韧带样纤维瘤病

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韧带样纤维瘤病(Desmoid Fibromatosis)
  同义词
  侵袭性纤维瘤病(Aggressive fibromatosis)、韧带样瘤/硬纤维瘤(Desmoid tumor)、肌肉腱膜纤维瘤病(Musculoaponeurotic fibromatosis)
  流行病学
  ●发病率:比浅表(手掌/足底)纤维瘤病少见,大多数是散发性病例,约10%为家族性发病
  ●发病年龄:广泛(最常见于中青年成人)
  ●性别:一般来说男女比例相当,但发生于腹壁者更常见女性
  发病部位
  ●腹腔外:肩、胸壁、背部、大腿、头部/颈部、前腹壁
  ●腹腔:肠系膜、腹膜后、盆腔
  ●非常罕见部位是手和足
  临床表现
  ●通常为大而无痛、生长缓慢的肿块
  ●发生于腹壁者常为孕期或分娩后一年内女性
  ●腹内纤维瘤病:常无症状,或腹部隐痛,或症状与邻近器官受累有关(小肠),输尿管、膀胱等),盆腔肿瘤常被混淆为卵巢肿瘤;~50%与之前的创伤或手术相关情况。发生于肠系膜者常有家族性腺瘤性息肉病(FAP)或Gardner综合征病史
  ●极少数发生于手术疤痕处
  大体表现
  ●边界可能清楚,但实际上边缘有浸润的实性孤立性肿块,切面质硬,灰白,呈小梁状或漩涡状,可有黏液变或囊性变
  ●大小通常为5~10cm,发生于腹腔内可大于10cm
  组织形态学
  ●由形态较一致的梭形纤维母细胞呈束状排列,部分病例局灶席纹状排列组成
  ●细胞丰富者类似于纤维肉瘤
  ●浸润周围脂肪或/和骨骼肌
  ●间质血管以纤细的薄壁血管为主,黏液变性和胶原纤维
  ●核分裂象罕见,细胞无异型
  免疫组化
  ● SMA(+),MSA(+),局灶desmin (+)
  ● ~70%病例β-catenin(核+)
  ● CD34(-), h-caldesmon(-), S100(-), CD117(-)
  分子遗传学
  ●散发性病例CTNNB1基因突变
  ●有家族性腺瘤性息肉病(FAP)或Gardner综合征病史者 APC突变
  鉴别诊断
  ●结节性筋膜炎
  ●低度恶性纤维黏液肉瘤
  ●低度恶性肌纤维母细胞肉瘤
  ●纤维瘢痕
  ●硬化性肠系膜炎/原发性腹膜后纤维化
  ●胃肠道间质瘤(梭形细胞型)?炎性肌纤维母细胞瘤
  ●平滑肌瘤
  ●深部侵袭性血管黏液瘤
  治疗与预后
  ●保留功能的外科切除
  ●原位复发者可放疗,化疗,激素疗法,非甾体抗炎药
  ●预后良好,可局部复发但不转移,罕见死亡病例
  参考文献
  [1] Huss S et al: β-catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. Histopathology. 62(2):294-304, 2013
  [2] Barak S et al: Immunoreactivity for calretinin and keratins in desmoid fibromatosis and other myofibroblastic tumors: a diagnostic pitfall. Am J Surg Pathol. 36(9):1404-9, 2012
  [3] Bertani E et al: Recurrence and prognostic factors in patients with aggressive fibromatosis. The role of radical surgery and its limitations. World J Surg Oncol. 10:184, 2012
  [4] Bo N et al: Analysis of β-catenin expression and exon 3 mutations in pediatric sporadic aggressive fibromatosis. Pediatr Dev Pathol. 15(3):173-8, 2012
  [5] Cates JM et al: Morphologic and immunophenotypic analysis of desmoidtype fibromatosis after radiation therapy. Hum Pathol. 43(9):1418-24, 2012
  [6] Cates JM et al: Signal transduction pathway analysis in fibromatosis: receptor and nonreceptor tyrosine kinases. Hum Pathol. 43(10):1711-8,2012
  [7] Dumont AG et al: A nonrandom association of gastrointestinal stromal tumor (GIST) and desmoid tumor (deep fibromatosis): case series of 28 patients. Ann Oncol. 23(5):1335-40, 2012
  [8] Kim T et al: Prevalence of the CTNNB1 mutation genotype in surgically resected fibromatosis of the breast. Histopathology. 60(2):347-56, 2012
  [9] Romero S et al: Role of tumor-associated macrophages and angiogenesis in desmoid-type fibromatosis. Virchows Arch. 461(2):117-22, 2012
  [10] Wang B et al: Infantile intracranial aggressive fibromatosis: report of two cases with a review of the literature. Pediatr Neurosurg. 48(3):181-6, 2012
  [11] Grabellus F et al: The prevalence of the c-kit exon 10 variant, M541L, in aggressive fibromatosis does not differ from the general population. J Clin Pathol. 64(11):1021-4, 2011
  [12] Hong H et al: Testosterone regulates cell proliferation in aggressive fibromatosis (desmoid tumour). Br J Cancer. 104(9):1452-8, 2011
  [13] de Camargo VP et al: Clinical outcomes of systemic therapy for patients with deep fibromatosis (desmoid tumor). Cancer. 116(9):2258-65, 2010
  [14] Lacroix-Triki M et al: β-catenin/Wnt signalling pathway in fibromatosis, metaplastic carcinomas and phyllodes tumours of the breast. Mod Pathol. 23(11):1438-48, 2010
  [15] Lips DJ et al: The role of APC and beta-catenin in the aetiology of aggressive fibromatosis (desmoid tumors). Eur J Surg Oncol. 35(1):3-10, 2009
  [16] Lazar AJ et al: Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. Am J Pathol. 173(5):1518-27, 2008
  [17] Deyrup AT et al: Estrogen receptor-beta expression in extraabdominal fibromatoses: an analysis of 40 cases. Cancer. 106(1):208-13, 2006
  [18] Heinrich MC et al: Clinical and molecular studies of the effect of imatinib on advanced aggressive fibromatosis (desmoid tumor). J Clin Oncol. 24(7):1195-203, 2006
  [19] Ishizuka M et al: Expression profiles of sex steroid receptors in desmoid tumors. Tohoku J Exp Med. 210(3):189-98, 2006
  [20] Bhattacharya B et al: Nuclear beta-catenin expression distinguishes deep fibromatosis from other benign and malignant fibroblastic and myofibroblastic lesions. Am J Surg Pathol. 29(5):653-9, 2005
  [21] Montgomery E et al: Beta-catenin immunohistochemistry separates mesenteric fibromatosis from gastrointestinal stromal tumor and sclerosing mesenteritis. Am J Surg Pathol. 26(10):1296-301, 2002
  [22] Montgomery E et al: Superficial fibromatoses are genetically distinct from deep fibromatoses. Mod Pathol. 14(7):695-701, 2001
  [23] Gurbuz AK et al: Desmoid tumours in familial adenomatous polyposis. Gut. 35(3):377-81, 1994
  [24] Burke AP et al: Intra-abdominal fibromatosis. A pathologic analysis of 130 tumors with comparison of clinical subgroups. Am J Surg Pathol. 14(4):335-41, 1990
  [25] Burke AP et al: Mesenteric fibromatosis. A follow-up study. Arch Pathol Lab Med. 114(8):832-5, 1990
  [26] Reitamo JJ et al: The desmoid tumor. I. Incidence, sex-, age- and anatomical distribution in the Finnish population. Am J Clin Pathol. 77(6):665-73, 1982
  [27] Practical Soft Tissue Pathology: A Diagnostic Approach.2013
  [28] Diagnostic Pathology: Soft Tissue Tumors.2015
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