Desmousseaux Thomas, Arama Emmanuel, Maxwell Florian, Ferlicot Sophie, Hani Chahinez, Fizazi Karim, Lebacle Cédric, Loriot Yohann, Boumerzoug Meriem, Cohen Julian, Garrouche Nada, Rocher Laurence
Service de Radiologie, APHP Hôpitaux Paris Saclay, Hôpital Antoine Béclère, 157 Rue de la Porte de Trivaux, 92140 Clamart, France.
Service de Radiologie, APHP Hôpitaux Paris Saclay, Hôpital Bicêtre, 78 Avenue du Général Leclerc, 94270 Le Kremlin-Bicêtre, France.
Cancers (Basel). 2022 Aug 19;14(16):4013. doi: 10.3390/cancers14164013.
The spontaneous regression of testicular germ-cell tumours is a rare event whose mechanisms have yet to be elucidated. In the majority of published cases, tumour regression is concomitant with the metastatic development of the disease. Residual lesions, often referred to as burned-out testicular tumours (BOTTs), are difficult to diagnose due to the paucity of published data, especially in the field of imaging. The aim of this article is to describe the radiological signs of BOTTs on multimodal ultrasound and multiparametric MRI from a series of 48 patients whose diagnosis was confirmed histologically. The demographic, clinical and laboratory characteristics of the patients are studied, as well as the data of the imaging examinations, including conventional scrotal ultrasound, shear-wave elastography, contrast-enhanced ultrasound (CEUS) and multiparametric MRI. A total of 27 out of 48 patients were referred for investigation of primary testicular lesion following the discovery of retroperitoneal metastases, 18/48 patients were referred because of lesions suspected on an ultrasound that was performed for an infertility work-up, and 3/48 were referred because of scrotal clinical signs. Of these last 21 patients (infertility work-up/scrotal clinical sign), 6 were found to be metastatic on the extension work-up. Of the 48 orchiectomy specimens, tumour involution was complete in 41 cases, and a small active contingent remained in 7 cases, with 6 suspected upon advanced US and MRI. Typically, BOTTs appear on a conventional ultrasound as ill-delineated, hypoechoic and hypovascular nodular areas. Clustered microliths (60.4%) and macrocalcifications (35.4%) were frequent. Shear-wave elastography showed areas of focal induration (13.5 ± 8.4 vs. 2.7 ± 1.2 kPa for normal parenchyma, p < 0.01) in 92.5% of the patients for whom it was performed, and contrast ultrasonography demonstrated hypoperfusion of these lesions. Of the 42 MRIs performed, BOTTs corresponded to nodules on T2-weighted sequences (hyposignal) with significantly increased ADC values compared with healthy parenchyma (2 ± 0.3 versus 1.3 ± 0.3 × 10−3 mm2/s, p < 0.01) and an enhancement defect after injection. This enhancement defect overlapped the lesions visible on T2-weighted sequences in most cases. In the case of predominant partial regression, an enhanced portion after contrast injection was visible on MRI in all seven patients of our series, and in six of them a focal diffusion restriction zone was also present. Spontaneously involuted testicular germ-cell tumours have specific radiological signs, and all of the mentioned examinations contribute to this difficult diagnosis, even histologically, because there is no tumour cell left. These signs are similar whether the patient is initially symptomatic metastatic or whether the discovery is fortuitous on the occasion of an infertility work-up, and whatever the seminomatous or non-seminomatous nature of the germ-cell tumour, when this can be determined. The appearance of regressed germ-cell tumours is often trivialized, which can lead to the wrong diagnosis of an extra gonadal germ-cell tumour (in metastatic patients) or of scarring from an acute event such as trauma or infection, which is not recognized or forgotten. In our series, two patients had an unrecognized diagnosis in their history, with local and/or distant recurrence. An improvement in diagnosing burned-out tumours, combining advanced US and MRI, is necessary in order to optimize patient management, with special attention paid to asymptomatic patients, to prompt extension screening and orchiectomy with analysis of the whole testis. This may reveal a persistent viable tumour or lesions of germinal neoplasia in situ, which are precursors of testicular germ-cell tumours.
睾丸生殖细胞肿瘤的自发消退是一种罕见事件,其机制尚未阐明。在大多数已发表的病例中,肿瘤消退与疾病的转移发展同时发生。残留病变,通常称为消退型睾丸肿瘤(BOTTs),由于公开数据匮乏,尤其是在影像学领域,很难诊断。本文旨在描述48例经组织学确诊患者的BOTTs在多模态超声和多参数MRI上的影像学表现。研究了患者的人口统计学、临床和实验室特征,以及影像学检查数据,包括传统阴囊超声、剪切波弹性成像、超声造影(CEUS)和多参数MRI。48例患者中,27例因发现腹膜后转移而转诊以调查原发性睾丸病变,18/48例患者因不育检查时超声怀疑有病变而转诊,3/48例因阴囊临床体征而转诊。在最后这21例患者(不育检查/阴囊临床体征)中,6例在进一步检查时发现有转移。在48例睾丸切除标本中,41例肿瘤完全消退,7例仍有少量活跃成分,其中6例在超声和MRI检查时怀疑有残留。典型情况下,BOTTs在传统超声上表现为边界不清、低回声和低血供的结节状区域。簇状微石(60.4%)和大钙化(35.4%)很常见。剪切波弹性成像显示,在接受检查的92.5%患者中存在局灶性硬结区域(13.5±8.4 kPa,而正常实质为2.7±1.2 kPa,p<0.01),超声造影显示这些病变灌注不足。在42例MRI检查中,BOTTs在T2加权序列上表现为结节(低信号),与健康实质相比,表观扩散系数(ADC)值显著增加(2±0.3对1.3±0.3×10−3 mm2/s,p<0.01),注射后有强化缺损。在大多数情况下,这种强化缺损与T2加权序列上可见的病变重叠。在主要为部分消退的情况下,在我们系列的所有7例患者中,MRI上注射造影剂后可见强化部分,其中6例还存在局灶性扩散受限区域。自发消退型睾丸生殖细胞肿瘤有特定的影像学表现,所有上述检查都有助于这一困难的诊断,即使是组织学诊断,因为已无肿瘤细胞残留。无论患者最初是有症状的转移患者,还是在不育检查时偶然发现,以及无论生殖细胞肿瘤是精原细胞瘤还是非精原细胞瘤(如果可以确定),这些表现都是相似的。消退型生殖细胞肿瘤的表现常常被忽视,这可能导致对性腺外生殖细胞肿瘤(转移患者)或急性事件(如创伤或感染)后的瘢痕形成误诊,而未被识别或遗忘。在我们的系列中,有2例患者既往诊断未被识别,出现了局部和/或远处复发。为了优化患者管理,有必要结合先进的超声和MRI改善对消退型肿瘤的诊断,特别关注无症状患者,及时进行转移筛查和睾丸切除并对整个睾丸进行分析。这可能会发现持续存在的存活肿瘤或原位生精细胞瘤病变,它们是睾丸生殖细胞肿瘤的前体。