Donadieu Jean, Bou Mitri Fares, Beaupain Blandine, Alajidi Nathalie, Viallard Jean Francois, Paih Jean-Philippe Le, Yacoub Mokrane, Leblanc Thierry, Quero Laurent, Rouland Alexia, Labbe Louis, Deback Claire, Bellanne-Chantelot Christine, Emile Jean-François
French Registry for Severe Chronic Neutropenia, Armand-Trousseau Hospital, APHP, Paris, France.
Onco-hematology Unit, Pediatic Department, Children Hospital, Groupe Hospitalier Pellegrin, Bordeaux, France.
Pediatr Blood Cancer. 2022 Nov;69(11):e29923. doi: 10.1002/pbc.29923. Epub 2022 Aug 15.
Neutropenia related to ELANE gene mutations predisposes patients to infection and leukemia/myelodysplasia, but little is known about the predisposition to cancer. Among a cohort of 147 patients, we identified four with malignant solid tumors (papillary thyroid cancer, anal squamous cell cancer, papillary renal cell carcinoma, and adrenocortical carcinoma), all aged 25-50 years. Three occurred with cyclic neutropenia, and one occurred with severe chronic neutropenia. Previous radiotherapy was identified as a risk factor in one patient. No genetic predisposition was identified in the three other patients.
与ELANE基因突变相关的中性粒细胞减少症使患者易患感染和白血病/骨髓增生异常，但对癌症易感性了解甚少。在147名患者队列中，我们发现4例患有恶性实体肿瘤（乳头状甲状腺癌、肛门鳞状细胞癌、乳头状肾细胞癌和肾上腺皮质癌），所有患者年龄在25至50岁之间。3例发生在周期性中性粒细胞减少症患者中，1例发生在严重慢性中性粒细胞减少症患者中。1例患者中发现既往放疗是一个危险因素。其他3例患者未发现遗传易感性。
