Clinical characteristics and prognosis of primary gastrointestinal stromal tumors with PDGFRα mutation / 中华普通外科杂志

ABSTRACT

Objective:To investigate the clinicopathological characteristics of primary gastrointestinal stromal tumors (GIST) with PDGFRα mutation and analyze the prognosis of different subtypes.Methods:From Jun 2010 to Jun 2019, the clinicopathological data of 35 patients with primary PDGFRα mutation GIST, who underwent surgical therapy in the Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, were analyzed retrospectively.Results:The main symptoms was abdominal pain (28 cases, 80%), followed by abdominal mass (6 cases, 17%), and hemafecia (1 case, 3%). 31 primary lesions (89%) were located in the stomach and 4 (11%) in other than stomach. 13 cases (37%) were of epithelioid cells, 14 cases (40%) were of spindle cells and 8 cases (23%) were of mixed cells. 27 cases (77%) were CD117 positive , 28 cases (80%) CD34 positive , and 30 cases (86%) were DOG-1 positive. 19 cases (54%) had D842V mutation and 16 cases (46%) had non-D842V mutation. Complete surgical resection was performed in all patients, with no perioperative death. The 3-year recurrence-free survival rate of the D842V mutation group was lower than that of the non-D842V mutation group (84% vs. 100%, P=0.045). Conclusions:The mutation rate of PDGFRα gene was low, mostly derived from the stomach. PDGFRα mutation GIST presents inert biological behavior and the overall prognosis was good.