结节病易误诊,据王洪武等~([1])收集国内18篇关于此病误诊的文献,误诊率高达63.2%,当然有误诊就会有误治,如孙永昌等~([2])报道26例结节病在影像学检查诊断的第一印象中拟诊结核5例,其中就有2例完成规范的抗结核治疗,为此应引起临床对本病诊治的重视。

Sarcoidosis

Chromosome aberrations, in particular translocations and their corresponding gene fusions, have an important role in the initial steps of tumorigenesis; at present, 358 gene fusions involving 337 different genes have been identified. An increasing number of gene fusions are being recognized as important diagnostic and prognostic parameters in malignant haematological disorders and childhood sarcomas. The biological and clinical impact of gene fusions in the more common solid tumour types has been less appreciated. However, an analysis of available data shows that gene fusions occur in all malignancies, and that they account for 20% of human cancer morbidity. With the advent of new and powerful investigative tools that enable the detection of cytogenetically cryptic rearrangements, this proportion is likely to increase substantially.

The impact of translocations and gene fusions on cancer causation

Soft tissue and visceral sarcomas: ESMO–EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up†

This consensus document provides an up-to-date account of the various methods available for the investigation of chronic venous insufficiency of the lower limbs (CVI), with an outline of their history, usefulness, and limitations. CVI is characterized by symptoms or signs produced by venous hypertension as a result of structural or functional abnormalities of veins. The most frequent causes of CVI are primary abnormalities of the venous wall and the valves and secondary changes due to previous venous thrombosis that can lead to reflux, obstruction, or both. Because the history and clinical examination will not always indicate the nature and extent of the underlying abnormality (anatomic extent, pathology, and cause), a number of diagnostic investigations have been developed that can elucidate whether there is calf muscle pump dysfunction and determine the anatomic extent and severity of obstruction or reflux. The difficulty in deciding which investigations to use and how to interpret the results has stimulated the development of this consensus document. The aim of this document was to provide an account of these tests, with an outline of their usefulness and limitations and indications of which patients should be subjected to the tests and when and of what clinical decisions can be made. This document was written primarily for the clinician who would like to learn the latest approaches to the investigation of patients with CVI and the new applications that have emerged from recent research, as well as for the novice who is embarking on venous research. Care has been taken to indicate which methods have entered the clinical arena and which are mainly used for research. The foundation for this consensus document was laid by the faculty at a meeting held under the auspices of the American Venous Forum, the Cardiovascular Disease Educational and Research Trust, the European Society of Vascular Surgery, the International Angiology Scientific Activity Congress Organization, the International Union of Angiology, and the Union Internationale de Phlebologie at the Abbaye des Vaux de Cernay, France, on March 5 to 9, 1997. Subsequent input by co-opted faculty members and revisions in 1998 and 1999 have ensured a document that provides an up-to-date account of the various methods available for the investigation of CVI.

Investigation of Chronic Venous Insufficiency A Consensus Statement

Tumors and tumorous conditions of the bones and joints

Sarcomas--like leukemias, which are also mesodermal malignancies--carry biological significance disproportionate to their clinical frequency. Identification of mutations and translocations associated with these tumors has illuminated aberrant signaling pathways that cause these diseases, determine their behavior, and are therapeutic targets. Activated receptor-associated tyrosine kinase c-kit, mutated in most gastrointestinal stromal tumors, has proven a clinically effective target for enzyme inhibition. A translocation involving a single gene family, consisting of EWS and related genes, has been identified in five different sarcomas, and its chimeric protein products could prove similarly amenable to inhibitors. Resolution of the histopathological complexity is being aided by data from molecular and chromosomal characterization. Improvements in imaging, definition of prognostic factors, and surgical and radiotherapeutic treatment have resulted in improved local control. Continued progress will depend on further adapting the rapidly evolving technologies of genomics and proteomics. It will also depend upon accurate histopathological diagnosis based on validated reagents and consistent methodologies applied to adequate tissue samples derived from patients with complete clinical data. Finally, multicenter, coordinated trials, such as those that occurred with assessment of imatinib mesylate in metastatic gastrointestinal stromal tumors, will assure the most rapid reductions in morbidity and mortality.

https://clincancerres.aacrjournals.org/content/clincanres/9/6/1941.full.pdf

Soft Tissue Sarcomas of Adults State of the Translational Science

MR imaging is considered the procedure of choice for detecting and staging soft-tissue tumors. Its ability to show differences between benign and malignant soft-tissue tumors and its usefulness in suggesting a specific histologic diagnosis remain controversial. We studied the MR features of synovial sarcoma in 34 patients to determine if these tumors have specific MR findings that can be used to suggest the diagnosis.MR imaging studies of 34 patients with synovial sarcoma were collected from two institutions and studied to determine the following characteristics of the tumor: size, shape, location, signal intensity and homogeneity, margin definition, presence of hemorrhage, and relationships to adjacent structures. These findings were then correlated with pathologic findings.The tumors tended to be deep, large (85% were > or = 5 cm in diameter), and located in the extremities with epicenters close to joints (63% within 7 cm of a joint). The lesions were usually inhomogeneous on T2-weighted images (82%) an...

https://www.ajronline.org/doi/pdfplus/10.2214/ajr.161.4.8396848

Synovial sarcoma: MR imaging findings in 34 patients

This review examines the role of MR imaging in the diagnosis and staging of tumors and tumorlike lesions of bone and soft tissue. For tumors of bone, the plain radiograph is not only the least expensive diagnostic test but is the most reliable predictor of the histologic nature of a given lesion. Consequently, it should be the first procedure performed and serve as the basis for determining the next step in the patient's evaluation. MR imaging is the examination of choice for staging bone tumors. CT is preferred to MR imaging only when the characteristics of the lesion are inadequately defined on plain radiographs, as may occur in flat bones. Although MR imaging is of limited value in predicting the histology of bone tumors, it is a useful tool for distinguishing round-cell tumors and metastases from stress fractures and medullary infarcts in symptomatic patients with normal radiographs. For depiction of soft-tissue masses, MR imaging is unrivaled. The histologic nature of a soft-tissue mass may, in some instances, be predicted on the basis of its MR appearance and multicentricity. Biopsy of bone and soft-tissue tumors should follow and not precede MR imaging. MR imaging reliably shows change in tumor volume after radiation or chemotherapy. It is less reliable in predicting the amount of tumor necrosis.

MR imaging of tumor and tumorlike lesions of bone and soft tissue.

Mastocytosis (Mast Cell Disease)

To determine the demographics, imaging findings, clinical symptoms, and prognosis of primary vertebral Ewing’s sarcoma (PVES). A retrospective review of medical records and radiological studies of patients diagnosed with PVES from 1936 through 2001 in our institution and Department of Pathology consultation files was undertaken. Metastatic and soft tissue Ewing’s sarcoma cases were excluded. From a total of 1,277 cases of Ewing’s sarcoma, 125 (9.8%) had a primary vertebral origin. There were 48 females and 76 males. Patient ages ranged from 4 to 54 (mean 19.3, standard deviation 10.7, median 16) years. Vertebral column distribution was four cervical (3.2%), 13 thoracic (10.5%), 31 lumbar (25%), and 67 sacrum (53.2%). More than one vertebral segment was involved in ten cases (8%). Satisfactory imaging studies were available in 51 patients: 49 radiographs, 27 computerized tomography (CT), and 23 magnetic resonance imaging (MRI) studies. The majority of tumors were lytic (93%). Three cases were mixed lytic and sclerotic (6%) and one sclerotic. In the nonsacral spine, the majority of lesions (12/20) involved the posterior elements with extension into the vertebral body. Five cases were centered in the vertebral body with extension into the posterior elements. Two cases were limited to the posterior elements, and one case solely involved the vertebral body. Ala was the most frequently affected site in the sacrum (18/26). Spinal canal invasion was frequent (91%). Detailed clinical information was available in 53 patients. Duration of symptoms ranged from 1 to 30 (mean 7) months. Local pain was the first symptom and seen in all cases. Neurological deficits were present in 21 (40%) cases. All patients received radiation in various dosages; 70% additionally received chemotherapy. Twenty-five patients had surgery, and two patients received bone marrow transplantation. Forty-five patients had follow-up; the five-year disease-free survival probability is 0.53. Disease-free survival probabilities are 0.60 for sacral tumors and 0.45 for nonsacral tumors. PVES is an uncommon tumor, usually seen in the second decade of life (mean age 19.3 years) with a male predilection (62%). An aggressive osteolytic lesion, particularly in the sacrum, should raise suspicion for this tumor in adolescents. Prognosis was similar in sacral and nonsacral tumors.

Murali Sundaram

Papers

Soft Tissue Sarcomas of Adults State of the Translational Science

Synovial sarcoma: MR imaging findings in 34 patients

MR imaging of tumor and tumorlike lesions of bone and soft tissue.

Mastocytosis (Mast Cell Disease)

Primary Ewing’s sarcoma of the vertebral column