- 期刊
A PTEN Mutation in Cowden Syndrome Patient with Forearm Intramuscular Hemangioma-＂A Case Report and Literature Review＂
PTEN基因變異在Cowden Syndrome前臂患有肌肉內血管瘤病患的表現－病例報告及文獻回顧
摘要
背 景：Cowden syndrome（CS）是一種自體顯性遺傳的疾病，有多種不同的臨床表現。患有CS的病人有很高的機會得到胸部、甲狀腺及子宮內膜的癌症。過去的病例報告指出Cowden syndrome與PTEN基因的變異有很大的相關性。目的及目標：我們分享一個患有左前臂及甲狀腺腫瘤的病例，在腫瘤切除後基因顯示病患患有Cowden syndrome。材料及方法：這一篇病例報告指出一18歲亞洲男性病人患有持續擴大之左前臂腫瘤及甲狀腺腫瘤一年後，接受甲狀腺腫瘤切除及左前臂腫瘤切除。組織皆送病理切片，血液樣本、組織樣本及腫瘤皆送基因檢測。結 果：病人在腫瘤切除後，手部功能正常，經一年的追蹤，並無任何痲痹、疼痛或無力的症狀。檢體經基因檢視後發現在第10對染色體的exon 2及exon 5有基因變異的情況。結 論：Cowden syndrome跟身體多處腫瘤的產生相關，表現符合PTEN基因的變異，此病例報告證實Cowden syndrome也與產生前臂腫瘤之相關性。
關鍵字
無資料並列摘要
Background: Cowden syndrome (CS) is a hereditary autosomal dominant syndrome with a marked variable expression. The patient with CS has a high risk of developing breast, thyroid and endometrial cancers. It has been demonstrated a close relationship between Cowden syndrome and PTEN gene mutation. Aim and Objectives: We present a case with left forearm tumor and thyroid tumor. A genetic study showed the patient has Cowden syndrome. Materials and Methods: An Asian patient, 18-year-old male, who sustained a progressively growing elastic left forearm mass for one year and an incidental finding of a lobulated right thyroid tumor extending to left neck, and a left subclavian fossa lipoma. The patient received right thyroid lobectomy, left neck lipoma excision and left forearm hemangioma excision. Specimens were all sent to pathologic study and the blood sample, normal tissue and left forearm tumor were sent for PTEN survey. Results: Postoperatively, the patient did not present any extrinsic or intrinsic functional deficit over left forearm and hand. Right thyroid mass showed follicular adenoma and left forearm was intramuscular hemangioma. Abnormal expression of exon 2 and exon 5 over chromosome 10 was noted. One deletion at 159^(th) base pair in cDNA of exon 2 was also noted. T/A cloning sequence in exon 5 showed deletion at 340 ~ 344^(th) base pair cDNA in tumor tissue. All these clues were deduced to a PTEN gene mutation in Cowden syndrome with the correlated clinical presentations. Conclusion: Cowden syndrome is correlated with multiple tumor formation. This paper showed the correlation with forearm tumor and Cowden syndrome.