Galactorrhoea and amenorrhea as first symptoms of acute myeloid leukaemia: a case report and literature review - 26/06/25

Doi : 10.1016/j.arcped.2025.04.003

Kevin Perge ^a,^b,^{^{1
Contributed equally as co-first authors.},}^⁎ , Anne-Laure Peugnet ^c,^{^{1
Contributed equally as co-first authors.}}, Sara Cabet ^b,^d, Sandrine Girard ^e, Carine Villanueva ^a, Cecile Renard ^c, Antony Ceraulo ^c
^a Hôpital Femme Mère Enfant, Service d’Endocrinologie Pédiatrique et Pédiatrie Générale, Hospices Civils de Lyon, Bron, France
^b Université Claude Bernard, Lyon 1, Lyon, France
^c Institut d'Hématologie et d'Oncologie Pédiatrique, Lyon, France
^d Hôpital Femme Mère Enfant, Service d’imagerie pédiatrique, Hospices Civils de Lyon, Bron, France
^e Service d'hématologie biologique, Hospices Civils de Lyon, Bron, France

^⁎Corresponding author. Service d’Endocrinologie Pédiatrique et Pédiatrie Générale, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 59 Boulevard Pinel, 69677, Bron, France.Service d’Endocrinologie Pédiatrique et Pédiatrie GénéraleHôpital Femme Mère EnfantHospices Civils de Lyon59 Boulevard PinelBron69677France

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Abstract

Background

Acute leukaemia is typically identified through clinical signs of cytopenia and/or a tumour syndrome, while paraneoplastic syndromes are rare in this context. We report a unique case of a 10-year-old girl who initially presented with inflammatory joint pain, night sweats, weight loss, amenorrhea, breast swelling, and galactorrhoea.

Observation

At diagnosis, she had an elevated prolactin (PRL) level (260.5 μg/L, reference < 25 μg/L) and biological evidence of hypogonadism. Blood counts revealed anaemia, thrombocytopenia, and 11 % circulating blasts. Bone marrow aspiration confirmed acute leukaemia, classified as FAB M5, with a KAT6A:CREBBP fusion transcript.

Discussion

Cerebrospinal fluid analysis was negative for blasts, and brain magnetic resonance imaging showed no leukemic infiltration of the pituitary gland or a concomitant pituitary tumour. PRL level normalized following chemotherapy.

Conclusion

In the absence of central nervous system involvement, ectopic PRL secretion by leukemic blasts appears to be the most plausible explanation for the elevated PRL levels in this case.

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Keywords : Hyperprolactinemia, Prolactin, Paraneoplastic syndrome, Leukaemia

Abbreviations : Allosct, AML, BM, CNS, MRD, MRI, PRL