Mirandola Sara, Pellini Francesca, Granuzzo Eleonora, Lorenzi Maya, Accordini Beatrice, Ulgelmo Maurizio, Invento Alessandra, Lombardi Davide, Caldana Marina, Pollini Giovanni Paolo
Oncologic Surgery Department, Complex Operative Unit of Breast Surgery - Breast Unit AOUI, Verona, Italy.
Oncologic Surgery Department, Complex Operative Unit of Breast Surgery - Breast Unit AOUI, Verona, Italy.
Int J Surg Case Rep. 2019;58:92-95. doi: 10.1016/j.ijscr.2019.03.053. Epub 2019 Apr 5.
Germline CDH1 mutations, classically associated with hereditary diffuse gastric cancer (HDGC), also imply an increased lifetime risk of developing lobular breast cancer (LBC) in a highly penetrant autosomal dominant manner.
We report a 44-year-old woman CDH1 mutation carrier with a strong family history of cancer, who previously had prophylactic total gastrectomy. We registered normal findings at the breast and axilla assessment. Mammography, ultrasonography and breast MRI scans were negative for cancer. In our Institute a bilateral prophylactic mastectomy followed by breast reconstruction was performed. Foci of atypical lobular hyperplasia(ALH) and lobular carcinoma in situ (LCIS) were histologically shown.
The current consensus guidelines for women with pathogenic CDH1 mutations recommend annual mammography, ultrasound, breast MRI scans and clinical breast examination starting at the age of 35. Due to the well-documented aggressive behavior of this particular type of cancer, bilateral mastectomy and reconstruction would be more beneficial for this kind of high-risk patients.
Conflicting evidences and lacking data about the benefits in terms of overall survival, disease-free survival and the long-term outcomes related to prophylactic bilateral mastectomy for CDH1 mutation carriers restrict the instruction for this type of procedure to selected cases, which should always be managed by a multidisciplinary team.
种系CDH1突变，传统上与遗传性弥漫性胃癌（HDGC）相关，也意味着以高度显性的常染色体显性方式患小叶乳腺癌（LBC）的终生风险增加。
我们报告了一名44岁的CDH1突变携带者女性，她有很强的癌症家族史，此前曾接受预防性全胃切除术。我们在乳房和腋窝评估中记录到正常结果。乳房X线摄影、超声检查和乳房MRI扫描均未发现癌症。在我们研究所，进行了双侧预防性乳房切除术并随后进行了乳房重建。组织学显示存在非典型小叶增生（ALH）和小叶原位癌（LCIS）病灶。
目前针对携带致病性CDH1突变女性的共识指南建议从35岁开始每年进行乳房X线摄影、超声检查、乳房MRI扫描和临床乳房检查。鉴于这种特殊类型癌症的侵袭性行为已有充分记录，双侧乳房切除术和重建术对这类高危患者更为有益。
关于CDH1突变携带者预防性双侧乳房切除术在总生存期、无病生存期及长期预后方面益处的证据相互矛盾且数据不足，这限制了将此类手术的指导限于特定病例，且这些病例应始终由多学科团队管理。
