我们介绍了一名 40 岁以下男性无家族史的 1 型神经纤维瘤病 (NF-1) 与嗜铬细胞瘤 (PHEO) 相关的临床病例。 NF-1 的诊断是基于该疾病的 4 种体征（多发咖啡斑、脊柱侧弯姿势变化、多发神经纤维瘤、Lisch 结节）。 PHEO 的诊断是通过每日尿液中游离甲肾上腺素/去甲肾上腺素水平显着升高确定的，这是右侧肾上腺肿瘤的恶性 CT 表型，并经病理形态学研究证实。基因检测发现NF1基因的一个等位基因出现了新的突变，删除了566 bp的基因片段，其中外显子19的大小为73 bp。该突变导致外显子 18 和 20 剪接、移码和蛋白质合成终止。对与 PHEO 相关的基因（RET、TMEM127、MAX、FGFR、MET、MERTK、BRAF、NGFR、Pi3、AKT、MTOR、KRAS、MAPK）的转录水平进行了研究，结果显示水平显着下降与对照样品相比，已检测到 KRAS 和 BRAF 基因转录水平的降低以及 TMEM127 基因转录水平的增加。该病例表明需要及时识别 NF-1，以便对患者进行进一步适当的随访，并显示多学科方法诊断和治疗 NF-1 相关儿茶酚胺分泌肿瘤的有效性。

We presented the clinical case of neurofibromatosis type 1 (NF-1) associated with pheochromocytoma (PHEO) in a man under 40 years old without family history. The diagnosis of NF-1 was established based on 4 signs of the disease (multiple café au lait macules, scoliotic changes in posture, the presence of multiple neurofibromas, Lisch nodules). The diagnosis of PHEO was determined by a significant increase of free metanephrin/normethanephrin levels in daily urine, a malignant CT phenotype of the right adrenal tumor, and confirmed by pathomorphological study. Genetic tests revealed a new mutation in one of the alleles of NF1 gene, a deletion of a 566 bp gene fragment, including exon 19 with a size of 73 bp. This mutation leads to splicing of exons 18 and 20, frameshift, and termination of protein synthesis. A study of the level of transcription of the genes associated with PHEO (RET, TMEM127, MAX, FGFR, MET, MERTK, BRAF, NGFR, Pi3, AKT, MTOR, KRAS, MAPK) was conducted, a statistically significant decrease in the level of transcription of the KRAS and BRAF genes and increase in the level of transcription of the TMEM127 gene in comparison with control samples have been detected. This case demonstrates the need for timely recognition of NF-1 for further appropriate patient's follow up and show the effectiveness of a multidisciplinary approach to the diagnosis and treatment of NF-1-associated catecholamine-secreting tumors.