Ducassou Stéphane, Abou Chahla Wadih, Duployez Nicolas, Halfon-Domenech Carine, Brethon Benoît, Poirée Marilyne, Adam de Beaumais Tiphaine, Lemaître Laurent, Sirvent Nicolas, Petit Arnaud
Service d'hématologie et d'oncologie pédiatrique, CHU de Bordeaux, Bordeaux, France.
Service d'hématologie pédiatrique, CHU de Lille, Lille, France.
Bull Cancer. 2024 May;111(5):513-524. doi: 10.1016/j.bulcan.2023.12.010. Epub 2024 Mar 19.
Neonatal acute myeloid leukemias (AML) occurred within the first 28 days of life and constitute only a small proportion of all AL. They are distinguished from leukemias of older children by their clinical presentation, which frequently includes cutaneous localizations ("blueberry muffin rash syndrome") and a leukocytosis above 50 ×10/L. This proliferation may be transient, causing a transient leukemoid reaction in a background of constitutional trisomy 21 ("Transient Abnormal Myelopoieseis" or TAM) or Infantile Myeloproliferative Disease in the absence of constitutional trisomy 21 ("Infantile Myeloproliferative Disease" or IMD). In cases of true neonatal AML, the prognosis of patients is poor. Overall survival is around 35 % in the largest historical series. This poor prognosis is mainly due to the period of onset of this pathology making the use of chemotherapy more limited and involving many considerations, both ethical and therapeutic. The objective of this work is to review this rare pathology by addressing the clinical, biological, therapeutic and ethical particularities of patients with true neonatal AML or transient leukemoid reactions occurring in a constitutional trisomy 21 (true TAM) or somatic background (IMD).
新生儿急性髓系白血病（AML）发生在出生后的头28天内，仅占所有急性白血病的一小部分。它们与大龄儿童白血病的区别在于临床表现，通常包括皮肤病变（“蓝莓松饼皮疹综合征”）和白细胞计数高于50×10⁹/L。这种增殖可能是短暂的，在21号染色体三体综合征的背景下引起短暂的类白血病反应（“短暂异常髓系造血”或TAM），或在无21号染色体三体综合征的情况下发生婴儿型骨髓增殖性疾病（“婴儿型骨髓增殖性疾病”或IMD）。在真正的新生儿AML病例中，患者的预后很差。在最大的历史系列研究中，总生存率约为35%。这种不良预后主要是由于该疾病的发病时期使得化疗的应用受到更多限制，并且涉及许多伦理和治疗方面的考虑。这项工作的目的是通过阐述真正的新生儿AML或在21号染色体三体综合征（真正的TAM）或体细胞背景（IMD）中发生的短暂类白血病反应患者的临床、生物学、治疗和伦理特点，来回顾这种罕见疾病。
