Gene Rearrangement ; Humans ; RNA-Binding Protein EWS ; genetics ; Soft Tissue Neoplasms ; genetics

Bone Neoplasms/genetics* ; Consensus ; Humans ; Molecular Diagnostic Techniques ; Pathology, Molecular ; Soft Tissue Neoplasms/pathology*

Diagnosis, Differential ; Humans ; Sarcoma ; pathology ; Soft Tissue Neoplasms ; classification ; genetics ; pathology

Humans ; Sarcoma, Small Cell/pathology* ; Sarcoma/pathology* ; Oncogene Proteins, Fusion ; Biomarkers, Tumor ; Soft Tissue Neoplasms/genetics*

Objective: To investigate the clinicopathological features, immunophenotypes and molecular genetics of EWSR1-SMAD3 positive fibroblastic tumor (ESFT) with an emphasis on differential diagnosis. Methods: The clinicopathological data, immunohistochemical profiles and molecular profiles of 3 ESFT cases diagnosed at the Department of Pathology, Fudan University Shanghai Cancer Center from 2018 to 2021were analyzed. The related literature was also reviewed. Results: There were two males and one female. The patients were 24, 12 and 36 years old, respectively. All three tumors occurred in the subcutis of the foot with the disease duration of 6 months to 2 years. The tumors were presented with a slowly growing mass or nodule, accompanied with pain in 1 patient. The tumors ranged in size from 0.1 to 1.6 cm (mean, 1.0 cm). Microscopically, the tumors were located in the subcutaneous tissue with a nodular or plexiform growth pattern. They were composed of cellular fascicles of bland spindle cells with elongated nuclei and fine chromatin. One of the tumors infiltrated into adjacent adipose tissue. There was no nuclear atypia or mitotic activities. All three tumors showed prominent stromal hyalinization with zonal pattern present in one case. Focal punctate calcification was noted in two cases. The immunohistochemical studies showed that tumor cells were diffusely positive for ERG and negative for CD31 and CD34, with Ki-67 index less than 2%. Fluorescence in situ hybridization on the two tested cases identified EWSR1 gene rearrangement. The next generation sequencing analysis demonstrated EWSR1-SMAD3 fusion in all three cases. During the follow up, one patient developed local recurrence 24 months after the surgery. Conclusions: ESFT is a benign fibroblastic neoplasm and has a predilection for the foot, characterized by ERG immunoreactivity and EWSR1-SMAD3 fusion. Local recurrence might occur when incompletely excised. Familiarity with its clinicopathological features is helpful in distinguishing it from other spindle cell neoplasms that tend to occur at acral sites.
Adult ; Child ; Female ; Humans ; Male ; Biomarkers, Tumor/analysis* ; China ; In Situ Hybridization, Fluorescence ; Neoplasms, Fibrous Tissue/pathology* ; RNA-Binding Protein EWS/genetics* ; Smad3 Protein/genetics* ; Soft Tissue Neoplasms/surgery*

Humans ; Sarcoma, Small Cell/pathology* ; Transcription Factors ; Gastrointestinal Tract/pathology* ; Oncogene Proteins, Fusion/genetics* ; Biomarkers, Tumor ; Soft Tissue Neoplasms

OBJECTIVETo explore the expression and significance of E-cadherin (E-cad) and beta-catenin (beta-cat) in synovial sarcoma.

METHODSExpression of E-cad and beta-cat in 72 cases of synovial sarcoma were detected by tissue microarray technique and immunohistochemistry. The relationships between E-cad and beta-cat expression and clinicopathological data and survival rate were analyzed.

RESULTS(1) 95.1% of dots on the tissue microarrays were observable morphologically. The background was clear and the contrast was vivid after immunohistochemistry. (2) The expression of E-cad was reduced in 56 patients (77.8%) and that of beta-cat was reduced in 51 patients (70.8%). (3) In patients with synovial sarcoma of monophasic fibrous type, grade III, and in patients with recurrence or metastasis, CK-negative and EMA-negative the rates of reduced expression of E-cad and beta-cat were significantly higher than those with primary sarcoma of biphasic type, grade II, CK-positive and EMA positive (P < 0.05 for all). (4) The survival of synovial sarcoma patients with E-cad and beta-cat expressions preserved was significantly better than those with reduced expressions (P = 0.012, P = 0.047).

CONCLUSIONThe expression of E-cad and beta-cat is correlated with cell differentiation. Reduced expression of E-cad and beta-cat may indicate a high potential of recurrence or metastasis and poor prognosis. Tissue microarray technique is applicable for retrospective studies of large sample size.

Adult ; Cadherins ; biosynthesis ; genetics ; Extremities ; Female ; Humans ; Male ; Middle Aged ; Neoplasm Metastasis ; Prognosis ; Sarcoma, Synovial ; metabolism ; pathology ; Soft Tissue Neoplasms ; metabolism ; pathology ; Tissue Array Analysis ; beta Catenin ; biosynthesis

Flow cytometric DNA analysis was performed on 17 rhabdomyosarcomas in conjunction with a histopathological review to determine the usefulness of this technique to predict the biologic behavior of the tumor and to establish the characteristic ploidy pattern of rhabdomyosarcoma compared to other small round cell tumors occurring in childhood. Aneuploidy including near-tetraploidy is the most common ploidy pattern encountered, followed by multiploidy and diploidy, and the presence of multiploidy in this tumor is useful for differentiating rhabdomyosarcoma from other kinds of small round cell tumors in which there are rare previous reports on occurrence of multiploidy. Even though there is no significant correlation between ploidy pattern and histologic type of rhabdomyosarcoma, patients with multiploid tumors or aneuploid tumors with a DNA index of 1.10-1.80 tend to have a high risk of treatment failure. Therefore, the ploidy pattern seems to be useful for predicting the patient's survival in concert with other variables.
Adolescent ; Child ; Child, Preschool ; DNA, Neoplasm/*analysis ; Female ; Flow Cytometry ; Human ; Immunohistochemistry ; Male ; Ploidies ; Retrospective Studies ; Rhabdomyosarcoma/*genetics/mortality ; Soft Tissue Neoplasms/*genetics/mortality ; Support, Non-U.S. Gov't

Adolescent ; Child ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Leg ; Male ; Paraffin Embedding ; Sarcoma, Synovial ; diagnosis ; genetics ; pathology ; Soft Tissue Neoplasms ; diagnosis ; genetics ; pathology ; Translocation, Genetic

Objective: To investigate the clinicopathological features and differential diagnoses of paratesticular liposarcoma. Methods: The cases were collected from 2012-2020, from the archives of the Department of Pathology, Peking University Third Hospital, with diagnosis confirmed by histology, immunostaining and FISH tests. Results: Totally 19 patients were enrolled (including 11 in-hospital patients and 8 consultant cases). The patients aged 37-84 years (mean 57 years). The preoperative clinical diagnoses were spermatic cord/inguinal masses (nine patients), scrotal masses (seven patients), and inguinal hernia (three patients). Six lesions recurred after local resection, including one case extending from pelvic liposarcoma. Histologically, there were 10 cases of well-differentiated liposarcoma (WDLPS) and nine cases of dedifferentiated liposarcoma (DDLPS). WDLPSs mostly showed the combined features of lipoma-like, inflammatory and sclerosing subtypes (six patients); the other four WDLPSs had pure lipoma-like subtype features. DDLPSs were low-grade (three patients) or high-grade (six patients), with the morphology resembling myxofibrosarcoma, inflammatory myofibroblastoma, spindle cell sarcoma, pleomorphic undifferentiated sarcoma and pleomorphic liposarcoma. Intense inflammatory cells infiltration was commonly observed in five WDLPSs and two DDLPSs. Ossification was observed in three tumors. Immunohistochemically, the tumors were positive for MDM2 (8/10) and CDK4 (10/10), which were expressed in lipo-differentiating cells, spindle cells in WDLPS, and in dediffferentiated components. S-100 was only expressed by lipocytes (10/10). CD34 expression was positive and diffuse in the stromal cells of WDLPSs and focal or diffuse in dedifferentiated areas (10/10). FISH tests with an MDM2 gene probe were positive (12/12). Conclusions: Paratesticular liposarcoma may be overlooked by both clinicians and pathologists. WDLPS and DDLPS predominate, showing various histologic divergences. The presence of amplification of the 12q14-q15 region (containing the MDM2 and CDK4 genes) is helpful for making the correct diagnosis.
Adult ; Genital Neoplasms, Male/surgery* ; Humans ; In Situ Hybridization, Fluorescence ; Liposarcoma/surgery* ; Male ; Proto-Oncogene Proteins c-mdm2/genetics* ; Soft Tissue Neoplasms