Yüksel Hasan, Zafer Emre
Aydın Adnan Menderes University Faculty of Medicine, Department of Obstetrics and Gynecology, Division of Gynecological Oncology, Aydın, Turkey.
Aydın Adnan Menderes University Faculty of Medicine, Department of Obstetrics and Gynecology, Specialty in Medical Genetics, Aydın, Turkey.
Turk J Obstet Gynecol. 2021 Mar 12;18(1):65-67. doi: 10.4274/tjod.galenos.2021.53050.
Immune system vulnerability seems to play a significant role in the development and malignant transformation of pre-malignant squamous cell lesions. Emberger syndrome is a condition that affects the immune system, which is caused by GATA2 gene mutations. Our objective was to present the gynecologic expressions of this rare syndrome in our case. Here, we discussed a relatively young patient with findings related to Emberger syndrome such as recurrent infections, myelodysplastic syndrome, lower extremity edema, and multifocal, multicentric premalignant/malignant genital lesions. Sequencing of the GATA2 gene was accomplished for suspected Emberger syndrome and a point mutation in intron5, c1143+8C >T was detected. Gynecologists may play an important role in the early detection of Emberger syndrome and guiding multidisciplinary treatment options as the initial signs related to this rare entity can appear on the genitalia.
免疫系统脆弱性似乎在癌前鳞状细胞病变的发展和恶性转化中起重要作用。恩伯格综合征是一种影响免疫系统的疾病，由GATA2基因突变引起。我们的目的是在我们的病例中呈现这种罕见综合征的妇科表现。在此，我们讨论了一名相对年轻的患者，其具有与恩伯格综合征相关的表现，如反复感染、骨髓增生异常综合征、下肢水肿以及多灶性、多中心性癌前/恶性生殖器病变。对疑似恩伯格综合征的患者进行了GATA2基因测序，检测到内含子5中的一个点突变，即c1143+8C>T。由于与这种罕见疾病相关的初始体征可能出现在生殖器上，妇科医生在恩伯格综合征的早期检测以及指导多学科治疗方案方面可能发挥重要作用。
