Amer Myriam, Vaccalluzzo Liborio, Vena Walter, Mazziotti Gherardo, Morenghi Emanuela, Pizzocaro Alessandro
Endocrinology, Diabetology and Andrology Unit, IRCCS Humanitas Clinical and Research Center, Rozzano, Milan, Italy.
Endocrinology, Diabetology and Andrology Unit, IRCCS Humanitas Clinical and Research Center, Rozzano, Milan, Italy -
Minerva Endocrinol (Torino). 2023 Mar;48(1):106-114. doi: 10.23736/S2724-6507.21.03440-0. Epub 2021 May 20.
Epidemiological studies have highlighted a higher incidence of morbidity and mortality among individuals with Klinefelter's Syndrome (KS), however, the relative impact of oncological diseases on KS subjects is still uncertain. While some malignancies (e.g., hematological and lung cancers) may show an increased prevalence in the KS population, only a few rare tumors (i.e., extragonadal germ cell tumors [GCTs] and male breast cancer [MBC]) seem to follow this trend. Additionally, hormonal and genetic determinants may be involved in the pathogenesis of neoplasia in KS, even if subjects affected by this syndrome generally show lower incidence of prostate cancer along with lower disease-specific mortality despite testosterone replacement therapy (TRT). This review deals with the pathophysiological and clinical aspects of neoplastic diseases occurring in KS.
流行病学研究强调了克氏综合征（KS）患者中发病率和死亡率较高，然而，肿瘤疾病对KS患者的相对影响仍不确定。虽然一些恶性肿瘤（如血液系统和肺癌）在KS人群中的患病率可能会增加，但只有少数罕见肿瘤（即性腺外生殖细胞肿瘤[GCTs]和男性乳腺癌[MBC]）似乎遵循这一趋势。此外，激素和遗传因素可能参与了KS肿瘤的发病机制，尽管接受睾酮替代疗法（TRT），但受该综合征影响的患者通常前列腺癌发病率较低，疾病特异性死亡率也较低。本综述探讨了KS患者发生肿瘤性疾病的病理生理和临床方面。
