Department of Medicine, Section of Hematology-Oncology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73126, USA.
Anticancer Res. 2010 Nov;30(11):4731-6.
Phyllodes tumors (PTs) represent uncommon fibroepithelial lesions of the breast that express c-Kit and platelet-derived growth factor receptor-alpha, similar to gastrointestinal stromal tumors (GISTs). 'Activating' mutations in these genes underlie responsiveness of GISTs to imatinib. Standard treatment for breast PTs is wide local excision, with no role for targeted therapies.
c-Kit (CD117) expression was investigated by immunohistochemistry in 17 cases of breast PTs. Fourteen of these cases were also subjected to KIT mutation analysis by dideoxynucleotide sequencing.
Five out of 17 (29%) tumors showed weak stromal staining for CD117. No previously described 'activating' mutations were found in exons 9, 11, 13, or 17 of the KIT gene. A silent germline point mutation was found in exon 17 of one case.
These data do not suggest a pathogenetic role for KIT in breast PTs. Inhibition of c-Kit signaling is unlikely to be helpful in this condition.
叶状肿瘤（PTs）是一种罕见的乳腺纤维上皮性病变，其表达 c-Kit 和血小板衍生生长因子受体-α，与胃肠道间质瘤（GISTs）相似。这些基因的“激活”突变是 GISTs 对伊马替尼敏感的基础。PTs 的标准治疗是广泛局部切除，不需要靶向治疗。
通过免疫组织化学方法检测了 17 例乳腺 PTs 中的 c-Kit（CD117）表达。其中 14 例还进行了 KIT 突变分析的双脱氧核苷酸测序。
17 例肿瘤中有 5 例显示出 CD117 染色较弱的间质。在 KIT 基因的外显子 9、11、13 或 17 中未发现先前描述的“激活”突变。一例病例在外显子 17 中发现了一个沉默的种系点突变。
这些数据表明 KIT 在乳腺 PTs 中没有致病作用。抑制 c-Kit 信号传导不太可能对这种情况有帮助。
