卵巢成人颗粒细胞瘤中的新型 FOXL2 基因突变:病例报告及诊断和临床病理学意义。

IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY International Journal of Gynecological Pathology Pub Date : 2024-11-01 Epub Date: 2024-02-19 DOI:10.1097/PGP.0000000000001024
Agnes Nagy, Na Niu, Elena Ratner, Pei Hui, Natalia Buza
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引用次数: 0

摘要

成人颗粒细胞瘤是最常见的恶性卵巢性索间质瘤,约 90% 至 95% 的病例携带 FOXL2 基因的特征性突变 c.402C>G (p.C134W)。迄今为止,尚未在这些肿瘤中发现其他变异的 FOXL2 基因突变。在此,我们报告了第一例成人颗粒细胞瘤病例,患者是一名 64 岁的绝经后妇女,她的 FOXL2 基因出现了 c.398C>T (p.A133V) 点突变。患者因非典型子宫内膜增生症接受了全子宫切除术和双侧输卵管切除术,大体检查发现右侧卵巢偶然出现一个 3.2 厘米的肿块,切面呈实性、亮黄色、均质。显微镜下,约 30% 的肿瘤呈巢状生长,由均匀的瘤细胞组成,瘤细胞核呈椭圆形,有适量淡色胞质,其余区域由平淡的浆液状纤维瘤基质组成。网状纤维素染色显示,巢状区域内的单个细胞周围网络消失,而背景基质成分中保留了细胞周围染色模式。对这两种成分都进行了FOXL2测序分析,发现巢状成分中存在c.398C>T(p.A133V)突变,而在纤维瘤基质中发现了野生型FOXL2序列。子宫切片显示为低级别子宫内膜样腺癌,伴有浅表子宫肌层浸润。患者接受了子宫内膜癌的阴道袖带近距离辅助治疗,随访 8 个月后仍健在。该病例说明,随着常规分子检测的日益普及,卵巢性索间质瘤中可能会检测到新的FOXL2突变,从而增加了病理诊断的复杂性。在正确的形态学和临床背景下,FOXL2突变--即使不同于显性热点突变c.402C>G (p.C134W)--可支持成人颗粒细胞瘤的诊断。
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Novel FOXL2 Mutation in an Ovarian Adult Granulosa Cell Tumor: Report of a Case With Diagnostic and Clinicopathologic Implications.

Adult granulosa cell tumor, the most common malignant ovarian sex cord-stromal tumor, harbors the characteristic mutation c.402C>G (p.C134W) in the FOXL2 gene in ~90% to 95% of cases. To date, no other variants of FOXL2 mutations have been identified in these tumors. Here we report the first case of an adult granulosa cell tumor with a novel FOXL2 point mutation c.398C>T (p.A133V) presenting in a 64-year-old postmenopausal woman. The patient underwent total hysterectomy and bilateral salpingo-oophorectomy for atypical endometrial hyperplasia and gross examination revealed an incidental 3.2 cm right ovarian mass with a solid, bright yellow, homogeneous cut surface. Microscopically, ~30% of the tumor showed a nested growth pattern composed of uniform tumor cells with oval nuclei and a moderate amount of pale cytoplasm, while the remaining areas consisted of a bland storiform fibromatous stroma. Reticulin stain demonstrated loss of the individual pericellular network within the nested areas, while the pericellular staining pattern was retained in the background stromal component. FOXL2 sequencing analysis was performed in both components and revealed a c.398C>T (p.A133V) mutation in the nested component, whereas wild-type FOXL2 sequence was identified in the fibromatous stroma. Sections from the uterus showed a low-grade endometrioid endometrial adenocarcinoma with superficial myometrial invasion. The patient underwent adjuvant vaginal cuff brachytherapy for the endometrial carcinoma and is alive and well at 8 months follow-up. This case illustrates that new FOXL2 mutations may be detected in ovarian sex cord-stromal tumors with increasing use of routine molecular testing, adding to the complexity of the pathologic diagnosis. In the right morphologic and clinical context, a FOXL2 mutation-even if it is different from the dominant hotspot mutation c.402C>G (p.C134W)-can support the diagnosis of adult granulosa cell tumor.

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来源期刊
CiteScore
3.90
自引率
12.50%
发文量
154
审稿时长
6-12 weeks
期刊介绍: International Journal of Gynecological Pathology is the official journal of the International Society of Gynecological Pathologists (ISGyP), and provides complete and timely coverage of advances in the understanding and management of gynecological disease. Emphasis is placed on investigations in the field of anatomic pathology. Articles devoted to experimental or animal pathology clearly relevant to an understanding of human disease are published, as are pathological and clinicopathological studies and individual case reports that offer new insights.
期刊最新文献
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