神经纤维瘤病Ⅰ型合并双侧原发性乳腺癌1例报道及文献复习

摘要

Objective To investigate the clinical features and pathological characteristics of neurofibromatosis type Ⅰconsolidation of bilateral metachronous primary breast cancer and improve diagnosis and treatment of such diseases. Methods Re-view of clinical data of one case of neurofibromatosis typeⅠconsolidation of bilateral metachronous primary breast cancer,and re-view of the literature,summarize and analyze such diseases related characteristics,treatment and prognosis. Results This NF1 pa-tient was diagnosed with right breast cancer( StageⅡB T2N1M) in our hospital in April 2014 for the first time,was treated with right breast excision,right axillary lymph node dissection,right axillary sentinel lymph node biopsy and right axillary fibrous tumor resection,4 courses of chemotherapy after operation and follow-up. The patient was diagnosed with left breast cancer ( StageⅣT2N2M1),was treated with left breast cancer palliative resection and chemotherapy after operation. This case of primary breast car-cinoma pathological types were both infiltrating ductal carcinoma;two breast carcinoma immunohistochemistry: Er (-) , PR (-) , HER-2( + +),HER2 over expression. The Ki-67 of primary right breast cancer was about 20%;and the Ki-67 of left breast canc-er later was about 70%. Conclusion Neurofibromatosis typeⅠconsolidation of bilateral metachronous primary breast cancer ca-ses are rare. Neurofibromatosis type Ⅰ increased risk of breast cancer. Molecular biological behavior of bilateral metachronous breast cancer on both sides of the primary lesion relevant,its relatively high degree of malignancy and poor prognosis.%目的：探讨神经纤维瘤病Ⅰ型合并双侧异时性原发性乳腺癌的临床特点和病理学特征，提高对此类疾病的诊疗水平。方法回顾我院1例神经纤维瘤病Ⅰ型合并双侧异时性原发性乳腺癌的临床资料，并复习相关文献，总结分析此类疾病的相关特征、治疗及预后。结果本例NF1患者2014年4月首次在我院诊断右乳腺癌(Ⅱb期T2N1M0)，行右乳切除术+右腋窝淋巴结清扫+右腋窝前哨淋巴结活检+右腋窝纤维瘤切除术，术后化疗4疗程，并随访。2015年12月发现并诊断左乳腺癌(Ⅳ期T2N2M1)，行左乳腺癌姑息性切除术，术后化疗。此例异时性原发性乳腺癌两次病理类型均为为浸润性导管癌；两次乳腺癌免疫组化：ER(-)、PR(-)、Her-2(++)，为HER2过表达型；首发右侧乳腺癌Ki-67约20%，后发左侧乳腺癌Ki-67约70%。结论神经纤维瘤病Ⅰ型合并双侧异时性原发性乳腺癌属罕见病例，神经纤维瘤病Ⅰ型增加乳腺癌的发病风险。双侧异时性原发性乳腺癌两侧病灶的分子生物学行为具有相关性，其恶性程度相对较高，预后较差。