伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病的临床、影像和病理学一例分析

目的探讨伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)的临床特点、影像和病理学特征,提高对CADASIL的认识。方法对一例CADASIL患者的临床表现、影像学表现及皮肤活检进行总结。结果患者妊娠晚期发病,表现为反复的缺血性卒中发作,头颅MRI见皮质下梗死和白质脑病的改变,皮肤活检提示微小动脉的平滑肌细胞表面出现颗粒样嗜锇物质(GOM)。结论有阳性家族史,无常见脑血管病危险因素且发病年龄较早的缺血性脑血管病患者要考虑到CADASIL的可能,同时妊娠可能会对促进本病的发展有一定的影响。     

Prevalence of Granular Corneal Dystrophy Type 2 (Avellino Corneal Dystrophy) in the Korean Population

Purpose: This study investigates the prevalence of granular corneal dystrophy type 2 (GCD2; Avellino corneal dystrophy) in the Korean population.

Methods: GCD2 homozygotes were identified through a collaboration of Korean referral centers for corneal disease. The genetic status of the patients and their immediate families were verified by DNA analysis. A lower bound for the gene prevalence was calculated using a model based on the Hardy-Weinberg principle. A second population-based model was developed to correct for known underestimation in the primary model. The corrected model used population data from the 2005 Korean census and fertility rates from historical Korean census data.

Results: We identified 21 individuals homozygous for GCD2 (R124H mutation) from 16 Korean families. From this, we estimate that the overall prevalence (combining heterozygotes and homozygotes) is at least 8.25 affected persons/10,000 persons. Our corrected estimate for overall prevalence is 11.5 affected persons/10,000 persons.

Conclusion: We present the first estimate of the prevalence of GCD2. Although uncommon, the prevalence of GCD2 in Korea is greater than anticipated. We believe that our approach could potentially be applied to estimating the prevalence of other rare diseases.     

Brachial Plexus Tumors in a Consecutive Series of Twenty One Patients

Objective

This is a retrospective review of 22 surgically treated benign and malignant tumors of brachial plexus region to describe clinical presentation, the characteristics of brachial plexus tumor and clinical outcomes with a literature review.

Methods

Twenty-one patients with consecutive 22 surgeries for primary brachial plexus tumors were enrolled between February 2002 and November 2011 were included in this study. The medical records of all patients were reviewed.

Results

Eleven male and 10 female patients were enrolled. Mean age was 39 years. Three patients had brachial plexus tumor associated with neurofibromatosis (13.6%). Presenting signs and symptoms included parenthesis and numbness (54.5%), radiating pain (22.7%), direct tenderness and pain (27.2%), palpable mass (77.3%). Twelve patients presented preoperative sensory deficit (54.5%) and 9 patients presented preoperative motor deficit (40.9%). Twenty tumors (90.9%) were benign and 2 tumors (9.1%) were malignant. Benign tumors included 15 schwannomas (68.2%), 4 neurofibromas (18.2%) and 1 granular cell tumor (4.5%). There were 1 malignant peripheral nerve sheath tumor (MPNST) and 1 malignant granular cell tumor. Gross total resection was achieved in 16 patients (72.7%), including all schwannomas, 1 neurofibroma. Subtotal resection was performed in 6 tumors (27.3%), including 3 neurofibromatosis associated with brachial plexus neurofibromas, 1 MPNST and 2 granular cell tumor in one patient.

Conclusion

Resection of tumor is the choice of tumor in the most of benign and malignant brachial plexus tumors. Postoperative outcomes are related to grade of resection at surgery and pathological features of tumor.     

Intramedullary astrocytoma with granular cell differentiation

Granular cell astrocytomas are uncommon tumors of the central nervous system (CNS) of which no cases have been documented in the spinal cord. This variant of glioma should not be confused with benign granular cell tumor which, although rare, has been well characterized in the spinal cord. We describe here the clinical, pathological, and radiological features of such an astrocytoma arising within the spinal cord at the dorsal level. A 48-year-old female was seen after about 1 year of dorsal pain and gradual spastic paraparesis. Magnetic resonance imaging (MRI) studies showed a 2-cm contrast-enhanced mass in the spinal cord at T6-T7, which had the appearance of an astrocytoma. At surgery, the tumor was found to be infiltrating a posterior column with no dural attachment. It was debulked and dissected. The histological diagnosis was astrocytoma with granular cell differentiation. In addition to documenting a unique example of intramedullary granular cell astrocytoma, we review the literature to investigate differences from other tumors with granular changes described in the spinal cord.     

WT-1蛋白在卵巢颗粒细胞瘤和卵泡膜细胞瘤中的表达及意义

目的探讨WT-1蛋白在卵巢颗粒细胞瘤和卵泡膜细胞瘤中的表达及意义。方法用免疫组织化学方法研究WT-1蛋白在37例卵巢颗粒细胞瘤(GCT)和39例卵泡膜细胞瘤(TCT)及10份健康卵巢组织中的表达。结果在卵巢GCT和TCT组织中,WT-1蛋白的表达明显高于其在正常组织中的表达。且高、中分化组与低分化组之间,Ⅰ期、Ⅱ期与Ⅲ期之间的差异均有统计学意义(P<0.05),即随组织学分级与临床分期提高而降低。WT-1蛋白阳性表达的病例10年生存率高于阴性表达者,差异有统计学意义(P<0.05)。结论WT-1蛋白有望作为卵巢GCT和TCT的辅助标记物和影响预后的一个因素,能为病理诊断和判定预后提供一定的指导作用。     

妊娠合并卵巢幼年型颗粒细胞瘤一例报告及文献复习

目的：分析妊娠合并卵巢幼年型颗粒细胞瘤（juvenile granulosa cell tumor,JGCT）的临床特点、诊断要点、治疗及预后,提高鉴别诊断水平。方法：回顾性分析 1 例妊娠合并JGCT病例资料,复习相关文献。结果：患者27岁,因停经39+3周,间断右下腹疼痛3 d入院。彩色超声提示右下腹部一8.5 cm×6.1 cm囊实混合回声。查糖类癌抗原125（CA125） 32.3 U/mL, CA19-9为19.1 U/mL,诊断为先兆临产,盆腔包块（性质待排）,行剖宫产术+剖腹探查术,探查见右侧卵巢一囊性肿物,已破溃,行右侧卵巢肿物切除术,术后病理诊断为卵巢JGCT。行二次手术,给予右侧卵巢输卵管切除术+左侧卵巢活检术+盆腔淋巴结取样术+部分大网膜切除术+阑尾切除术+盆腔粘连松解术。术后予顺铂+长春新碱+博莱霉素（PVB方案）化疗3个疗程,随访8个月,肿瘤无复发。结论：JGCT是一种罕见的恶性肿瘤,发生于妊娠期者更为罕见,确诊需依赖病理及免疫组化检查。     

Malignant granular cell tumor of the multifidus muscle: Case report and review of the literature

Granular cell tumors (GCTs) are uncommon soft tissue tumors characterized by cytoplasmic granular appearance of the neoplastic cells. Malignant GCTs comprise less than 2% of GCTs and are mostly found in the subcutaneous soft tissues of the lower extremities, especially the thighs. This report presents a case of malignant granular cell tumor in the right multifidus muscle. A 69-year-old woman presented to the surgeon with a 3 month history of light pain in the lumbar area and hip joint, with no particular history. CT and MRI revealed a soft tissue tumor with a maximum diameter of 7.5 cm. There is patchy unenhanced hypointense shadow in the mass. Widely excision was performed for the primary tumor, which was interpreted as an malignant GCTs. GCTs should be considered in the differential diagnosis in a rapidly growing intramuscular tumors. We investigated the CT and MRI findings of malignant granular cell tumor.     

Atypical esophageal granular cell tumor: Case report

Esophageal granular cell tumors (GCTs), or also called Abrikossoff''s tumor are rare benign tumors originating from Schwann cells most commonly found in the skin, subcutaneous tissue, and tongue. Approximately 5% –8% arise in the gastrointestinal tract, and one-third of these tumors arise in the esophagus [1]. This neoplasm has a benign behavior usually, but there have been described a malignant transformation in 2% –3% of the cases. Herein, we discuss a case of a 70-year-old male patient with no pathological background, admitted for dysphagia evolving in 3 months that was explored with endoscopy and CT, the diagnosis at this level was challenging but the histopathology and Immunohistochemistry confirmed the presence of granular cells thus confirm the diagnosis.The purpose of our work is to report the uncommon evolution of an Abrikossoff ‘s tumor located in the esophagus, as a warning of the possible malignant transformation of this tumor mostly benign; also we made a review of the literature.