三阴性确切谱系垂体神经内分泌肿瘤12例临床病理分析

Pituitary neuroendocrine tumors with triple-negative definite lineage:a clinicopathological analysis of 12 cases

目的探讨三阴性确切谱系垂体神经内分泌肿瘤(PitNETs)的病理学特点及临床意义。方法收集中国科学技术大学附属第一医院2019至2023年诊断的垂体三阴性确切谱系PitNETs12例,整理临床及病理学资料。结果12例中男性6例,女性6例,平均年龄52.2岁。3例为复发性PitNETs,4例表现为头痛、视力下降,5例因体检发现。磁共振增强显示不均匀强化,直径1.5~4.2 cm。7例为SF1谱系,4例为TPIT谱系、1例为PIT1谱系。免疫组化显示12例SF1、TPIT和PIT1均阴性;7例SF1谱系中GATA-3均阳性,3例ER部分阳性,7例LH、FSH均阳性;4例TPIT谱系中1例GATA-3阳性,ER均阴性,ACTH均阳性;1例PIT1谱系中GATA-3阴性,ER阴性,PRL阳性。结论垂体三阴性确切谱系PitNETs是一类罕见的PitNETs,临床表现为具有侵袭性的大腺瘤或巨大腺瘤,易复发,预后相对较差,需要密切随访。病理学特点主要表现为转录因子SF1、TPIT和PIT1均阴性,但该谱系的激素阳性,以SF1谱系激素LH、FSH为主,易被误诊为零细胞肿瘤,需进行鉴别诊断。正确识别该类型肿瘤,对于PitNETs的精准分类及临床诊疗有重要的意义。

Objective To explore pathological features and the clinical significance of triple-negative pituitary neuroendocrine tumors(PitNETs)with specific lineages.Methods We collected data from 12 cases of triple-negative PitNETs diagnosed at the First Affiliated Hospital of the USTC from October 2019 to October 2023.Clinical and pathological information was compiled for analysis.Results Among the 12 cases,there were 6 males and 6 females,with an average age of 52.2 years.Three cases were recurrent PitNETs,4 cases presented with headaches and visual impairment,and 5 cases were discovered during routine medical examinations.Magnetic resonance imaging revealed irregularly enhanced lesions with diameters ranging from 1.5 to 4.2 cm.Pathological diagnoses included 7 cases of SF1 lineage,4 cases of TPIT lineage,and 1 case of PIT1 lineage PitNETs.Immunohistochemistry showed negative expression for SF1,TPIT,and PIT1 in all 12 cases.Among the SF1 lineage cases,7 were positive for GATA-3,3 were partially positive for ER,and all 7 were positive for LH and FSH.In the TPIT lineage cases,1 was positive for GATA-3,all were negative for ER,and all were positive for ACTH.In the PIT1 lineage case,GATA-3 was negative,ER was negative,and PRL was positive.Conclusions Triple-negative Pit-NETs with specific lineages are a rare subtype,The clinical manifestations are invasive macroadenomas or giant adenomas,which are prone to recurrence and have a relatively poor prognosis,requiring close follow-up.These tumors are characterized by the absence of transcription factors SF1,TPIT,and PIT1,while exhibiting hormone positivity.The SF1 lineage hormones LH and FSH are mainly misdiagnosed as zero-cell tumors,and differential diagnosis is needed.The correct identification of this type of tumor is of great significance for the accurate classification and clinical diagnosis and treatment of PitNETs.