合并尿崩症的成人甲状腺朗格汉斯细胞组织细胞增生症临床特点和诊断经验

王倩; 孙全娅; 何敏; 张烁; 向博妮; 李秋璠; 王涌; 张夏玲; 丁天凌; 叶红英

doi:10.12376/j.issn.2097-0501.2023.03.005

合并尿崩症的成人甲状腺朗格汉斯细胞组织细胞增生症临床特点和诊断经验

doi: 10.12376/j.issn.2097-0501.2023.03.005

1.
复旦大学附属华山医院内分泌科，上海 200040
2.
复旦大学附属华山医院超声科，上海 200040
3.
复旦大学附属华山医院病理科，上海 200040
4.
复旦大学附属华山医院血液科，上海 200040

基金项目:

国家重大疾病多学科合作诊疗能力建设项目“垂体瘤多学科联合诊疗团队建设项目”

详细信息

通信作者:
叶红英，E-mail：yehongying@huashan.org.cn

中图分类号: R581;R733
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出版历程
- 收稿日期: 2023-05-08
- 录用日期: 2023-06-02

Clinical Characteristics and Diagnostic Experience of Adult Thyroid Langerhans Cell Histiocytosis with Diabetes Insipidus

1.
Department of Endocrinology, Huashan Hospital Affiliated to Fudan University, Shanghai 200040, China
2.
Department of Ultrasound, Huashan Hospital Affiliated to Fudan University, Shanghai 200040, China
3.
Department of Pathology, Huashan Hospital Affiliated to Fudan University, Shanghai 200040, China
4.
Department of Hematology, Huashan Hospital Affiliated to Fudan University, Shanghai 200040, China

Funding:

National Project in Promoting the Diagnosis and Treatment of Major Diseases by MDT

More Information

Corresponding author: YE Hongying, E-mail: yehongying@huashan.org.cn

摘要

摘要: 目的分析归纳甲状腺朗格汉斯细胞组织细胞增生症(LCH)的临床特点, 分享诊断经验。方法回顾性分析2015年1月至2022年1月复旦大学附属华山医院内分泌科收治的6例病理确诊甲状腺LCH患者的临床资料, 分析甲状腺超声和¹⁸F FDG-PET/CT影像学特点。结果 6例(2男4女)确诊年龄18~58岁, 均因尿崩症就诊于内分泌科, MRI显示垂体柄增粗。中枢性甲减2例, 甲功正常4例; 甲状腺抗体阳性3例。甲状腺超声提示3类结节3例, 4类结节2例, 结节性甲状腺肿1例。结节超声特点: 均为低回声; 5例边界清晰; 4例回声分布不均匀; 5例形态欠规则; 均未见钙化。¹⁸F FDG-PET/CT显示为高摄取结节(SUVmax值>10);手术切除病例确诊4例, 粗针穿刺活检病理确诊2例。6例患者确诊时除垂体外, 累及肝脏和胸腺各2例, 累及肺和骨各1例。系统治疗后4例甲状腺结节缩小, 2例伴肝脏累及者病情进展快速未行评估。结论甲状腺LCH超声特点为分布欠均匀的低回声结节, 边界清但形态欠规则, 不伴钙化; ¹⁸F FDG-PET/CT为高摄取。垂体柄增粗患者伴甲状腺低回声欠规则结节时优选甲状腺结节粗针穿刺联合CD1a和langerin染色以助诊断。
- 朗格汉斯细胞组织细胞增生症 /
- 甲状腺 /
- 垂体柄增粗
Abstract: Objective To analyze the clinical characteristics of thyroid LCH to enhance understanding of the disease. Methods We retrospectively studied the clinical data from six thyroid LCH patients who hospitalized in Huashan Hospital Affiliated to Fudan University from January 2015 to January 2022.We analyzed the ultrasound and ¹⁸F FDG-PET/CT imaging characteristics of thyroid LCH. Results The six patients diagnosed (2 males and 4 females) were between 18 and 58 years old.All patients had diabetes insipidus.MRI revealed thickened pituitary stalk.Two cases had central hypothyroidism, while four cases euthyroidism.Three cases tested positive for thyroid antibodies.Ultrasound showed thyroid nodules of TI-RADS 3 in three cases, TI-RADS 4 in two cases, and 1 with nodular goiter.Ultrasound showed that all sic cases indicated low echogenicity, 5 of which clear boundaries, 4 of which uneven echo distribution, 5 of which irregular shape, and noen has calcification.¹⁸F FDG-PET/CT indicated high uptake nodules with SUVmax values all above 10.4 cases were diagnosed by surgical excision and the other 2 by coarse-needle aspiration biopsy.When diagnosed, two cases had liver and thymus involvement respectively.One case had lung and bone involvement respectively.After treatment, 4 cases showed that nodular goiter shrank, while the other two with liver involvement progressed fast and no assessment made. Conclusions Thyroid LCH presented low echogenicity, clear boundaries, irregular shape, without calcification, and high uptake in ¹⁸F FDG-PET/CT.A definite diagnosis of pituitary stalk thicking accompanied by thyroid nodules, especially those with hypoechoic and irregular nodules, can be achieved by coarse-needle aspiration biopsy and langerin-specific pathological staining.
- Langerhans cell histiocytosis /
- thyroid /
- pituitary stalk thickness
注释:

作者贡献：论文选题与设计：叶红英、丁天凌；资料收集：王倩、孙全娅、李秋璠、张夏玲；论文初稿撰写：王倩、孙全娅、向博妮；论文整合与修订：叶红英、何敏、张烁、张夏玲、王涌。

利益冲突：所有作者均声明不存在利益冲突。

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图 1 6例甲状腺LCH患者超声及¹⁸F FDG-PET/CT图像

Figure 1. Ultrasound and ¹⁸F FDG-PET/CT images of 6 cases with thyroid LCH

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图 2 垂体冠状位T₁增强MRI图像

NO.4为下丘脑强化病灶，其余为垂体柄强化增粗病灶，箭头所示

Figure 2. Coronal contrast-enhanced T₁-weighted image of pituitary MRI

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图 3 甲状腺LCH组织病理及免疫组化(NO.2)

A.HE染色(×400)；B.CD1a弥漫胞浆阳性(×200)；C.S100弥漫核与胞浆阳性(×200)

Figure 3. Histopathology and immunohistochemistry of thyroid LCH(NO.2)

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表 1 6例甲状腺朗格汉斯细胞组织细胞增生症(LCH)患者的甲状腺功能和甲状腺自身抗体

Table 1. Thyroid function status and thyroid antibodies in 6 cases with thyroid Langerhans cell histiocytosis(LCH)

病例号	TSH (0.27~4.2 mIU/L)	TT₃ (1.3~3.1 nmol/L)	TT₄ (66~181 nmol/L)	FT₃ (3.1~6.8 pmol/L)	FT₄ (12~22 pmol/L)	ATG ＜115 U/mL	ATPO ＜34 U/mL	甲状腺功能
NO.1	3.58	1.44	137	3.58	16.9	199↑	20.5	正常
NO.2	5.167	2.41	127.9	4.71	15.92	NA	37.1↑	正常
NO.3	1.32	1.57	113	1.57	13.9	144↑	246↑	正常
NO.4	0.25↓	0.79↓	79.7	2.40↓	12.2	＜10	＜9	中枢性甲减
NO.5	1.94	1.81	95.8	4.88	14.5	11.8	28.8	正常
NO.6	2.11	0.73↓	73.6	2.16↓	8.37↓	NA	NA	中枢性甲减
TSH：促甲状腺激素；TT₃：总三碘甲腺原氨酸；TT₄：总甲状腺素；FT₃：游离三碘甲状腺原氨酸；FT₄：游离甲状腺素；ATG：甲状腺球蛋白抗体；ATPO：甲状腺过氧化物酶抗体；NA：未检测

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表 2 6例甲状腺LCH患者超声及¹⁸F FDG-PET/CT特点

Table 2. Ultrasound features and ¹⁸F FDG-PET/CT imaging of 6 cases with thyroid LCH

病例号	甲状腺超声						¹⁸F FDG-PET/CT SUVmax值
病例号	分类	单/双侧，单/多发	位置/大小	形态	回声	边界	¹⁸F FDG-PET/CT SUVmax值
NO.1	TI-RADS 3类	双侧，多发	左侧，20 mm×12 mm 右边，17 mm×8 mm	欠规则	不均匀低回声	欠清	10.8
NO.2	TI-RADS 4B类	左侧，单发	左侧，26 mm×22 mm	不规则	欠均匀低回声	尚清	4.5(术后)
NO.3	结节性甲状腺肿	双侧，多发	右侧，47 mm×21 mm 左侧，51 mm×20 mm	不规则	不均匀低回声	清	33.8
NO.4	TI-RADS 3类	双侧，多发	左侧，29 mm×15 mm 右侧较小，未测	规则	尚均匀低回声	清	12.9
NO.5	TI-RADS 3类	双侧，多发	左侧，32 mm×23 mm 右侧，44 mm×23 mm	欠规则	不均匀低回声	清	15.5
NO.6	TI-RADS 4A类	双侧，多发	右侧，32 mm×18 mm 左侧，9 mm×5 mm	欠规则	不均匀低回声	尚清	NA
TI-RADS：甲状腺影像报告和数据系；NA：未检查

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表 3 6例甲状腺LCH患者的诊断经过

Table 3. Diagnostic process of 6 cases with thyroid LCH

病例号	诊断经过
NO.1	2011年9月尿崩症发现垂体柄增粗，2014年病灶增大，2015年病灶自行缩小，全身骨平片及肺CT未见异常。2017年出现肝功能异常。2019年8月¹⁸F FDG-PET/CT发现甲状腺两叶低密度影SUVmax值10.8，鼻咽部SUVmax值12；肝MRI提示多发病灶，活检未能确认LCH诊断；甲状腺粗针穿刺活检后病理确诊LCH。
NO.2	2015年多饮多尿就诊诊断尿崩症，发现垂体柄增粗；2016年复查垂体MRI无进展。2017年6月触及甲状腺肿块且短期内增大，B超提示双侧甲状腺结节4B，行双侧甲状腺结节切除术病理确诊。
NO.3	2015年8月出现停经、多饮多尿，2019年诊断尿崩症，MRI发现垂体柄增粗。2020年8月超声提示结节性甲状腺肿，¹⁸F FDG-PET/CT发现甲状腺两叶肿大密度减低，弥漫性摄取增高(SUVmax值33.8)，行B超引导下甲状腺细针穿刺细胞学提示意义不明的非典型性变；左侧甲状腺次全切病理确诊。
NO.4	2012年多饮多尿就诊诊断尿崩症，发现垂体柄增粗。未随访。2020年出现纳差乏力，体重下降，记忆力减退，2021年4月垂体MRI提示下丘脑占位；甲状腺B超两叶3类结节；¹⁸F FDG-PET/CT提示甲状腺高摄取病灶，SUVmax值12.9，行甲状腺手术病理确诊。
NO.5	2019.3出现多饮多尿，2020年3月就诊诊断尿崩症，发现垂体柄增粗；2021年6月我院就诊甲状腺B超提示3类结节；¹⁸F FDG-PET/CT提示两叶甲状腺肿大伴低密度影，SUVmax值15.5，行甲状腺粗针穿刺病理确诊。
NO.6	2014年出现多饮多尿症状，诊断尿崩症对症治疗，垂体MRI不详。2018年2月乏力下肢无力外院MRI提示鞍区生殖细胞瘤可能，予以放疗，复查病灶缩小。2019年3月外院发现甲状腺两叶低回声结节4B类，甲状腺粗针活检提示异型细胞，加做免疫组化而确诊。

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表 4 全身器官累及情况及治疗疗效随访

Table 4. Systemic organ involvement and follow-up

病例号	全身累及器官	治疗方案	随访时间(个月)	结局
NO.1	鞍区、甲状腺、肝脏、肺	RCD	6	PD(死亡)
NO.2	鞍区、甲状腺、胸腺	VP	68	CR
NO.3	鞍区、甲状腺	VP，SD→Arac	28	PR
NO.4	鞍区、甲状腺、骨	VP，SD→Arac	20	PR
NO.5	鞍区、甲状腺、胸腺	VP	18	PR
NO.6	鞍区、甲状腺、肝脏	VP+COX	10	PD(死亡)
RCD：来那度胺+环磷酰胺+地塞米松；VP：长春新碱+泼尼松；Arac：阿糖胞苷；COX：环磷酰胺；PR：疾病缓解；PD：疾病进展；SD：疾病稳定；CR：疾病完全缓解

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