Molecular biology of testicular germ cell tumors: Unique features awaiting clinical application

Testicular germ cell tumors (TGCTs) are the most common solid tumors in young adult men characterized by distinct biologic features and clinical behavior. Both genetic predispositions and environmental factors probably play a substantial role in their etiology. TGTCs arise from a malignant transformation of primordial germ cells in a process that starts prenatally, is often associated with a certain degree of gonadal dysgenesis, and involves the acquirement of several specific aberrations, including activation of SCF–CKIT, amplification of 12p with up-regulation of stem cell genes, and subsequent genetic and epigenetic alterations. Their embryonic and germ origin determines the unique sensitivity of TGCTs to platinum-based chemotherapy. Contrary to the vast majority of other malignancies, no molecular prognostic/predictive factors nor targeted therapy is available for patients with these tumors. This review summarizes the principal molecular characteristics of TGCTs that could represent a potential basis for development of novel diagnostic and treatment approaches.     

Hoxa-11 maintains cell proliferation in the mouse gubernaculum to facilitate testicular descent

Introduction

The gubernaculum is a structure vital for guiding testicular descent. The Homeobox gene, Hoxa-11, is involved in patterning embryonic structures and is necessary for gubernacular development, as Hoxa-11 knock-out mice exhibit abnormal gubernacula and undescended testes. We aimed to elucidate how testicular descent fails by examining cell proliferation and androgen receptor (AR) expression in Hoxa-11 KO mice gubernacula.

Methods

Postnatal day 2 wild type (n = 6) and Hoxa-11 KO mice (n = 6), were prepared for immunohistochemistry and confocal microscopy using antibodies against androgen receptor, slow skeletal myosin (My32), and Ki67, a marker of cell proliferation.

Results

The gubernacula of Hoxa-11 KO mice were hypocellular compared with WT. AR was present in the gubernaculum and abutting inguinal fat pad in both WT and Hoxa-11 KO with no difference in expression. Slow skeletal myosin was present in a clear ‘swirl’ in the growth centre of WT animals which was absent in the Hoxa-11 KO mice. Ki67, expressed in the growth centre and cremaster muscle in WT, was greatly decreased in Hoxa-11 KO.

Conclusion

Hoxa-11 may regulate fibroblast proliferation in the gubernaculum, as it does in human uterosacral ligaments, allowing formation of the 'growth centre' within the bulb and facilitating myogenesis and elongation to the scrotum. Polymorphisms in Hoxa-11 may contribute to the aetiology of human cryptorchidism.     

Ovarian torsion in children: Management and outcomes

Background

The purpose of this study is to evaluate the clinical symptoms, diagnosis, management, and outcomes in children with ovarian torsion.

Methods

The charts of 50 patients with 53 cases of ovarian torsion treated between January 1989 and March 2012 were reviewed retrospectively. Long term follow up was available for 20 girls who had their ovaries left in the abdominal cavity after detorsion.

Results

In 22 cases ovaries were removed, and in 31 cases the torsion was relieved and the ovaries left in the abdominal cavity. Twenty-five of the salvaged ovaries were black-bluish and 10 bluish in color. Since 2005, after a change in preferred treatment, all ovaries treated by detorsion were left in the abdominal cavity. The long term results were observed clinically and by ultrasound in 20 girls. Multifollicular ovaries were found in 17 girls. One girl had a normal size paucifollicular ovary, a one-year-old girl had a normal size ovary with microfollicles, and one girl had no ovarian material detectable by ultrasound.

Conclusions

Long term analysis of the treatment of ovarian torsion revealed that ovaries treated by detorsion and left in the abdominal cavity preserved their normal anatomy and function. Conservative surgical treatment proved to be safe. None of the girls had thromboembolism or peritonitis, and no malignant tumors were found in the operated ovaries.     

斑点追踪技术评价左室扭转及解旋运动的临床应用

近几年,斑点追踪技术在国内已初步应用于临床,且取得了一定的成果,如评价心功能、心脏再同步化治疗及起搏治疗前后指导以及冠心病、心肌病、瓣膜性心脏病等疾病的诊断与治疗效果。本文从上述几方面做一综述,以促进其在临床工作中的进一步应用及发展。     

超声诊断睾丸微石症与睾丸相关疾病的关系研究

目的探讨睾丸微石症(testicular microlithiasis,TM)与睾丸相关疾病的关系。方法回顾性分析6 622例有阴囊症状、经阴囊超声检查发现睾丸微石症(TM)患者的临床资料。结果检出率为3.35%,其中双侧为多,占比为89.1%,TM组与非TM组中睾丸附睾炎的发生率分别为13.45%,14.09%,2组比较P为0.82,x2为0.051,隐睾发生率分别为2.70%,2.37%,2组比较P为0.753,x2为0.098,差异无统计学意义;TM组与非TM组精索静脉曲张发生率分别为49.5%,40.21%,2组比较P为0.0053,x2为7.75,2组差异有统计学意义。结论睾丸微石症发生率不低,其为常见病,其与睾丸附睾炎、隐睾无明确相关关系,而与精索静脉曲张明显相关,超声检查是睾丸微石症确诊和随访的主要工具。     

Vasculite testicular – uma manifestação rara de artrite reumatoide

Testicular vasculitis is a very rare extra-articular manifestation of rheumatoid arthritis (RA). We describe the case of a 53-year-old man diagnosed with RA for eight years, who was poorly controlled and developed rheumatoid vasculitis, which manifested as leg ulcers and peripheral polyneuropathy. The patient also had acute neutrophilic meningitis and was treated with antibiotics and intravenous pulse therapy with methylprednisolone (500 mg daily) for three days, followed by oral cyclophosphamide (2 mg/kg daily) and prednisone. Overall improvement was observed, and the patient was discharged. But 15 days later, the meningitis recurred, and the patient was readmitted and treated again with antibiotics. Three days later, he developed pain and enlargement of his left testicle with gangrene. Unilateral orchiectomy was performed, revealing lymphocytic vasculitis. The patient died two days later due to aspiration pneumonia. This case illustrates a rare and severe manifestation of rheumatoid vasculitis.     

超声诊断睾丸及附睾结核1例

患者男,49岁.以"右睾丸及附睾肿物"入我院治疗.超声检查:右侧睾丸内可见弥漫性呈点片状低回声团,不规则(图1),睾丸内见有丰富的彩色血流.右侧附睾明显增大,头体部5.0 cm×2.6 cm,尾部3.0 cm×1.6 cm,呈低回声,其内可见有较丰富的彩色血流.右侧睾丸鞘膜内可显示4.9 cm×3.6 cm的液性暗区,有分隔.右腹股沟区可显示多数个低回声团,最大的1.6 cm×0.7 cm.超声诊断:①右侧睾丸内低回声团性质待定,占位性病变待除外;②右侧附睾炎性改变伴鞘膜积液;③右侧腹股沟淋巴结增大.术后病理:右侧睾丸及附睾结核.