function is normal. Her mother asks whether monthly injections used for other girls with early puberty will help. What is the underlying defect, and which drug is used?

    1. AInactivating GNAS mutation; growth hormone
    2. BMosaic activating GNAS mutation; letrozole
    3. CGermline NF1 mutation; leuprolide
    4. DHypothalamic hamartoma; leuprolide

    Answer and explanation in LearnFree account

17. Question 17 · Hard

    Transfusion records of a boy with beta-thalassaemia major, now 9 years old, show his packed-cell requirement has risen from 160 to 240 mL/kg/year over two years despite good adherence, with pre-transfusion Hb kept at 9.5-10 g/dL. The spleen is 9 cm below the costal margin, platelets are 98,000/µL and the antibody screen shows no new alloantibody. Ferritin is 1,600 ng/mL on deferasirox, and ultrasound shows no gallstones. The parents travel 80 km for each transfusion and ask what can be done to cut the number of transfusions. What is the most appropriate plan?

    1. ARaise the deferasirox dose and continue as before
    2. BSplenectomy after pneumococcal, Hib and meningococcal vaccines
    3. CRaise the target pre-transfusion Hb to 12 g/dL
    4. DStart hydroxyurea and stop the transfusions

    Answer and explanation in LearnFree account

18. Question 18 · Hard

    Before induction chemotherapy for B-cell ALL with WBC 1,10,000/µL and uric acid 9.8 mg/dL, a boy from a tribal community in Gujarat is started on hyperhydration at 3 L/m²/day. His potassium, phosphate and creatinine are normal, and urine output is good. His G6PD screening test shows deficiency, and his elder brother once had haemolysis after primaquine. Which urate-lowering drug should be used?

    1. AAllopurinol
    2. BSodium bicarbonate alone
    3. CRasburicase at half the dose
    4. DRasburicase

    Answer and explanation in LearnFree account

19. Question 19 · Hard

    On subcutaneous desferrioxamine 5 nights a week, a girl with thalassaemia major develops fever of 39 °C, right lower quadrant pain and diarrhoea for 2 days. Ultrasound shows enlarged mesenteric lymph nodes and a normal appendix. Apart from sending stool and blood cultures, what is the most important immediate step?

    1. AIncrease desferrioxamine, as fever raises ferritin
    2. BEmergency appendicectomy
    3. CStop desferrioxamine and treat for Yersinia
    4. DContinue desferrioxamine; add oral metronidazole

    Answer and explanation in LearnFree account

20. Question 20 · Easy

    Ambiguous genitalia, with clitoromegaly and fused labioscrotal folds, are noted at birth in a baby whose karyotype is 46,XX; no gonads are palpable and ultrasound shows a uterus and ovaries. The baby is feeding well and vital signs are stable on day 1. Which hormone measurement best confirms the commonest cause?

    1. ASerum 17-hydroxyprogesterone
    2. BSerum 11-deoxycortisol
    3. CTestosterone to DHT ratio
    4. DPlasma renin activity

    Answer and explanation in LearnFree account

21. Question 21 · Medium

    Growth velocity of 3 cm/year (below the 3rd centile) over 18 months is noted in a chubby boy of 6 whose height has fallen from the 25th to below the 3rd centile. Bone age is 4 years, and thyroid function and coeliac serology are normal. He had neonatal hypoglycaemia and has a micropenis. Which test confirms the likely diagnosis?

    1. ASerum IGF-1 alone
    2. BA random serum growth hormone
    3. CGH suppression by oral glucose
    4. DTwo growth hormone stimulation tests

    Answer and explanation in LearnFree account

22. Question 22 · Easy

    Which urine test supports a diagnosis of neuroblastoma?

    1. ARaised VMA and HVA
    2. BBence Jones protein
    3. CRaised 5-HIAA
    4. DPorphobilinogen

    Answer and explanation in LearnFree account

23. Question 23 · Medium

    Day 15 of life: a baby boy is brought to casualty with vomiting, poor feeding and lethargy. Na 121 mmol/L (135-145), K 7.4 mmol/L (3.5-5.5), glucose 42 mg/dL and capillary refill 4 seconds; the ECG shows no arrhythmia. The genitalia look normal with a darkly pigmented scrotum. After a saline bolus and IV dextrose, which drug should be given next?

    1. AIV calcium gluconate
    2. BIV hydrocortisone
    3. COral fludrocortisone alone
    4. DIV insulin with dextrose

    Answer and explanation in LearnFree account

24. Question 24 · Medium

    Bone-marrow results of a newly diagnosed B-cell ALL are reviewed at the tumour board of a regional cancer centre; the parents want to know how likely a cure is. Consider: 1. Age between 1 and 10 years 2. ETV6-RUNX1 fusion from t(12;21) 3. Hyperdiploidy above 50 chromosomes 4. KMT2A (MLL) rearrangement. Which are favourable prognostic features?

    1. A1, 2, 3 and 4
    2. B1 and 4 only
    3. C1, 2 and 3 only
    4. D2, 3 and 4 only

    Answer and explanation in LearnFree account

25. Question 25 · Medium

    Hypertension (BP 130/88 mmHg, above the 99th centile) and hypokalaemia are found in a girl of 4 with pubic hair, clitoromegaly and an advanced bone age. Her height is on the 97th centile though both parents are of average height. 17-hydroxyprogesterone is mildly raised, and 11-deoxycortisol is markedly raised. Which enzyme is deficient?

    1. A3-beta-hydroxysteroid dehydrogenase
    2. B17-alpha-hydroxylase
    3. C11-beta-hydroxylase
    4. D21-hydroxylase

    Answer and explanation in LearnFree account