Jiang Yi,Yang Chao.Clinical characteristics and treatments of epithelioid inflammatory myofibroblastic sarcoma in children[J].Journal of Clinical Pediatric Surgery,2026,(02):169-173.[doi:10.3760/cma.j.cn101785-202503095]
儿童上皮样炎性肌纤维母细胞肉瘤的临床特征分析
- Title:
- Clinical characteristics and treatments of epithelioid inflammatory myofibroblastic sarcoma in children
- Keywords:
- Epithelioid Inflammatory Myofibroblastic Sarcoma; Signs and Symptoms; Morphological and Microscopic Findings; Surgical Procedures; Operative; Treatment; Treatment Outcome; Child
- 摘要:
- 目的 探讨儿童上皮样炎性肌纤维母细胞肉瘤(epithelioid inflammatory myofibroblastic sarcoma,EIMS)的临床特征、病理特征及治疗策略。方法 回顾性分析2013年3月至2022年3月重庆医科大学附属儿童医院收治的7例病理诊断为EIMS患儿的临床资料,包括人口学特征、临床表现、辅助检查结果、治疗及预后。结果 7例患儿中,男4例、女3例,中位年龄7岁3个月。病变部位:腹腔5例,纵隔1例,盆腔1例。临床特征以贫血、发热及炎症性指标升高为主。超声及CT检查显示实质性包块。术后病理学检查提示为梭形或上皮样肿瘤细胞,伴炎性细胞浸润,免疫组织化学染色VIM、ALK、SMA、CK阳性,5例荧光原位杂交技术检测提示ALK基因重排。4例接受手术联合化疗,2例仅接受手术,1例接受化疗、手术联合靶向治疗。随访7~95个月,除1例手术后化疗患儿治疗过程中复发、转移,家属放弃治疗后失访外,其余6例均无瘤生存。结论 儿童EIMS好发于腹腔,临床表现多样且缺乏特异性,通常与病变部位及肿瘤性质相关;免疫组织化学染色及FISH检测有助于诊断;手术是EIMS主要治疗方式,联合化疗或靶向治疗效果良好。
- Abstract:
- Objective To explore the clinical characteristics,pathological features and treatments of epithelioid inflammatory myofibroblastic sarcoma(EIMS) in children. Methods From March 2013 to March 2022,the relevant clinical data were retrospectively reviewed for 7 children with diagnosed pathologically EIMS at Children’s Hospital of Chongqing Medical University.Demographic profiles,clinical manifestations,laboratory measurements,treatments and outcomes were recorded. Results There were 4 boys and 3 girls with a median age of 7 years and 3 months.The lesions were located in abdominal cavity (n=5),mediastinum (n=1) and pelvis (n=1). Anemia,fever and elevated inflammatory parameters as the major manifestations,ultrasound and CT revealed a solid mass.Pathological examinations indicated fusiform or epithelioid tumor cells often with an infiltration of inflammatory cells.Immunohistochemical stain was frequently positive for VIM,ALK,SMA and CK.Fluorescence in situ hybridization (FISH) detection revealed ALK gene rearrangement (n=5).The protocols included surgery plus chemotherapy(n=4),surgery alone (n=2) and chemotherapy plus surgery and targeted therapy (n=1).The follow-up period was (7-95) month.Except for 1 child relapsing and metastasizing during postoperative chemotherapy and lost to follow-ups after parental giving up treatment,the remainders attained disease-free survival (DFS). Conclusions EIMS is more common in abdominal cavity in children.Its clinical manifestations are diverse and non-specific.It is correlated closely with location and nature of lesions.Immunohistochemical stain and FISH detection help to confirm a diagnosis.Surgery is a major treatment along with chemotherapy or targeted therapy.The efficacy of comprehensive treatment is excellent.
参考文献/References:
[1] Siemion K,Reszec-Gielazyn J,Kisluk J,et al.What do we know about inflammatory myofibroblastic tumors?-A systematic review[J].Adv Med Sci,2022,67(1):129-138.DOI:10.1016/j.advms.2022.02.002.
[2] Choi JH,Ro JY.The 2020 WHO classification of tumors of soft tissue:selected changes and new entities[J].Adv Anat Pathol,2021,28(1):44-58.DOI:10.1097/PAP.0000000000000284.
[3] 胡嘉健,黄一晋,韩建宇,等.小儿腹部炎性肌纤维母细胞瘤诊治探讨[J].临床小儿外科杂志,2020,19(4):336-341.DOI:10.3969/j.issn.1671-6353.2020.04.011. Hu JJ,Huang YJ,Han JY,et al.Clinical diagnoses and treatment options of abdominal inflammatory myofibroblastic tumors in children[J].J Clin Ped Sur,2020,19(4):336-341.DOI:10.3969/j.issn.1671-6353.2020.04.011.
[4] Mari?o-Enríquez A,Wang WL,Roy A,et al.Epithelioid inflammatory myofibroblastic sarcoma:an aggressive intra-abdominal variant of inflammatory myofibroblastic tumor with nuclear membrane or perinuclear ALK[J].Am J Surg Pathol,2011,35(1):135-144.DOI:10.1097/PAS.0b013e318200cfd5.
[5] Collins K,Ramalingam P,Euscher ED,et al.Uterine inflammatory myofibroblastic neoplasms with aggressive behavior,including an epithelioid inflammatory myofibroblastic sarcoma:a clinicopathologic study of 9 cases[J].Am J Surg Pathol,2022,46(1):105-117.DOI:10.1097/PAS.0000000000001756.
[6] Azad M,Oye M,Torrente N,et al.Pericardial epithelioid inflammatory myofibroblastic sarcoma:an atypical presentation[J].Cureus,2022,14(7):e26827.DOI:10.7759/cureus.26827.
[7] Cheng HY,Lin Y,Zhu J,et al.Clinical features,treatment strategies,and prognosis of epithelioid inflammatory myofibroblastic sarcoma in children:a multicenter experience[J].Transl Pediatr,2024,13(2):288-299.DOI:10.21037/tp-23-590.
[8] Vernemmen AIP,Samarska IV,Speel EM,et al.Abdominal inflammatory myofibroblastic tumour:Clinicopathological and molecular analysis of 20 cases,highlighting potential therapeutic targets[J].Histopathology,2024,84(5):794-809.DOI:10.1111/his.15122.
[9] 王嘉琪,马晓莉,金眉,等.儿童上皮样炎性肌纤维母细胞肉瘤4例病例报告[J].中国循证儿科杂志,2023,18(6):470-474.DOI:10.3969/j.issn.1673-5501.2023.06.013. Wang JQ,Ma XL,Jin M,et al.Epithelioid inflammatory myofibroblastic sarcoma in children:a report of 4 cases[J].Chin J Evid Based Pediatr,2023,18(6):470-474.DOI:10.3969/j.issn.1673-5501.2023.06.013.
[10] Wan YY,Miao CL,Liu SB,et al.Epithelioid inflammatory myofibroblastic sarcoma with leukemoid reaction[J].J Coll Physicians Surg Pak,2022,32(9):1212-1215.DOI:10.29271/jcpsp.2022.09.1212.
[11] Batool S,Ahuja A,Chauhan DS,et al.Epithelioid inflammatory myofibroblastic sarcoma:the youngest case reported[J].Autops Case Rep,2021,11:e2021288.DOI:10.4322/acr.2021.288.
[12] Du XM,Gao Y,Zhao HY,et al.Clinicopathological analysis of epithelioid inflammatory myofibroblastic sarcoma[J].Oncol Lett,2018,15(6):9317-9326.DOI:10.3892/ol.2018.8530.
[13] Yu L,Liu JG,Lao IW,et al.Epithelioid inflammatory myofibroblastic sarcoma:a clinicopathological,immunohistochemical and molecular cytogenetic analysis of five additional cases and review of the literature[J].Diagn Pathol,2016,11(1):67.DOI:10.1186/s13000-016-0517-z.
[14] Ma ZG,Hill DA,Collins MH,et al.Fusion of ALK to the ran-binding protein 2(RANBP2) gene in inflammatory myofibroblastic tumor[J].Genes Chromosomes Cancer,2003,37(1):98-105.DOI:10.1002/gcc.10177.
[15] Lee JC,Li CF,Huang HY,et al.ALK oncoproteins in atypical inflammatory myofibroblastic tumours:novel RRBP1-ALK fusions in epithelioid inflammatory myofibroblastic sarcoma[J].J Pathol,2017,241(3):316-323.DOI:10.1002/path.4836.
[16] Wang Z,Geng Y,Yuan LY,et al.Durable clinical response to ALK tyrosine kinase inhibitors in epithelioid inflammatory myofibroblastic sarcoma harboring PRRC2B-ALK rearrangement:a case report[J].Front Oncol,2022,12:761558.DOI:10.3389/fonc.2022.761558.
[17] Li XQ,Zheng JF,Li XY,et al.Case report:ensartinib for gastric epithelioid inflammatory myofibrosarcoma with STRN-ALK fusion[J].Front Oncol,2023,13:1252221.DOI:10.3389/fonc.2023.1252221.
[18] Chopra S,Maloney N,Wang WL.Correction to:epithelioid inflammatory myofibroblastic sarcoma with VCL-ALK fusion of central nervous system:case report and brief review of the literature[J].Brain Tumor Pathol,2022,39(1):43.DOI:10.1007/s10014-021-00425-y.
[19] Li MM,Xing RY,Huang JY,et al.Case report:Epithelioid inflammatory myofibroblastic sarcoma treated with an ALK TKI ensartinib[J].Front Oncol,2023,13:1084456.DOI:10.3389/fonc.2023.1084456.
[20] Wu XC,Zhu JX,Yan YC,et al.Epithelioid inflammatory myofibroblastic sarcoma treated with Alectinib:a case report and literature review[J].Front Oncol,2024,14:1412225.DOI:10.3389/fonc.2024.1412225.
[21] Lin JJ,Riely GJ,Shaw AT.Targeting ALK:precision medicine takes on drug resistance[J].Cancer Discov,2017,7(2):137-155.DOI:10.1158/2159-8290.CD-16-1123.
[22] Xu XJ,Li H,Peng K,et al.ALK-G1269A mutation in epithelioid inflammatory myofibroblastic sarcoma after progression on crizotinib:a case report[J].Oncol Lett,2019,17(2):2370-2376.DOI:10.3892/ol.2018.9865.
[23] Fordham AM,Xie JH,Gifford AJ,et al.CD30 and ALK combination therapy has high therapeutic potency in RANBP2-ALK-rearranged epithelioid inflammatory myofibroblastic sarcoma[J].Br J Cancer,2020,123(7):1101-1113.DOI:10.1038/s41416-020-0996-2.
[24] Balar AV,Weber JS.PD-1 and PD-L1 antibodies in cancer:current status and future directions[J].Cancer Immunol Immunother,2017,66(5):551-564.DOI:10.1007/s00262-017-1954-6.
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备注/Memo
收稿日期:2025-3-25。
通讯作者:杨超,Email:400843@hospital.cqmu.edu.cn