Pedeutour F, Quade B J, Weremowicz S, Dal Cin P, Ali S, Morton C C
Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, and Harvard Medical School, Boston, Massachusetts 02115, USA.
Genes Chromosomes Cancer. 1998 Dec;23(4):361-6. doi: 10.1002/(sici)1098-2264(199812)23:4<361::aid-gcc12>3.0.co;2-4.
Estrogens have an important function in the natural history of uterine leiomyomata. The human estrogen receptor beta gene (ESR2) has been identified recently and mapped to 14q22-24, a region frequently rearranged in uterine leiomyomata and other benign tumors, including pulmonary chondroid hamartomas and endometrial polyps. Using fluorescence in situ hybridization and radiation hybrid mapping, we map ESR2 within 14q23-24.1, to a region approximately 2 Mb centromeric to the t(12;14) breakpoint in uterine leiomyomata, between markers D14S63 and WI-7536. Two YAC clones, 948B6 and 741H4, contain ESR2. Using RT-PCR, we show that ESR2 is expressed in uterine leiomyomata and pulmonary chondroid hamartomas as well as in normal myometrium. Lack of a direct relationship between rearrangement of 14q23-24 and ESR2 expression suggests that ESR2 is not involved with HMGIC or HMGIY in t(12;14) or t(6;14). However, because of its relatively close physical distance from the characteristic site of rearrangements in 14q23-24, a role for ESR2 in the pathobiology of these tumors warrants future consideration.
雌激素在子宫平滑肌瘤的自然病程中具有重要作用。人类雌激素受体β基因（ESR2）最近已被鉴定，并定位于14q22 - 24，该区域在子宫平滑肌瘤及其他良性肿瘤（包括肺软骨样错构瘤和子宫内膜息肉）中经常发生重排。利用荧光原位杂交和辐射杂种图谱技术，我们将ESR2定位于14q23 - 24.1内，位于子宫平滑肌瘤中t(12;14)断点着丝粒侧约2 Mb处，在标记D14S63和WI - 7536之间。两个酵母人工染色体（YAC）克隆948B6和741H4包含ESR2。通过逆转录聚合酶链反应（RT - PCR），我们发现ESR2在子宫平滑肌瘤、肺软骨样错构瘤以及正常子宫肌层中均有表达。14q23 - 24重排与ESR2表达之间缺乏直接关联，这表明在t(12;14)或t(6;14)中ESR2不参与HMGIC或HMGIY。然而，由于其与14q23 - 24重排特征位点的物理距离相对较近，ESR2在这些肿瘤病理生物学中的作用值得未来进一步研究。
