北京大学学报(医学版) ›› 2019, Vol. 51 ›› Issue (6): 1165-1168. doi: 10.19723/j.issn.1671-167X.2019.06.033

• 疑难/罕见病例分析 • 上一篇    下一篇

腺泡状横纹肌肉瘤椎管内转移1例

林国中,王振宇1,(),刘彬1,杨邵敏2   

  1. 1. 北京大学第三医院 神经外科,北京 100191
    2. 北京大学第三医院 病理科,北京 100191
  • 收稿日期:2017-10-20 出版日期:2019-12-18 发布日期:2019-12-19
  • 通讯作者: 王振宇 E-mail:wzyu502@hotmail.com
  • 基金资助:
    首都临床特色应用研究项目(Z171100001017120)

Intraspinal metastasis of alveolar rhabdomyosarcoma: A case report

Guo-zhong LIN,Zhen-yu WANG1,(),Bin LIU1,Shao-min YANG2   

  1. 1. Department of Neurosurgery, Peking University Third Hospital, Beijing 100191, China
    2. Department of Pathology, Peking University Third Hospital, Beijing 100191, China
  • Received:2017-10-20 Online:2019-12-18 Published:2019-12-19
  • Contact: Zhen-yu WANG E-mail:wzyu502@hotmail.com
  • Supported by:
    Supported by the Capital Foundation for Clinical Characteristics and Application Research(Z171100001017120)

摘要:

北京大学第三医院神经外科2017年收治1例颈椎管内腺泡状横纹肌肉瘤(alveolar rhabdomyosarcoma,ARMS)转移病例,回顾其临床病理特征,手术治疗、化疗及预后情况,并复习国内外文献报道,对该病的诊断、鉴别诊断以及治疗预后进行综合分析,以提高临床医生对这一罕见疾病的认识。本例患者病情发展快,原发病灶为无痛性包块,1年余出现椎管内转移,有明显的疼痛。给予手术切除,病理诊断为小细胞恶性肿瘤,免疫组织化学Myogenin(+)、MyoD1(+)。FOXO1基因FISH检测阳性,>50%的细胞核显示红绿信号分离,且红绿信号之间的距离大于两个信号点的直径,支持腺泡状横纹肌肉瘤的诊断。全切椎管内肿瘤并术后化疗,但肿瘤药物反应差,病情进展快,迅速出现椎管内播散转移。ARMS少见,侵袭性强,预后不佳,硬膜下转移罕见,临床医生要充分利用现代分子生物学诊断方法,做出正确的诊断和分型,才能有效指导治疗。

关键词: 横纹肌肉瘤, 腺泡状横纹肌肉瘤, PAX-FKHR

Abstract:

This paper reported a case of cervical intraspinal metastasis of alveolar rhabdomyosarcoma (ARMS). The clinicopathological features,surgical treatment,chemotherapy and prognosis were introduced and the current literature was reviewed. The diagnosis,differential diagnosis,treatment,molecular features and prognosis of the disease were comprehensively analyzed to improve clinicians’ knowledge of this rare disease. The primary lesion appeared about 1 year ago which was painless mass of left hand whose size was about 2 cm×2 cm. After conservative treatment;,the mass gradually enlarged and the mass was resected. Postoperative pathology revealed embryonic rhabdomyosarcoma. Postoperative chemotherapy with recombinant human endostatin,liposomal doxorubicin and ifosfamide was performed. The left neck mass was found about 3 months ago,and then the left neck mass was resected under general anesthesia. Postoperative pathological examination showed small round cell malignant tumors. Severe left upper extremity pain began about 2 weeks ago with nocturnal pain and supine pain. Non-steroidal anti-inflammatory drugs were needed to relieve pain which was accompanied by numbness and weakness of the left upper extremity. MRI showed a intraspinal tumor at C5. The left thumb and index finger were absent. Hypoesthesia,muscle atrophy and hypotonia of the left upper limb were confirmed. The muscle strength of biceps brachii and deltoid muscle of the left upper limb was grade 0,the muscle strength of extensor carpus and interphalangeal muscle was grade Ⅱ,the muscle strength of intrinsic muscles of hands was grade Ⅰ. The tendon reflex of the left upper limb disappeared. Intraspinal mass was removed and the pain was relieved. But there was no significant change in the muscle strength of the left upper limb. Pathological examination revealed small cell malignancies which were poorly differentiated with diffuse patchy distribution and disordered arrangement. The tumor cells had round,oval or irregular nuclei,and few cytoplasms were positive for Myogenin and MyoD1. FISH test of FOXO1 gene was positive. More than 50% of nuclei showed red-green signal separation,and the distance between red-green signals was larger than double diameter of the signal points,which supported ARMS. Total resection of intraspinal tumors was achieved and postoperative chemotherapy was admitted. But intraspinal disseminated metastasis occurred rapidly. ARMS was rare,aggressive tumor with poor prognosis. Subdural metastasis was rare. Correct diagnosis and classification can be made only with help of modern molecular diagnostic methods,which is effective to guide the treatment.

Key words: Rhabdomyosarcoma, Alveolar rhabdomyosarcoma (ARMS), PAX-FKHR

中图分类号: 

  • R739.4

图1

术前磁共振检查结果(2017-04-15)"

图2

术后病理(HE染色 ×100)"

图3

Myogenin免疫组化染色(×200)"

图4

FOXO1 FISH检测"

图5

术后1周复查磁共振(2017-05-09)"

图6

术后5个月复查磁共振(2017-10-16)"

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