乳溢和闭经是急性髓性白血病的首发症状：1例报告并文献复习。

IF 1.3 4区医学 Q3 PEDIATRICS

Archives De Pediatrie Pub Date : 2025-07-01 DOI:10.1016/j.arcped.2025.04.003

Kevin Perge , Anne-Laure Peugnet , Sara Cabet , Sandrine Girard , Carine Villanueva , Cecile Renard , Antony Ceraulo

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引用次数: 0

摘要

背景：急性白血病通常通过细胞减少和/或肿瘤综合征的临床症状来识别，而副肿瘤综合征在这种情况下很少见。我们报告一个独特的情况下，一个10岁的女孩谁最初提出炎性关节痛，盗汗，体重减轻，闭经，乳房肿胀和乳漏。观察：诊断时，患者泌乳素（PRL）水平升高（260.5 μg/L，参考值< 25 μg/L），生物学证据显示性腺功能减退。血球计数显示贫血、血小板减少症和11%的循环原细胞。骨髓穿刺证实急性白血病，分类为FAB M5，具有KAT6A:CREBBP融合转录物。讨论：脑脊液分析为阴性，脑磁共振成像显示脑垂体无白血病浸润或伴发垂体瘤。化疗后PRL水平恢复正常。结论：在没有中枢神经系统受累的情况下，白血病母细胞分泌异位PRL似乎是本病例中PRL水平升高的最合理解释。

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Galactorrhoea and amenorrhea as first symptoms of acute myeloid leukaemia: a case report and literature review

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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来源期刊

Archives De Pediatrie 医学-小儿科

CiteScore

2.80

自引率

5.60%

发文量

106

审稿时长

24.1 weeks

期刊介绍： Archives de Pédiatrie publishes in English original Research papers, Review articles, Short communications, Practice guidelines, Editorials and Letters in all fields relevant to pediatrics. Eight issues of Archives de Pédiatrie are released annually, as well as supplementary and special editions to complete these regular issues. All manuscripts submitted to the journal are subjected to peer review by international experts, and must: Be written in excellent English, clear and easy to understand, precise and concise; Bring new, interesting, valid information - and improve clinical care or guide future research; Be solely the work of the author(s) stated; Not have been previously published elsewhere and not be under consideration by another journal; Be in accordance with the journal''s Guide for Authors'' instructions: manuscripts that fail to comply with these rules may be returned to the authors without being reviewed. Under no circumstances does the journal guarantee publication before the editorial board makes its final decision. Archives de Pédiatrie is the official publication of the French Society of Pediatrics.