Honegger Jürgen, Nasi-Kordhishti Isabella, Giese Sabrina
Klinik für Neurochirurgie, Universitätsklinikum Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Deutschland.
Nervenarzt. 2019 Jun;90(6):568-577. doi: 10.1007/s00115-019-0708-4.
Despite characteristic symptoms the diagnosis of clinically relevant pituitary adenomas is often delayed until an advanced stage due to the rarity of the disease. The typical clinical manifestations are presented in this review article. The recent discovery of the USP8 mutation in Cushing's disease and of X‑linked acrogigantism (X-LAG) syndrome in early onset gigantism were milestones in the search for the molecular etiology of pituitary adenomas. The triad of endocrinological, radiological and ophthalmological diagnostics are the main pillars for the diagnostic work-up of pituitary adenomas. The standard treatment modalities, which include surgery, medical treatment and irradiation, have been further developed and refined. For transsphenoidal excision of pituitary adenomas, microsurgery and endoscopy are two equivalent surgical techniques with relatively few complications. Surgery represents the first-line treatment of pituitary adenomas. Prolactinomas are an exception as the medical treatment with dopamine agonists is highly efficient. Nowadays, new medical treatment options are available for acromegaly and Cushing's disease and are used for second-line treatment. The alkylating chemotherapeutic agent temozolomide is used for the first-line chemotherapy of rare aggressively growing pituitary adenomas. Irradiation is indicated if surgical and medical treatment options are insufficiently successful. Stereotactic one-stage irradiation (radiosurgery) is especially suitable for well-demarcated invasive residual or recurrent adenomas in the cavernous sinus. A new development is hypofractionated radiosurgery for protection of structures at risk. Fractionated irradiation is necessary with large radiation volumes and for pituitary adenomas with a close proximity to the optic tract.
尽管存在特征性症状,但由于该病罕见,临床上相关垂体腺瘤的诊断往往延迟到晚期。本文综述了典型的临床表现。库欣病中USP8突变的最新发现以及早发性巨人症中X连锁肢端肥大症(X-LAG)综合征的发现是垂体腺瘤分子病因学研究中的里程碑。内分泌、放射和眼科诊断三联征是垂体腺瘤诊断检查的主要支柱。包括手术、药物治疗和放疗在内的标准治疗方式已得到进一步发展和完善。对于垂体腺瘤的经蝶窦切除术,显微手术和内镜检查是两种等效的手术技术,并发症相对较少。手术是垂体腺瘤的一线治疗方法。泌乳素瘤是个例外,因为多巴胺激动剂药物治疗非常有效。如今,肢端肥大症和库欣病有了新的药物治疗选择,并用于二线治疗。烷化化疗药物替莫唑胺用于罕见的侵袭性生长垂体腺瘤的一线化疗。如果手术和药物治疗效果不佳,则需进行放疗。立体定向一期放疗(放射外科)特别适用于海绵窦内边界清晰的侵袭性残留或复发性腺瘤。一种新的进展是低分割放射外科,用于保护高危结构。对于大体积放疗区域以及靠近视束的垂体腺瘤,需要进行分割放疗。