经阴道超声引导下子宫内细针穿刺活检联合显微镜检查及 array-CGH 分析用于 MRI 检查提示子宫肌层肿瘤患者术前肉瘤诊断的前瞻性初步研究（SARCGYN）。

Percutaneous Uterine Needle Biopsy with Microscopic and Array-CGH Analyses for Preoperative Sarcoma Diagnosis in Patients with Suspicious Myometrial Tumors on MRI: A Prospective Pilot Study (SARCGYN).

机构信息

Department of Radiology, Institut Curie, Université Paris Sciences et Lettres, Paris, France.

Department of Pathology, Institut Curie, Université Paris Sciences et Lettres, Paris, France.

出版信息

Ann Surg Oncol. 2023 Feb;30(2):943-953. doi: 10.1245/s10434-022-12697-5. Epub 2022 Oct 26.

DOI:10.1245/s10434-022-12697-5

PMID:36287348

Abstract

BACKGROUND

Unlike for soft tissue sarcomas, percutaneous biopsy is not validated for uterine myometrial tumors, leading to leiomyosarcoma inadvertent morcellation and overtreatment in childbearing patients. This study aimed to evaluate preoperative percutaneous uterine needle biopsy (PUB) with microscopic examination (M-PUB) and array-comparative genomic hybridization (MCGH-PUB).

METHODS

This was a prospective single-center cohort study including all consecutive patients who were candidates for hysterectomy because of suspected uterine leiomyosarcoma on magnetic resonance imaging (MRI) who received PUB. Microscopic and array-CGH analyses with genomic index (GI) counts were performed to guide the therapeutic strategy. Smooth-muscle tumors with suspect features with a GI above 15 were deemed malignant, as were tumors without microscopic malignant features with a complex genomic profile (GI above 30 or malignant profile). Preoperative diagnoses based on M-PUB and MCGH-PUB were compared with the postsurgical pathological specimen or follow-up.

RESULTS

From November 2016 to February 2022, 34 patients were included. Based on the surgical specimen (N = 23) or follow-up (N = 11), final diagnoses were 11 sarcomas and 23 non-sarcomas. The median follow-up was 12 months (IQR 6-37). The diagnostic accuracies of M-PUB and MCGH-PUB were 94% and 100%, respectively. The sensitivity, specificity, and negative predictive value of MCGH-PUB were 100%, 100%, and 100%, respectively. A high GI was significantly associated with malignancy (P < 0.001). Genomic analyses allowed malignancy upgrades for four tumors. There were no complications and no dissemination along the biopsy track.

CONCLUSION

MCGH-PUB is safe and accurate for preoperatively diagnosing uterine sarcomas and should be used routinely after suspicious MRI to tailor surgery.

摘要

背景

与软组织肉瘤不同，经皮活检尚未在子宫平滑肌肿瘤中得到验证，这导致在有生育需求的患者中，无意间对平滑肌肉瘤进行了分割和过度治疗。本研究旨在评估术前经皮子宫针吸活检（PUB）结合显微镜检查（M-PUB）和比较基因组杂交微阵列（MCGH-PUB）的应用。

方法

这是一项前瞻性单中心队列研究，纳入了所有因磁共振成像（MRI）怀疑为子宫平滑肌肉瘤而接受 PUB 的连续患者。进行了显微镜和微阵列-CGH 分析，并计算基因组指数（GI）计数，以指导治疗策略。具有可疑特征且 GI 高于 15 的平滑肌肿瘤被认为是恶性的，而没有显微镜恶性特征但具有复杂基因组谱（GI 高于 30 或恶性谱）的肿瘤也是如此。基于 M-PUB 和 MCGH-PUB 的术前诊断与术后病理标本或随访结果进行比较。

结果

2016 年 11 月至 2022 年 2 月，共纳入 34 例患者。根据手术标本（N=23）或随访（N=11），最终诊断为 11 例肉瘤和 23 例非肉瘤。中位随访时间为 12 个月（IQR 6-37）。M-PUB 和 MCGH-PUB 的诊断准确率分别为 94%和 100%。MCGH-PUB 的灵敏度、特异性和阴性预测值分别为 100%、100%和 100%。高 GI 与恶性肿瘤显著相关（P<0.001）。基因组分析使 4 例肿瘤的恶性程度升级。无并发症，活检通道无播散。