Abstract：
Langerhans cell histiocytosis (LCH) is a heterogeneous neoplastic disorder that is rarely seen in patients aged 60 years and older. It is reported that elderly patients with LCH have a higher chance of having malignancies. In the oral cavity, patients with LCH can present with mucosal ulcers and extensive osteolysis, making it difficult for clinicians to make a proper diagnosis.
We reported an 82-year-old Chinese woman with oral symptoms as the first presentation of LCH, and eventually developed acute myeloid leukemia (AML). She suffered diffuse ulcers involving the entire gingival mucosa and the left half hard palate, and had lost several teeth. Genomic DNA sequencing of the cells from LCH revealed multiple mutations in TET2, BRAF, SRSF2, NRAS, MAP2K4 and so on. The patient declined the BRAFV600E inhibitor (Vemurafenib). Although a dramatic improvement of the oral ulcers was achieved after symptomatic treatment, the patient developed acute myeloid leukemia (AML) and died.
This report presented the diagnostic difficulties of LCH with oral manifestations and highlighted the importance of radiological assessments and laboratory tests. Moreover, many of the mutations detected in our LCH patient are frequently seen in AML, suggesting that AML and LCH cells in this patient share the same origin.
We reported an 82-year-old Chinese woman with oral symptoms as the first presentation of LCH, and eventually developed acute myeloid leukemia (AML). She suffered diffuse ulcers involving the entire gingival mucosa and the left half hard palate, and had lost several teeth. Genomic DNA sequencing of the cells from LCH revealed multiple mutations in TET2, BRAF, SRSF2, NRAS, MAP2K4 and so on. The patient declined the BRAFV600E inhibitor (Vemurafenib). Although a dramatic improvement of the oral ulcers was achieved after symptomatic treatment, the patient developed acute myeloid leukemia (AML) and died.
This report presented the diagnostic difficulties of LCH with oral manifestations and highlighted the importance of radiological assessments and laboratory tests. Moreover, many of the mutations detected in our LCH patient are frequently seen in AML, suggesting that AML and LCH cells in this patient share the same origin.
摘要：
朗格汉斯细胞组织细胞增生症（LCH）是一种异质性肿瘤疾病，在60岁及以上的患者中很少见。据报道，患有LCH的老年患者患恶性肿瘤的几率更高。在口腔中，LCH患者可表现为粘膜溃疡和广泛的骨溶解，这使得临床医生很难做出正确的诊断。
我们报道了一位82岁的中国女性，她的口腔症状是LCH的首次表现，并最终发展为急性髓细胞性白血病（AML）。她患有弥漫性溃疡，累及整个牙龈粘膜和左半硬腭，掉了几颗牙。来自LCH的细胞的基因组DNA测序揭示了TET2，BRAF，SRSF2,NRAS,MAP2K4等。患者拒绝使用BRAFV600E抑制剂（Vemurafenib）。尽管经过对症治疗，口腔溃疡得到了显着改善，患者发展为急性髓细胞性白血病(AML)并死亡.
本报告介绍了LCH口腔表现的诊断困难，并强调了放射学评估和实验室测试的重要性。此外，在我们的LCH患者中检测到的许多突变常见于AML，表明该患者的AML和LCH细胞具有相同的起源。
我们报道了一位82岁的中国女性，她的口腔症状是LCH的首次表现，并最终发展为急性髓细胞性白血病（AML）。她患有弥漫性溃疡，累及整个牙龈粘膜和左半硬腭，掉了几颗牙。来自LCH的细胞的基因组DNA测序揭示了TET2，BRAF，SRSF2,NRAS,MAP2K4等。患者拒绝使用BRAFV600E抑制剂（Vemurafenib）。尽管经过对症治疗，口腔溃疡得到了显着改善，患者发展为急性髓细胞性白血病(AML)并死亡.
本报告介绍了LCH口腔表现的诊断困难，并强调了放射学评估和实验室测试的重要性。此外，在我们的LCH患者中检测到的许多突变常见于AML，表明该患者的AML和LCH细胞具有相同的起源。
