RADIOTHERAPY OF RECURRENT FIBROMATOSIS IN GARDNER SYNDROME: REPORT OF TWO CASES IN A FAMILY

加德納症候群(Gardner syndrome)之復發纖維瘤病的放射線治療:單一家族的兩病例個案報告

劉威麟(Wei-Lin Liu) ； 林立青(Li-Ching Lin) ； 張力允(Li-Yun Chang) ； 蔣維凡(Wei-Fang Chiang) ； 沈宛霖(Wan-Lin Shen) ； 張裕綱(Yu-Kang Chang) ； 何聖佑(Sheng-Yow Ho)

《放射治療與腫瘤學》 23卷1期 (2016/03) Pp. 67-76

https://doi.org/10.6316/TRO/201623(1)67

摘要

加德納症候群有三種主要的臨床表現，分別是大腸息肉病、皮膚或軟組織的間質細胞腫瘤、及骨瘤。此症候群的發病是以染色體顯性遺傳，統計上患者的子女約有一半都會受影響。加德納症候群可視為家族性結直腸息肉綜合症（familial adenomatous polyposis[FAP]）的一種變型，兩者都是源自於FAP基因變異的遺傳性疾病。因此加德納症候群有多樣在大腸外的症狀表現，目前認為是因為基因不同的外顯率表現所致。加德納症候群易產生腫瘤有骨瘤、表皮樣 囊腫、脂肪瘤、纖維瘤、神經纖維瘤、皮膚色素病變、及纖維瘤病（fibromatosis）等不同腫瘤病變。文獻上又稱深部纖維瘤病為類結締織瘤（desmoid tumor）或侵襲性（aggressive）纖維瘤病。在加德納症候群病患的發生比率約在3-5%。纖維瘤病的治療適應症是在於造成臨床症狀、破壞周圍組織功能、或是影響美觀的時才需治療。手術切除是最常採取的初步治療方式，但是即使大範圍手術切除，術後仍常會有局部復發的問題。對於加德納症候群引起之纖維瘤病，於復發或無法切除時，放射線治療是可考慮的救援性治療。我們提出兩位罕見加德納症候群併纖維瘤病的病人接受放射線治療經驗。兩位都是術後 再復發，造成臨床不適症狀，並且影響生活品質及容貌美觀。給予五至六周的局部放射治療，總劑量50至54Gy，以每次1.8至2Gy分次劑量。在一年以上臨床追蹤，纖維瘤病對放射線治療效果良好，腫瘤持續縮小。對於臨床疼痛和容貌都有顯著的改善。病人治療副作用輕微，只產生急性放射副作用反應的第一級皮膚炎，口腔炎及口乾反應。我們的初步治療經驗顯示，對於復發或無法切除加德納症候群引起良性纖維瘤病，放射線治療是很好的救援性治療。

關鍵字

放射線治療 ； 纖維瘤病 ； 類結締織瘤 ； 加德納症候群

並列摘要

The triad of colonic polyposis, mesenchymal tumors of the skin or soft tissues, and osteomas, is known as Gardner syndrome (GS). This syndrome is inherited as an autosomal-dominant trait that occurs in approximately half of the children of afflicted parents. GS is the variant of familial adenomatous polyposis (FAP), and shares the same genetic disorder as FAP. The fact that GS is associated with extra-colonic manifestations may be the result of a variable penetrance of a common genetic mutation. GS may present osteomas of the bones, sebaceous or epidermoid cysts, fibromas, neurofibromas, lipomas, pigmented skin lesions, or fibromatosis. The deep fibromatosis is most commonly referred to as a desmoid tumor or aggressive fibromatosis in the literature, and appears in only approximately 3-5% of affected individuals with GS. Treatment of fibromatosis is indicated only when it causes clinical symptoms, dysfunction of adjacent structures, or aesthetic concerns. Surgical excision is generally advised first; however, there may be local recurrence even following a wide resection. Local radiotherapy could be used in un-resectable or recurrent fibromatosis for symptoms alleviation. We present two rare cases of GS in a family with recurrent fibromatosis after repeated excision. The tumor caused clinical symptoms, affected daily life and had negative aesthetic effects. A 50-54 Gy radiation dose in 1.8-2 Gy fractions was delivered to the involved tumor region in a 5-6 week course. Fibromatosis responded to radiotherapy, and the tumor regressed during serial follow-ups for more than a year. Radiation therapy achieved satisfactory results in local control and cosmetic outcome. The pain and disfiguration could all be ameliorated. Treatment was well tolerated, with only Grade 1 radiation dermatitis, mucositis, and xerostomia using the acute radiation morbidity scoring criteria. Our results support that radiotherapy could be used as salvage therapy for such recurrent benign tumors.

並列關鍵字

Radiotherapy ； Fibromatosis ； Desmoid tumor ； Gardner syndrome