成人眼眶黄色肉芽肿病临床病理分析及文献复习

doi:10.6040/j.issn.1673-3770.0.2024.008

摘要/Abstract

摘要： 目的探讨成人眼眶黄色肉芽肿病的临床病理特征、诊断、鉴别诊断及预后。方法回顾性分析1例56岁男性成人眼眶黄色肉芽肿病(adult orbital xanthogranulomatous disease AOXGD,AOXGD)患者的临床病理资料并复习相关文献进行总结。结果发现双眼睑肿物7年,伴逐渐增大。巨检:左眼上睑肿物一块,大小1.0 cm×0.8 cm×0.3 cm,切面灰黄质韧,左眼下睑肿物一块,大小3.0 cm×2.0 cm×0.9 cm切面灰黄质中。镜检:病变位于真皮及皮下组织,见多量组织细胞浸润,部分胞浆嗜酸性,核偏位,大部分组织细胞胞浆呈泡沫状,背景伴有不等量淋巴细胞、浆细胞、多核巨细胞(Touton巨细胞),局部骨骼肌内见泡沫样组织细胞浸润。免疫表型:组织细胞CD68、CD163、TREM-1 阳性,CD1a、S-100、IgG4、Langerin均阴性,Ki67约5%。BRAF V600E基因检测无突变。结论 AOXGD在临床上较为罕见,病理分型较多,诊断与治疗存在一定困难,容易误诊误治。其中AOX亚型单纯手术切除,预后好, ECD亚型预后最差,伴有BRAF V600E突变患者,可用靶向药物威罗菲尼治疗。TREM-1 可能参与泡沫样组织细胞的形成,与AOXGD发生相关,有望成为AOXGD 治疗的一个新的靶点或监测 AOXGD复发进展的一项新指标。

关键词: 成人眼眶黄色肉芽肿病, 亚型, 免疫组化, 鉴别诊断, TREM-1

Abstract: Objective To investigate the clinicopathological features, diagnosis, differential diagnosis and prognosis of adult orbital xanthogranulomatous disease. Methods The clinical and pathology data of one 56 year old male patient with Adult orbital xanthogranulomatous disease(AOXGD)were retrospectively analyzed, along with a review and summarize of the relevant literatures. Results The patient was male, 56 year old. Both eyelid masses were found for 7 years, with gradual enlargement. Giant examination: a upper eyelid mass of the left eye, size 1.0 cm×0.8 cm×0.3 cm, section surface gryxanthin tough, left eye eyelid mass, size 3.0 cm×2.0 cm×0.9 cm section gryxanthin. Microscopy: The lesion is located in the subcutaneous tissue with multiple histiocytic infiltration, Partly acidophilic and biased, the majority of histiocytes were foamy, Background with unequal amounts of lymphocytes, plasma cells, multinucleated giant cells(Duton cells), and foamy id histiocytic infiltration in local skeletal muscle. Immunophenotype: histiocytes were positive for CD68 and CD163, TREM-1 negative for CD1a, S-100 and Lahrin-, about 5% Ki67. BRAF V600E gene detection without mutation. Conclusion AOXGD is relatively rare in clinical practice, with multiple pathological subtypes, making diagnosis and treatment difficult and prone to misdiagnosis and mistreatment. Among them, AOX subtype with simple surgical resection has a good prognosis, while ECD subtype has the worst prognosis. Patients with BRAF V600E mutation can be treated with targeted drug Verofinib. TREM-1 may participate in the formation of foam like tissue cells and be related to the occurrence of AOXGD. It is expected to become a new target for AOXGD treatment or a new indicator for monitoring the recurrence and progress of AOXGD.

Key words: Adult orbital xanthogranulomatous disease, Subtype, Immunohistochemistry, Differential diagnosis, TREM-1

中图分类号:

R365

李桂,杨艳丽,李东海,闫秀英. 成人眼眶黄色肉芽肿病临床病理分析及文献复习[J]. 山东大学耳鼻喉眼学报, 2024, 38(5): 80-85.

LI Gui, YANG Yanli, LI Donghai, YAN Xiuying. Adult orbital xanthogranulomatous disease with clinicopathological analysis report and literature review[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2024, 38(5): 80-85.

参考文献

[1] 廖静雯, 陈敏, 李娜, 等. 累及喉部的进行性结节性组织细胞增生症1例并文献复习[J]. 山东大学耳鼻喉眼学报, 2021, 35(4): 35-39. doi:10.6040/j.issn.1673-3770.0.2021.140 LIAO Jingwen, CHEN Min, LI Na, et al. Laryngeal involvement in progressive nodular Histiocytosis: a case report with literature review[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2021, 35(4): 35-39. doi:10.6040/j.issn.1673-3770.0.2021.140
[2] Ortiz Salvador JM, Subiabre Ferrer D, Pérez Ferriols A. Adult xanthogranulomatous disease of the orbit: clinical presentations, evaluation, and management[J]. Actas Dermosifiliogr, 2017, 108(5): 400-406. doi:10.1016/j.ad.2016.12.005
[3] 王玉川,李静,林锦镛. 成人眼眶黄色肉芽肿病伴泪腺反应性淋巴组织增生的临床病理学特征[J]. 中华眼科杂志, 2022, 58(9): 682-687. doi:10.3760/cma.j.cn112142-20220128-00037 WANG Yuchuan, LI Jing, LIN Jinyong. The clinicopathological features of adult orbital xanthogranulomatous disease with lacrimal gland reactive lymphoid hyperplasia[J]. Chinese Journal of Ophthalmology, 2022, 58(9): 682-687. doi:10.3760/cma.j.cn112142-20220128-00037
[4] Kerstetter J, Wang J. Adult orbital xanthogranulomatous disease: a review with emphasis on etiology, systemic associations, diagnostic tools, and treatment[J]. Dermatol Clin, 2015, 33(3): 457-463. doi:10.1016/j.det.2015.03.010
[5] Scappaticci S, Danesino C, Rossi E, et al. Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langerhans cell Histiocytosis[J]. Br J Haematol, 2000, 111(1): 258-262. doi:10.1046/j.1365-2141.2000.02313.x
[6] Du C, Peng LJ, Kou GJ, et al. Assessment of serum sTREM-1 as a marker of subclinical inflammation in diarrhea-predominant patients with irritable bowel syndrome[J]. Dig Dis Sci, 2018, 63(5): 1182-1191. doi:10.1007/s10620-018-5002-y
[7] Klesney-Tait J, Keck K, Li XP, et al. Transepithelial migration of neutrophils into the lung requires TREM-1[J]. J Clin Invest, 2013, 123(1): 138-149. doi:10.1172/JCI64181
[8] Arts RJ, Joosten LA, van der Meer JW, et al. TREM-1: intracellular signaling pathways and interaction with pattern recognition receptors[J]. J Leukoc Biol, 2013, 93(2): 209-215. doi:10.1189/jlb.0312145
[9] 王婷婷, 林婷婷, 刘勋, 等. 眼眶成人型黄色肉芽肿的临床分析[J]. 中华眼科杂志, 2019, 55(5): 381-386. doi:10.3760/cma.j.issn.0412-4081.2019.05.013 WANG Tingting, LIN Tingting, LIU Xun, et al. Clinical analysis of adult onset orbital xanthogranuloma[J]. Chinese Journal of Ophthalmology, 2019, 55(5): 381-386. doi:10.3760/cma.j.issn.0412-4081.2019.05.013
[10] 赵荧, 蔡凤梅, 刘辉, 等. 成人型眼眶黄色肉芽肿病5例临床病理特征分析[J]. 国际眼科杂志, 2022, 22(1): 158-162. doi:10.3980/j.issn.1672-5123.2022.1.35 ZHAO Ying, CAI Fengmei, LIU Hui, et al. Clinicopathological characteristics of 5 cases of adult orbital xanthogranulomatous disease[J]. International Eye Science, 2022, 22(1): 158-162. doi:10.3980/j.issn.1672-5123.2022.1.35
[11] Cavallazzi R, Hirani A, Vasu TS, et al. Clinical manifestations and treatment of adult-onset asthma and periocular xanthogranuloma[J]. Can Respir J, 2009, 16(5): 159-162. doi:10.1155/2009/103241
[12] London J,Martin A,Soussan M,et al. Adult Onset Asthma and Periocular Xanthogranuloma(AAPOX), a Rare Entity With a Strong Link to IgG4-Related Disease: An Observational Case Report Study[J] Medicine(Baltimore),2015,94(43):1916. doi: 10.1097/MD.0000000000001916
[13] Asproudis I, Kanari M, Ntountas I, et al. Successful treatment with rituximab of IgG4-related disease coexisting with adult-onset asthma and periocular xanthogranuloma[J]. Rheumatol Int, 2020, 40(4): 671-677. doi:10.1007/s00296-019-04409-2
[14] 谢洪彬,杨美娜,陈青山,等,IgG4相关性眼病伴继发性青光眼病例分析[J]. 山东大学耳鼻喉眼学报, 2018, 32(2): 99-102. doi: 10.6040/j.issn.1673-3770.0.2017.354 XIE Hongbin, YANG Meina, CHEN Qingshan, et al. Analysis of immunoglobulin G4-related ophthalmic disease associated with secondary glaucoma[J].Journal of Otolaryngology and Ophthalmology of Shandong University, 2018, 32(2): 99-102. doi: 10.6040/j.issn.1673-3770.0.2017.354
[15] Balagula Y, Straus DJ, Pulitzer MP, et al. Necrobiotic xanthogranuloma associated with immunoglobulin m paraproteinemia in a patient with Waldenström macroglobulinemia[J]. J Clin Oncol, 2011, 29(11): e305-e307. doi:10.1200/JCO.2010.32.4921
[16] Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease[J]. Blood, 2020, 135(16): 1311-1318. doi:10.1182/blood.2019002766
[17] Haroche J, Charlotte F, Arnaud L, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses[J]. Blood, 2012, 120(13): 2700-2703. doi:10.1182/blood-2012-05-430140
[18] Bosco MC, Raggi F, Varesio L. Therapeutic potential of targeting TREM-1 in inflammatory diseases and cancer[J]. Curr Pharm Des, 2016, 22(41): 6209-6233. doi:10.2174/1381612822666160826110539
[19] 王洋, 周慧芳, 范先群. 免疫球蛋白G4相关性眼眶病的临床研究进展[J]. 国际眼科杂志, 2016, 16(5): 852-855. doi:10.3980/j.issn.1672-5123.2016.5.15 WANG Yang, ZHOU Huifang, FAN Xianqun. Current clinical research of immunoglobulin G4-related orbital disease[J]. International Eye Science, 2016, 16(5): 852-855. doi:10.3980/j.issn.1672-5123.2016.5.15
[20] Haroche J, Abla O. Uncommon histiocytic disorders: Rosai-Dorfman, juvenile xanthogranuloma, and Erdheim-Chester disease[J]. Hematology Am Soc Hematol Educ Program, 2015, 2015: 571-578. doi:10.1182/asheducation-2015.1.571
[21] Kerstetter J, Wang J. Adult orbital xanthogranulomatous disease: a review with emphasis on etiology, systemic associations, diagnostic tools, and treatment[J]. Dermatol Clin, 2015, 33(3): 457-463. doi:10.1016/j.det.2015.03.010
[22] Sivak-Callcott JA, Rootman J, Rasmussen SL, et al. Adult xanthogranulomatous disease of the orbit and ocular adnexa: new immunohistochemical findings and clinical review[J]. Br J Ophthalmol, 2006, 90(5): 602-608. doi:10.1136/bjo.2005.085894
[23] Maeng MM, Godfrey KJ, Jalaj S, et al. Adult xanthogranulomatous disease of the orbit: case report of spontaneous regression and review of treatment modalities[J]. Orbit, 2020, 39(1): 31-37. doi:10.1080/01676830.2019.1590421
[24] Bijlsma WR, van den Bosch WA, van Daele PLA, et al. Azathioprine and prednisone combination treatment for adult periocular and orbital xanthogranulomatous disease[J]. Acta Ophthalmol, 2011, 89(3): e278-e282. doi:10.1111/j.1755-3768.2009.01726.x
[25] Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease[J]. Blood, 2020, 135(16): 1311-1318. doi:10.1182/blood.2019002766
[26] Haroche J, Cohen-Aubart F, Emile JF, et al. Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAF(V600E)-mutated Erdheim-Chester disease[J]. J Clin Oncol, 2015, 33(5): 411-418. doi:10.1200/JCO.2014.57.1950
[27] Kiratli H, Kiliç M, Tarlan B, et al. Adult orbital xanthogranulomas: clinical features and management[J]. Eur J Ophthalmol, 2015, 25(4): 288-292. doi:10.5301/ejo.5000555

多维度评价

Viewed

Full text

Abstract

Cited

Shared

Discussed