Introduction Spinal tenosynovial giant cell tumor (TGCT) is a rare benign primary spinal tumor with aggressive behavior. The treatment strategy and prognosis of spinal TGCT remain unclear. This retrospective study aimed to evaluate the effectiveness of surgical treatment of spinal TGCT. Methods We enrolled 18 patients with spinal TGCT who underwent surgical treatment in our hospital between January 2002 and January 2021. Additionally, we reviewed 72 cases of spinal TGCT with surgical treatment reported in the previous literature. Therefore, a total of 90 cases of spinal TGCT were evaluated for their clinical characteristics, surgical details, radiotherapy, and prognosis. Results In terms of the extent of resection, 73 cases (81.1%) underwent gross total resection (GTR), and 17 cases (18.9%) underwent subtotal resection (STR). Regarding the technique of GTR, 12 cases (16.7%) underwent en bloc resection, while 60 cases (83.3%) underwent piecemeal resection. During a median follow-up duration of 36 months (range: 3–528 months), 17.8% (16/90) cases experienced local recurrence/progression. The local recurrence/progression rate in cases that underwent GTR was 8.2% (6/73), which was significantly lower than that in cases with STR (58.8%, 10/17) (p<0.001). The local recurrence/progression rate of en bloc resection was 8.3% (1/12), and that of piecemeal resection was 8.3% (5/60). Twelve cases underwent perioperative adjuvant radiotherapy, and one (8.3%, 1/12) of them showed disease progression during follow-up. Six recurrent/progressive lesions were given radiotherapy and all of them remained stable in the subsequent follow-up. Eight recurrent/progressive lesions were only treated with re-operation without radiotherapy, and half of them (50.0%, 4/8) demonstrated repeated recurrence/progression in the subsequent follow-up. Conclusion Surgical treatment could be effective for spinal TGCT cases, and GTR is the preferred surgical strategy. Piecemeal resection may be appropriate for spinal TGCT cases with an acceptable local recurrence/progression rate. Perioperative adjuvant radiotherapy may reduce the risk of postoperative local recurrence/progression, and radiotherapy plays an important role in the treatment of recurrent/unresectable spinal TGCT lesions.

Molecular typing of leukemia is the basis of risk assessment and treatment options. NUTM1 gene (15q14) rearrangement is a novel molecular type of acute B lymphoblastic leukemia (B-ALL), which is mainly found in children (≥1 year old) and infants (< 1 year old). The number of patients is slightly more in children than infants. However, in infantile ALL, NUTM1 rearrangement is the second most common molecular abnormality. These children respond well to conventional chemotherapy regimens and with a good prognosis. The number of leukemia patients with NUTM1 gene rearrangement is still small, and there is no relevant study or case report in China. NUT protein encoded by NUTM1 gene is a chromatin regulator, which is related to histone acetylation regulation and chromatin remodeling. This article aims to introduce the clinicopathological features, detection methods, possible tumorigenic mechanisms and therapeutic prospects of leukemia with NUTM1 gene rearrangement, to increase the understanding of this type of leukemia and provide reference for the precise molecular subtyping and treatment.

CONTEXT.—:Tumors harboring CIC-NUTM1 fusion are a newly recognized rare sarcoma, but the documented cases are still limited. It is unclear whether it is the same as classic CIC-DUX4 sarcoma in terms of its clinical, pathologic, and behavioral aspects.OBJECTIVE.—:To further explore the clinicopathologic characteristics of CIC-NUTM1 sarcoma.DESIGN.—:The cases were diagnosed based on immunophenotype, next-generation sequencing, and fluorescence in situ hybridization tests and compared with the reported CIC-NUTM1 sarcomas in the literature.RESULTS.—:Three cases of CIC-NUTM1 sarcomas involving the spine in adults were described. The tumors occurred in 2 men and 1 woman, aged 38 to 61 years. Two tumors were located in thoracic vertebrae and 1 in a cervical vertebra. All were locally advanced lesions destroying the bone and soft tissues without spinal cord involvement or metastasis. The tumors were composed of monomorphic small to medium-sized cells with round to epithelioid appearance. The architecture was lobulated and solid with diffuse or multifocal myxoid stroma. Next-generation sequencing revealed an in-frame fusion between CIC (exon 16 or 17) and NUTM1 (exon 5 or 6) in 3 cases. Fluorescence in situ hybridization confirmed CIC and NUTM1 breaks, and immunohistochemistry showed NUT staining in the nucleus. The patients died of disease 8 to 15 months (mean, 10.7 months) after presentation. Of the CIC-NUTM1 sarcomas reported in the literature along with our cases (n = 11), 8 cases developed in axial bone (5 spine, 3 skull base).CONCLUSIONS.—:CIC-NUTM1 sarcomas demonstrate distinct anatomic tropism for the axial skeleton and unfavorable behavior compared with classic CIC sarcoma.

Loss of function in SMARCB1/INI1 has been observed in a group of malignancies collectively defined as SMARCB1/INI1-deficient neoplasms. Primary intracranial SMARCB1/INI1-deficient tumors in adults are extremely rare. We collected eight primary adult sellar SMARCB1/INI1-deficient tumors to study their clinicopathological and (epi)genetic characteristics. We performed a comprehensive assessment of the clinical, radiological, morphological and immunohistochemical features. FISH analysis for the SMARCB1 locus and target exome sequencing for 425 cancer relevant genes were performed. Furthermore, six bona fide proximal epithelioid sarcoma (PES), fourteen atypical teratoid/rhabdoid tumors (ATRT) in brain and five pediatric poorly differentiated chordomas (PDC) in the clivus were collected for comparative analysis of differential diagnostic maker expression and DNA methylation profile. The median age was 47.1 years, ranging from 26 to 73 years. On morphology, tumors were characterized by sheets of monomorphic larger epithelioid-like cells, in two cases with rhabdoid cells. “Stag-horn” vasculatures were observed in five cases. The loss of INI1 protein expression, co-expression of epithelial makers and mesenchymal markers were observed in all cases. CD34 expression was observed in six cases. Heterozygous deletion of SMARCB1/INI1 was confirmed using FISH in six cases. The results of target exome sequencing showed three patients harbored heterozygous point mutations in SMARCB1. The epigenetic features of the primary adult sellar SMARCB1/INI1-deficient tumors resembled the ATRT-MYC subgroup, but clustered apart from PES and PDC. Based on epigenetic characteristics, primary adult sellar SMARCB1/INI1-deficient tumors represent a subtype of ATRT with similar epigenetic characteristics of ATRT-MYC subgroup. Our findings suggest that DNA methylation profiling should be utilized for differential diagnosis for the majority of epithelioid sarcoma and (sellar) rhabdoid tumor.

BACKGROUND:Cardiac fibroma (CF) is a rare tumor that has not been widely reported. This study investigated the clinical findings, histologic features, and differential diagnosis of CF. METHODS:A total of 12 CF cases were studied and reviewed using hematoxylin and eosin (H&E), special staining and immunohistochemical staining. The ALK gene was tested in 4 cases of cardiac fibroma with significant inflammatory cells. Clinicopathological data were retrospectively analyzed and followed up. RESULTS:The cases occurred in six males and six females ranging in age from 0.5 to 55 years (median, 5 years). The tumors were grossly single and solid (1-17 cm; mean 5.6 cm). The clinical signs and symptoms depended largely on the location of the tumor. Microscopically, the CFs observed were composed of monomorphic spindle cells and abundant collagen. The spindle cells demonstrated little or no atypia. The histology of CFs in infants and young children showed some differences from those in adults. Infants and young children with fibromas exhibited cellular types with more inflammatory infiltration. All tumors expressed vimentin markers. Eleven of 12 cases (91.7%) were positive for SMA by immunohistochemistry. ALK immunostaining and ALK-FISH tests showed negative results. Follow-up information was available for all patients. The mean postoperative follow-up was at 3 years (range 2 months-8.8 years). All patients were alive with no evidence of disease. CONCLUSIONS:Our study shows that CFs exhibit a wide morphological spectrum of soft tissue tumors with fibroblastic or myofibroblastic differentiation and/or components. Infants and younger pediatric patients with fibromas have tumors that are more hypercellular and more likely to be misdiagnosed with aggressive or malignant lesions than adults. Finally, the data indicate that CF exhibits benign behavior and that local resection is safe and effective.

Liposarcoma is a malignancy of fat that commonly develops in the retroperitoneum (1,2). In this anatomic location, tumors can be low grade, well differentiated (WD) or have an additional high grade, dedifferentiated (DD) component. Entirely WD tumors are typically indolent and do not metastasize, while tumors with a DD component are more aggressive and have distant metastatic potential. WD and DD liposarcoma can be regarded as opposite ends of a spectrum of disease aggressiveness (e.g., lipoma-like WD to rhabdomyoblastic DD) (3). For patients with retroperitoneal (RP) liposarcoma, high resolution, contrast enhanced CT of the abdomen and pelvis is critical as part of the initial evaluation (4). This should be performed if not done already at the time of referral. WD liposarcomas are well-defined round or lobulated masses predominantly composed of macroscopic fat with few, thin septations (5). Non-fatty, soft tissue density areas with a ground glass appearance can occur and typically constitute less than 25% of the tumor (6). DD areas manifest as discrete nodular soft tissue density areas often with good demarcation from surrounding fat and show variable contrast enhancement. Internal septations are thicker (>2 mm) in DD. Calcifications may also be seen and would suggest DD liposarcoma if found in the nonfatty areas. For patients with suspected DD disease, CT of the chest should be obtained as part of staging to rule out distant metastasis to the lungs (4). To confirm the diagnosis of RP liposarcoma, percutaneous core needle biopsy can be performed. Biopsy may not always be necessary, especially in cases in which the radiologic features highly suggest the diagnosis. On histopathologic examination, WD liposarcoma consists of adipocytes of varying size with fibrous septae and interspersed hyperchromatic cells (7). DD areas are typically juxtaposed next to WD areas with an abrupt transition from the adipocytic (WD) to non-adipocytic, high grade appearing areas containing prominent mitotic figures (DD). Both WD and DD liposarcoma have amplification of 12q13-15 which includes several important genes such as MDM2 and CDK4. This molecular feature is considered pathognomonic and can be used for the definitive diagnosis if the histologic features alone are unclear. For all patients with nonmetastatic retroperitoneal liposarcoma, surgery is the mainstay of treatment. However, in the retroperitoneum, tumors are frequently massive in size and can potentially invade critical organs and major blood vessels, making surgery very difficult. Whether due to technical factors (e.g., “positive” margins) or disease biology [e.g., “field defect” (8)], recurrence rates after resection are high and do not plateau over time (9). Radiation therapy may offer improved local control, but the true benefit for retroperitoneal liposarcoma remains controversial (10). Sarcoma MDT Series

促结缔组织增生性小圆细胞肿瘤(desmoplastic small round cell tumor,DSRCT)是一种好发于青少年腹腔、盆腔内的高度恶性肿瘤.由Gerald和Rosai 于1989年首次描述[1],并于1991年正式命名.DSRCT非常少见,在软组织肉瘤中所占比例＜1％.现报道3例发生于腹腔的DSRCT,总结分析其临床病理特征,以提高对该肿瘤的认识、诊断及鉴别诊断水平.

This paper reported a case of cervical intraspinal metastasis of alveolar rhabdomyosarcoma (ARMS). The clinicopathological features, surgical treatment, chemotherapy and prognosis were introduced and the current literature was reviewed. The diagnosis, differential diagnosis, treatment, molecular features and prognosis of the disease were comprehensively analyzed to improve clinicians' knowledge of this rare disease. The primary lesion appeared about 1 year ago which was painless mass of left hand whose size was about 2 cm×2 cm. After conservative treatment, the mass gradually enlarged and the mass was resected. Postoperative pathology revealed embryonic rhabdomyosarcoma. Postoperative chemotherapy with recombinant human endostatin, liposomal doxorubicin and ifosfamide was performed. The left neck mass was found about 3 months ago, and then the left neck mass was resected under general anesthesia. Postoperative pathological examination showed small round cell malignant tumors. Severe left upper extremity pain began about 2 weeks ago with nocturnal pain and supine pain. Non-steroidal anti-inflammatory drugs were needed to relieve pain which was accompanied by numbness and weakness of the left upper extremity. MRI showed a intraspinal tumor at C5. The left thumb and index finger were absent. Hypoesthesia, muscle atrophy and hypotonia of the left upper limb were confirmed. The muscle strength of biceps brachii and deltoid muscle of the left upper limb was grade 0, the muscle strength of extensor carpus and interphalangeal muscle was grade II, the muscle strength of intrinsic muscles of hands was grade I. The tendon reflex of the left upper limb disappeared. Intraspinal mass was removed and the pain was relieved. But there was no significant change in the muscle strength of the left upper limb. Pathological examination revealed small cell malignancies which were poorly differentiated with diffuse patchy distribution and disordered arrangement. The tumor cells had round, oval or irregular nuclei, and few cytoplasms were positive for Myogenin and MyoD1. FISH test of FOXO1 gene was positive. More than 50% of nuclei showed redgreen signal separation, and the distance between redgreen signals was larger than double diameter of the signal points, which supported ARMS. Total resection of intraspinal tumors was achieved and postoperative chemotherapy was admitted. But intraspinal disseminated metastasis occurred rapidly. ARMS was rare, aggressive tumor with poor prognosis. Subdural metastasis was rare. Correct diagnosis and classification can be made only with help of modern molecular diagnostic methods, which is effective to guide the treatment.

The objective of this research was to develop a robust gene expression-based prognostic signature and scoring system for predicting overall survival (OS) of patients with high-grade serous ovarian cancer (HGSOC). Transcriptomic data of HGSOC patients were obtained from six independent studies in the NCBI GEO database. Genes significantly deregulated and associated with OS in HGSOCs were selected using GEO2R and Kaplan–Meier analysis with log-rank testing, respectively. Enrichment analysis for biological processes and pathways was performed using Gene Ontology analysis. A resampling/cross-validation method with Cox regression analysis was used to identify a novel gene expression-based signature associated with OS, and a prognostic scoring system was developed and further validated in nine independent HGSOC datasets. We first identified 488 significantly deregulated genes in HGSOC patients, of which 232 were found to be significantly associated with their OS. These genes were significantly enriched for cell cycle division, epithelial cell differentiation, p53 signaling pathway, vasculature development, and other processes. A novel 11-gene prognostic signature was identified and a prognostic scoring system was developed, which robustly predicted OS in HGSOC patients in 100 sampling test sets. The scoring system was further validated successfully in nine additional HGSOC public datasets. In conclusion, our integrative bioinformatics study combining transcriptomic and clinical data established an 11-gene prognostic signature for robust and reproducible prediction of OS in HGSOC patients. This signature could be of clinical value for guiding therapeutic selection and individualized treatment.

Objective To investigate the value of USP6 gene rearrangement in the pathological differentiation of primary and secondary aneurysmal bone cyst(ABC). Methods Fluorescence in situ hybridization(FISH)analysis was performed in 20 cases of routine formalin fixed paraffin embedded tissues using dual color USP 6 gene breaking apart probes.Nine samples were obtained by core biopsy,and 11 were resected by surgery.The breaking apart positive cells were observed and counted.The cases with positive cells >7% were judged as positive. Results The immunofluorescence staining could be interpreted in 18 cases, while no satisfactory signal could be detected in 2 cases.The USP6 gene breaking apart was observed in 9 cases(positive cells varied from 10%to 70%),being supported to be primary ABC,including 2 cases of solid variant.It was negative in the other 9 cases(positive cells <1%),among which 4 cases were confirmed to be secondary ABC by comprehensive pathology examination on the postoperative samples,derived from giant cell tumor of bone(2 cases),osteoblastoma(1 case),and fibrous dysplasia(1 case).The sensitivity, specificity and accuracy of USP6 gene breaking apart in primary ABC were 64%(9/14), 100%(4/4)and 72%(13/18), respectively. Conclusion USP6 gene break apart detected by FISH method is helpful for the pathological diagnosis of primary ABC, especially for small samples obtained by biopsy and lesions with uncommon clinical or histological features.

Aggressive angiomyxoma is a rare mesenchymal tumor. To discuss the clinicopathological characteristics, treatment and prognosis of aggressive angiomyxoma, four cases of aggressive angiomyxoma of soft tissue in abdominopelvic cavity were collected from January 2015 to August 2017 in Peking University International Hospital. The clinical data, imaging examination, histopathological features, immunophenotype, therapy and prognosis were analysed. The related literatures were reviewed. All of the patients were adult females, age range from 27 to 49 years and mean 33 years. The clinical complaint was abdominal distention with no definite predisposing factor, or occasional physical-exam finding with no obvious discomfort. Three cases were primary and one case was recurrent. Typical layered or swirled structural sign was presented by CT and MRI scanning of three cases. All tumors located in the pelvic cavity, and attached to the uterus, vagina, rectum, bladder or ureter. One case was involved in the abdominal cavity simultaneously,adhesive to the spine, inferior vena cava and spleen. The gross appearance of tumors was from 5 to 22 cm in maximum diameter. The sectioned surfaces were soft, solid, white or yellow-gray, focally accompanied by edema, mucoid degeneration or cystic change. Microscopic observation showed that tumor cells were short spindle shaped and little atypical, the stroma was loose like edematous mucus or collagen, and the vessels were rich in thin and thick-wall. Partially the vessel wall expressed hyaline degeneration. Also tumors might infiltrate surrounding tissue, such as fat or nerve. The immunohistochemistry results of all cases were estrogen receptor and progesterone receptor diffusely moderate positive, Desmin and smooth muscle actin mostly positive, whereas CD34 expressed only in vessel and S-100 protein, CD117 and Dog1 all negative. All the tumors were complete surgical excision. During follow-up, one case recurred the second time. Our conclusions are the diagnosis of aggressive angiomyxoma is based on pathological morphology supplemented by immunohistochemistry, and the tumor may relapse after surgical resection.

Objective To investigate the clinicopathological features, differential diagnosis, treatment and prognosis of dedifferentiated liposarcoma with rhabdomyoblastic differentiation. Methods Six cases of retroperitoneal dedifferentiated liposarcoma with rhabdomyoblastic features were collected from December 2014 to August 2017 at Peking University International Hospital. The clinical manifestations, histomorphology, immunophenotype, treatment and follow-up data were analyzed, and relevant literature reviewed.Results The six patients included two males and four females, with age range of 47 to 66 years (mean 56 years). One case was primary and the five cases were recurred;four cases received radiotherapy and/or chemotherapy. The tumor diameters were 10 to 30 cm. Microscopically, the dedifferentiated areas were well demarcated from the well-differentiated areas, and resembled malignant fibrous histiocytoma, fibrosarcoma or solitary fibrous tumor with obvious mitotic figures or necrosis. Rhabdomyoblastic cells made up 10% to 30% of dedifferentiated area,and were scattered or focally distributed,being rounded,band-like or spindled,mostly with abundant eosinophilic cytoplasm. No striated structure was found, and the nucleis were rounded,oval or irregular shape with central or eccentric prominent nucleoli. Rare rhabdomyoblastic cells were lymphocytoid. The tumors encroached the muscular layer of intestinal wall in two cases and perirenal adipose tissue in one case. By immunohistochemical staining, the rhabdomyoblastic cells of all cases were all positive for desmin, myogenin, myoD1 and SMA; S-100 protein was expressed in one case (1/6). Well-differentiated area in two cases and dedifferentiated areas in all six cases were positive for MDM2,CDK4 and p16. After resection of the tumor and adjacent organs, one case recurred three months later,but there was no distant metastasis. Conclusions Dedifferentiated liposarcoma with rhabdomyoblastic differentiation is a rare dedifferentiated liposarcoma. Pathological diagnosis is based on morphology, with supplementary immunohistochemical or molecular evaluation for further differential diagnosis. Multiple relapses may occur after surgical ablation plus adjuvant therapy.

Purpose To investigate the clinicopathology and the expression of H3K27me3 in retroperitoeal malignant pe-ripheral nerve sheath tumors (MPNST). Methods The clini-copathology and prognosis of 13 cases MPNST were analyzed. Immunohistochemical analysis was used to detect H3K27me3 in MPNST, synovial sarcoma, dedifferentiated liposarcoma and leiomyosarcoma. Results 13 cases of MPNST were high-grade. The mean diameter of tumors was 20 cm. 2-year survival rate of MPNST was about 60% . 5-year survival rate of MPNST was a-bout 30% . Compared to NF-1 associated and sporadic MPNST (P＜0. 05), the RT-induced MPNST had a poor prognosis. Re-currence and distant metastasis patient had a poor prognosis( P＜0. 05). Age had no significant effect on patient survival. In addition, immunohistochemical staining showed that the expres-sion of H3k27me3 was absent in 11 of 13 cases of MPNST. And compared with the expression of H3K27me3 in synovial sarco-ma, dedifferentiated liposarcoma and leiomyosarcoma, it had statistical significance of that expression in MPNST (P＜0. 05). Conclusion Retroperitoeal MPNST is common at high-grade. Tumor volume is relatively large and prognosis is poor. RT-in-duced, recurrence and distant metastasis play an important role in survival rate of MPNST. H3K27me3 which is more common absence in high-grade could be an effective marker of MPNST.

目的 探讨脊柱腱鞘巨细胞瘤的临床病理特点.方法 收集脊柱腱鞘巨细胞瘤8例,分析临床、病理及免疫组化特点,进行随访和预后观察.结果 8例脊柱腱鞘巨细胞瘤均呈弥漫型.患者年龄22 ～ 45岁,男女各4例;颈椎6例,胸椎2例.影像显示病变主要位于附件小关节或以小关节为中心,邻近骨质压迫侵蚀性破坏,周围骨硬化多见;镜下肿瘤由单个核组织细胞样细胞构成,混合多核巨细胞、泡沫细胞、慢性炎细胞、含铁血黄素和纤维化,成片状或结节样.其中2例以密集排列的梭形细胞为主,核分裂计数较高,提示恶变.免疫组化CD68和vimentin(+),p63、AE1/AE3和EMA(-),1例有少量细胞desmin(+).随访7个月～12年,2例局部复发,均未见转移和死亡.结论 发生于脊柱的弥漫性腱鞘巨细胞瘤多累及颈椎,与附件小关节关系密切.不同病例组织学差异较大,复发率为25％,与组织学表现无关.

Three patients with spinal primary diffuse-type tenosynovial giant cell tumor (DTGCT) received surgical treatment in our department between 2002 and 2012. All 3 patients were female and aged 23, 33, and 44 years. The mean time from symptom onset to diagnosis was 17 months (range, 5-24 months). One case involved the C1 right lateral mass and C2 vertebral body, the second involved the C1-2 left lateral masses and C2 vertebral body, and the third involved the C5-7 left lateral mass and C6 vertebral body. All patients underwent computed tomographyguided biopsy to confirm the diagnosis of tenosynovial giant cell tumor. Gross total resection was achieved in all patients, including 2 piecemeal resections and 1 en-bloc resection. The mean follow-up time was 6 years (range, 1-11 years), and there was no sign of recurrence in the patients. Seventy cases have been identified so far in the English literature. The male to female ratio is 1:1.38. The mean patient age is 38.5 ± 17.9 years. The tumor distribution includes 32 cases in the cervical spine, 14 in the thoracic spine, 22 in the lumbar spine, and 1 in the sacrococcygeal region. The recurrence rate for patients who underwent gross total resection was 7.7%, and tumor progression was observed in 66.7% of patients who underwent subtotal resection. Above all, DTGCT is a rare primary spinal neoplasm. Preoperative image-guided biopsies play an important role in the diagnosis and treatment strategy. Gross total resection is the best treatment strategy and can reduce the recurrence rate.

The protein 4.1 family consists of four members, 4.1R, 4.1N, 4.1B and 4.1G, each encoded by a distinct gene. All 4.1 mRNAs undergo extensive alternative splicing. Functionally, they usually serve as adapters that link actin-based cytoskeleton to plasma membrane proteins. It has been reported that 4.1 proteins are expressed in most animal cell types and tissues including epithelial cells and epithelial tissues. However, the expression of 4.1 proteins in large intestine has not been well characterized. In the present study, we performed RT-PCR, western blot and immunohistochemistry analysis to characterize the transcripts, the protein expression and cellular localization of 4.1 proteins in the epithelia of mouse large intestine. We show that multiple transcripts derive from each gene, including eight 4.1R isoforms, four 4.1N isoforms, four 4.1B isoforms and six 4.1G isoforms. However, at the protein level, only one or two major bands were detected, implying that not all transcripts are translated and/or the proteins do not accumulate at detectable levels. Immunohistochemistry revealed that 4.1R, 4.1N and 4.1B are all expressed at the lateral membrane as well as cytoplasm of epithelial cells, suggesting a potentially redundant role of these proteins. Our findings not only provide new insights into the structure of protein 4.1 genes but also lay the foundation for future functional studies.

BACKGROUND CONTEXT: Vertebral hemangiomas (VHs) are called benign tumors but are actually just vascular malformations. The diagnosis and treatment for aggressive VHs is still controversial, due to their rarity.PURPOSE: To evaluate the safety and efficiency of the present diagnostic methods and treatment choices.STUDY DESIGN: A retrospective study of aggressive VHs with neurologic deficit.PATIENTS SAMPLE: A total of 29 consecutive aggressive VH cases were diagnosed and treated in our department since 2001.OUTCOME MEASURES: We routinely took anteroposterior and lateral spinal roentgenograms, computed tomography, and magnetic resonance images.METHODS: Trocar biopsy is indicated in suspected malignant cases. Radiotherapy was usually our first choice if the neurologic deficit was mild or developed slowly. Surgery was indicated if the neurologic deficit was severe or developed quickly or if the radiotherapy was not effective.RESULTS: This series included 12 males and 17 females, and the mean age at diagnosis was 44.0 years (range, 21-72 years). Ten patients had radiculopathy, 1 had cauda equina syndrome, and 18 cases had myelopathy. Twenty-one cases had lesions in the thoracic spine, 5 in the lumbar, and 3 in the cervical region. Eleven cases had untypical image findings, including five cases with pathologic vertebral fracture. The neurologic compression came from only epidural soft tumor mass in 18 cases, whereas it came from both bony compression and soft lesion in the other 11 cases. Ten cases had radiotherapy alone, but two failed and had surgery later. Twenty-one cases had surgery. In the 12 cases having surgical decompression without vertebroplasty, the average estimated blood loss was 1900 mL, and it was 1093 mL for the eight cases having decompression with vertebroplasty. The average follow-up was 51.1 months (range, 24-133 months). There was no recurrence in those cases with radiotherapy, whereas three had local recurrence in those six cases treated by surgical decompression alone without radiotherapy.CONCLUSIONS: In aggressive VHs, epidural soft-tissue compression was usually the main reason for neurologic deficit. In cases with rapid progressive and/or severe myelopathy, posterior decompression and stabilization could be combined with intraoperative vertebroplasty to reduce blood loss. (C) 2014 Elsevier Inc. All rights reserved.

目的 报告1例老年面部中低分化的鳞状细胞癌,并系统性回顾国内关于皮肤鳞状细胞癌病例报告文献.方法 对该病侧透行详细的临床及实验室检查及活检,行扩大切除术后随访至今.并检索近10年内国内关于皮肤鳞状细胞癌的报告文献建立数据库进行描述性分析.结果 患者男,75岁.4个月前右颧部出现直径约0.5cm的红斑,伴轻微触痛,冷冻治疗后逐渐扩大至直径为2cm,表面破渍,外用抗生素药膏治疗无效,皮损活检提示为中低分化鳞状细胞癌,行扩大切除术1年后随访,无复发.共获得该类病例报告文献181篇,涉及208例患者,其中男149倒,女59例,各年龄段均有报道,以中老年患者多见(45岁以上者150例,占72.12％);其在国内南北方地区报道数量相近.病程20d ～ 40年,皮损多见于光暴露部位,50.00％患者出现溃疡,21.63％伴有触痛,55.77％有原发病史,29.81％提及误诊,其中约半数误诊为皮肤感染(43.55％),5.77％出现远隔转移.结论 光暴露部位出现触痛或破渍性皮损时,应高度警惕鳞状细胞癌的可能.该病误诊率高,及时行组织病理检查有助于本病早期诊断及治疗.

Objective To explore the pathological basis of the magnetic resonance imaging( MRI) features of giant cell tumors( GCTs) in the mobile spine. Methods The MRI images and pathological appearances of 21 patients with GCT were retrospectively reviewed. Results Twenty tumors showed homogeneous low to intermediate signal intensity on T1WI images and one tumor showed heterogeneous signal intensity on T1WI. 11 cases showed iso to low signal intensity on T2WI.Calcification,bone like matrix,collagen matrix and hemosiderin deposition made low signal intensity. Eight tumors showed heterogeneous signal intensity mainly due to secondary cystic changes,necrosis,and hemorrhage. Abundant mononuclear and multinucleated giant cells without calcification,bone-like matrix,collagen matrix and hemosiderin deposition made tumors as relatively high signal on T2WI. Curvilinear low signal was observed in six cases on T1WI and T2WI images within the vertebral body,which corresponded to thickened trabeculae,fibrous setae,or hemosiderin deposit. The low-signal-intensity pseudocapsule was observed in one tumor due to surrounding fibrous proliferation. Abundant thin walled capillaries,blood sinus were the basement of the enhancement pattern. Contrast enhanced scan showed significant homogeneous enhancement in six cases and nine cases showed heterogeneous enhancement due to cystic changes,necrosis. One case showed no significant enhancement due to rare thin-walled capillaries in the stroma. Conclusion MRI appearances can reflect the pathological characteristic of GCTs. The proportion of parenchyma and interstitial led to tumor signal diversity.

Introduction: Emerging evidence suggests that microRNAs (miRNAs) are crucially involved in tumorigenesis and that paired expression profiles of miRNAs and mRNAs can be used to identify functional miRNA-target relationships with high precision. However, no studies have applied integrated analysis to miRNA and mRNA profiles in chordomas. The purpose of this study was to provide insights into the pathogenesis of chordomas by using this integrated analysis method.Methods: Differentially expressed miRNAs and mRNAs of chordomas (n = 3) and notochord tissues (n = 3) were analyzed by using microarrays with hierarchical clustering analysis. Subsequently, the target genes of the differentially expressed miRNAs were predicted and overlapped with the differentially expressed mRNAs. Then, GO and pathway analyses were performed for the intersecting genes.Results: The microarray analysis indicated that 33 miRNAs and 2,791 mRNAs were significantly dysregulated between the two groups. Among the 2,791 mRNAs, 911 overlapped with putative miRNA target genes. A pathway analysis showed that the MAPK pathway was consistently enriched in the chordoma tissue and that miR-149-3p, miR-663a, miR-1908, miR-2861 and miR-3185 likely play important roles in the regulation of MAPK pathways. Furthermore, the Notch signaling pathway and the loss of the calcification or ossification capacity of the notochord may also be involved in chordoma pathogenesis.Conclusion: This study provides an integrated dataset of the miRNA and mRNA profiles in chordomas, and the results demonstrate that not only the MAPK pathway and its related miRNAs but also the Notch pathway may be involved in chordoma development. The occurrence of chordoma may be associated with dysfunctional calcification or ossification of the notochord.