Case Report of Small Cell Carcinoma of the Ovary,Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and aggressive condition that is associated with the SMARCA4 mutation and has a dismal prognosis. It is generally diagnosed in young women. Here, we report a case of a young woman with SCCOHT harboring a rare molecular finding with a highly aggressive biological behavior. The patient had a somatic SMARCB1 mutation instead of an expected SMARCA4 alteration. Even though the patient was treated with high-dose chemotherapy followed by stem cell transplantation, she evolved with disease progression and died 11 months after her first symptoms appeared. We present a literature review of this rare disease and discuss the findings in the present patient in comparison to expected molecular alterations and options for SCCOHT treatment.     

小儿淋巴管瘤的MRI诊断

目的分析小儿淋巴管瘤的磁共振表现及其病理基础。方法对６例经手术病理证实的、年龄７天至７岁的小儿淋巴管瘤患者的磁共振表现进行回顾性分析。结果淋巴管瘤磁共振表现为Ｔ１ＷＩ上呈与肌肉相似或稍高的信号，Ｔ２ＷＩ上高于脂肪信号。５例瘤内可见低信号分隔，１例瘤内见血管流空影，３例见明显包膜，３例边界不清。２例病理诊断为海绵状淋巴管瘤，４例诊断为囊状淋巴管瘤。结论磁共振成像可较好地显示肿瘤的大小、形态及范围，从而指导手术治疗。     

Balo病同心圆硬化的MRI分析

目的：探讨Balo病同心圆硬化（BCS）的磁共振表现特征及其病理基础.方法：回顾性分析4例Balo病同心圆硬化患者的MRI表现,均经激素治疗临床症状好转后行MRI复查.结果：4例患者中,1例单发,3例多发,最多者病灶5个.病变主要累及大脑半球皮层下和深部白质区,共发现11个病灶,其中顶叶半卵圆中心和颞叶的发病比例高.典型同心圆样病灶8个,直径1～2.3cm,同心圆层数为3～5个.在T1WI加权像呈等、低信号相间;T2WI,FLAIR像上呈等、高信号交替环,病灶周围有轻度水肿表现,上述表现与镜下脱髓鞘区与髓鞘保留区相间相对应.其余3个不典型的病灶呈斑片状或煎蛋样改变;增强后1例病灶呈点状或边缘线状强化.结论：Balo病同心圆性硬化的MRI及其增强扫描具有特征性表现,可作为本病诊断的主要方法,并可用于疗效的观察.     

Subcutaneous zygomycosis: report of 10 cases from two institutions in North India

Background Subcutaneous zygomycosis is an uncommon condition observed in tropics. Few series have been published, particularly from the northern regions of India. Objectives The aim of this study was to describe clinical, investigative and therapeutic details in subcutaneous zygomycosis observed in two teaching hospitals in Delhi. Patients and methods Ten patients seen over a period of 10 years (1999–2009) form the material for this report. Results There were four children and six adults. In four children, the presentation was a subcutaneous localized mass or gradually spreading plaque. In the others, it was observed over nasal region of face, spreading inward into mucosal sites and paranasal sinuses, and outward to the contiguous areas. Regional lymphadenopathy was present in two with facial lesions. Majority showed a granulomatous infiltrate with admixture of other cells, mainly eosinophils. Aseptate or poorly septate hyphae were observed in seven. In one patient in whom no hyphae were observed, there was dense perivascular inflammation. Organisms were cultured from four patients, Basidiobolus ranarum in two and Syncephalastrum racemosum in two. The main therapy used was a saturated solution of potassium iodide (KI). Four received only KI of which two attained cure after 3 months and 9 months respectively, and the other two showed signs of regression. In one boy subsidence was associated with reduced circumference of thigh. Ketoconazole or itraconazole was given with KI to hasten regression when response was slow or there were side‐effects to KI. Conclusion Awareness and early recognition will prevent disfigurement produced by advanced disease, misdiagnosis and unnecessary surgical intervention.     

Predictive value of multiple tumor marker assays in second-look procedures for ovarian cancer

Sera from 51 ovarian cancer patients in clinical remission undergoing a second-look operation were studied. CA 125, CA 15-3, and 90K assays were performed in the week preceding surgery. Twenty-seven patients (53%) had no evidence of disease; 3 (6%) and 21 (41%) had microscopic and macroscopic disease. All patients but two with no evidence of disease had normal CA 125 serum levels, as did the three cases with microscopic disease and 6 patients with macroscopically detectable tumor. Of 17 patients with high CA 125 values, 15 (88%) were found to have persistent disease. Hence, the sensitivity and specificity of a CA 125 assay were 62 and 93%, respectively. CA 15-3 levels were low in all patients with no evidence of disease, in 2 cases with microscopic disease, and in 2 cases with residual tumor greater than 1 cm. All patients with high CA 15-3 titers had a positive second-look. The sensitivity and specificity of assay were 69 and 100%, respectively. With the 90K assay, 4 false-positive and 4 false-negative results were found and the sensitivity and specificity were 69 and 67%, respectively. However, 3 of 4 cases with a false-positive 90K assay had recurrence of disease with 7, 9, and 20 months later. Combination of the three markers increased sensitivity to 79%. These data suggest that more effective surveillance of disease status at second-look is obtained by using a combination of tumor marker assays.     

Steroid hormone receptors in carcinoma of the cervix: lack of response to an antiestrogen

Levels of estrogen (ER) and progesterone (PR) receptors were measured in 81 patients with primary cervical cancer. In 10 patients, receptor levels were evaluated before and after a short course of tamoxifen treatment. Fifty-six percent of cervical tumors contained ER, and 58%, PR. Receptor level and expression were not related to any clinical and histological characteristic. Moreover, both survival time and response to neoadjuvant chemotherapy did not correlate with the presence of ER and PR. Tamoxifen treatment did not influence ER and PR levels. Our results suggest that steroid hormone receptors are of little value in the management of cervical cancer, and that in this neoplasia, ER is probably not functional.     

CA 15-3 as a tumor marker in gynecological malignancies

Serum levels of CA 15-3 were measured in 778 samples from 270 patients with benign and malignant gynecological conditions. Malignant tumors were present in 180 patients including 58 cases with cancer of the ovary, 47 of the endometrium, 61 of the cervix, and 14 of the vulva. The 90 cases with benign conditions included 24 patients with ovarian tumors, 28 with fibromyomatosis, 18 with endometriosis, and 20 with endometrial hyperplasia. Of 180 cancer patients, CA 15-3 serum levels were elevated (greater than 30 U/ml) in 74 cases (41%) and the frequency of abnormal marker values increased with clinical stage. Of 90 patients with benign conditions, high CA 15-3 levels were found in 5 cases (6%) with benign ovarian tumors. Elevated levels of the marker were most commonly seen in ovarian cancer patients (71%). In endometrial, cervical, and vulvar cancer abnormal CA 15-3 values occurred in 32, 26, and 14%, respectively. In endometrial cancer the percentage of positive marker levels increased with more infiltrating and/or less differentiated tumors. A positive correlation was found between residual tumor after surgery and CA 15-3 levels. Serial measurements in sera of patients who underwent chemotherapy showed a good correlation with response to treatment. CA 15-3 values were correlated with clinical course of disease in 87% of cases.