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This research highlights a rare case where Cushing's syndrome is the first sign of CNS relapse in pediatric acute lymphoblastic leukemia patients.

April 18, 2026Open Access

Cushing's Warning: Cushing’s Syndrome as first sign of CNS relapse in pediatric acute lymphoblastic leukemia.

Key Points

This research highlights a rare case where Cushing's syndrome is the first sign of CNS relapse in pediatric acute lymphoblastic leukemia patients.
Case report detailing clinical presentation of a 4-year-old girl with BCP-ALL.
Analysis of genetic mutations including P2RY8::CRLF2 fusion and JAK2/NRAS mutations.
Review of existing literature on Cushing's syndrome in pediatric ALL relapse.
Cushing's syndrome was observed as an early symptom of CNS relapse in one pediatric patient.
14 historical cases of Cushing's syndrome as the first sign of ALL relapse were identified, all associated with adverse prognosis.
Genetic analysis revealed new mutations at the time of relapse, indicating disease progression.

Abstract

Central nervous system (CNS) relapse occurs in 5% of pediatric acute lymphoblastic leukemia (ALL) patients.Cushing syndrome (CS) as its presenting symptom is exceedingly rare.We describe a 4-year-old girl with precursor B-cell ALL (BCP-ALL) who developed CNS relapse, presenting with rapid weight gain and biochemical CS.At relapse she harbored a P2RY8::CRLF2 fusion and JAK2/NRAS mutations absent at diagnosis.Only 14 pediatric patients have presented with CS as the first sign of ALL relapse; all were (very) early BCP-ALL and prognosis was poor.We hypothesize an interplay among CRLF2-rearrangements, adipogenesis and inflammatory cytokines.Vigilance for CNS relapse is advised in overweight or CRLF2-rearranged patients.

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Cloedt et al. (Wed,) studied this question.

synapsesocial.com/papers/69e31f7340886becb653eba7 https://doi.org/https://doi.org/10.1016/j.ejcped.2026.100511

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