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Noonan – JMML-like MPD — RACP Paediatrics MCQ

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HardGeneticsNoonan – JMML-like MPDRACP Paediatrics

A child with a RASopathy (Noonan spectrum) develops hepatosplenomegaly and a blood film showing features resembling juvenile myelomonocytic leukaemia (JMML). What is the significance?

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Correct answer: E — Noonan syndrome

Children with Noonan syndrome (and other RASopathies) have an increased risk of JMML-like myeloproliferative disorders. Noonan-associated myeloproliferative disease can be self-resolving (unlike true JMML which requires HSCT). Distinguishing Noonan-associated MPD from true JMML is important as management differs significantly. Careful haematological monitoring is required.

Reference: RACP Paediatric Curriculum – Genetics/Haematology; RCH Melbourne – 2023