Gul Ozen Oz, Sisman Pinar, Cander Soner, Gozden Erdem, Kurt Meral, Saraydaroglu Ozlem, Kirdak Turkay, Ersoy Canan, Erturk Erdinc
Department of Endocrinology and Metabolism.
Department of Hematalogy.
Endocrinol Diabetes Metab Case Rep. 2017 Feb 2;2017. doi: 10.1530/EDM-16-0087. eCollection 2017.
Langerhans cell histiocytosis (LCH) is a rare sporadic disease characterized by histiocytic neoplastic infiltration of various organ systems and a wide spectrum of clinical manifestations, ranging from benign and self-limiting to lethal. Herein, we report a rare case of adult-onset multi-systemic LCH in a 36-year-old male patient with an initial perianal presentation and incidental finding of subsequent thyroid gland involvement in the follow-up period. The patient with a history of perianal LCH treated with surgical excision and local radiotherapy was referred to our Endocrinology Department upon detection of hypermetabolic nodular lesions in the left lateral lobe of thyroid gland on positron emission tomography-computed tomography (PET/CT) scan in the nineth month of follow-up. Current evaluation revealed euthyroid status, a hypoechoic solid lesion of 13 × 9 mm in size with irregular borders in the left thyroid lobe on thyroid USG and cytologic assessment of thyroid nodule. The patient was diagnosed with suspected, oncocytic lesion, Hashimoto thyroiditis or LCH. The patient underwent total thyroidectomy and pathological assessment confirmed the diagnosis of Langerhans cell histiocytosis. Assessments in the sixth month of postoperative follow-up revealed euthyroid status with no thyroid tissue remnants or pathological lymph node on thyroid USG. In view of the multifocal lesions indicating multi-system disease, a systemic chemotherapy protocol with combination of prednisone (PRED) and vinblastine (VBL) has been planned by the hematology department.
Langerhans cell histiocytosis (LCH) shows a wide clinical spectrum and prognosis that ranges from benign and self-limiting single-system disease (with single or multifocal lesions) to a potentially lethal multi-system disease with severe organ dysfunction and death in some cases.It has been stated that the diagnosis is often delayed in perianal LCH unless LCH is specifically considered in the etiology, despite the fact that mucosal involvement may precede systemic involvement.Our findings support the statement that most of patients with LCH were PET positive at the time of initial diagnosis, while also emphasize the inclusion of this imaging modality as a part of the diagnostic workflow as well as in the setting of treatment response evaluation among adult LCH patients.
朗格汉斯细胞组织细胞增多症（LCH）是一种罕见的散发性疾病，其特征是组织细胞肿瘤浸润各种器官系统，临床表现范围广泛，从良性自限性到致命性。在此，我们报告一例罕见的成年起病的多系统LCH病例，患者为36岁男性，最初表现为肛周病变，随访期间偶然发现甲状腺受累。该患者有肛周LCH病史，接受了手术切除和局部放疗，在随访的第九个月，正电子发射断层扫描-计算机断层扫描（PET/CT）显示甲状腺左叶有高代谢结节性病变，遂转诊至我们的内分泌科。目前的评估显示甲状腺功能正常，甲状腺超声检查发现甲状腺左叶有一个大小为13×9mm、边界不规则的低回声实性病变，并对甲状腺结节进行了细胞学评估。该患者被诊断为疑似嗜酸性细胞瘤、桥本甲状腺炎或LCH。患者接受了甲状腺全切除术，病理评估证实为朗格汉斯细胞组织细胞增多症。术后六个月的随访评估显示甲状腺功能正常，甲状腺超声检查未发现甲状腺组织残留或病理性淋巴结。鉴于多灶性病变提示多系统疾病，血液科已制定了泼尼松（PRED）和长春花碱（VBL）联合的全身化疗方案。
朗格汉斯细胞组织细胞增多症（LCH）临床表现广泛，预后差异大，从良性自限性单系统疾病（单发或多发灶性病变）到潜在致命性多系统疾病，某些情况下可导致严重器官功能障碍甚至死亡。尽管黏膜受累可能先于全身受累，但有人指出，肛周LCH的诊断往往延迟，除非在病因学上特别考虑LCH。我们的研究结果支持大多数LCH患者初诊时PET呈阳性这一说法，同时也强调将这种影像学检查作为诊断流程的一部分，以及在成年LCH患者治疗反应评估中的应用。
