Astroblastoma is an extremely rare central nervous system tumor characterized by astroblastic pseudorosettes and vascular hyalinization. Despite these histologic hallmarks, its morphology can vary, occasionally resembling other central nervous system tumors such as ependymoma. A novel tumor entity, astroblastoma, meningioma 1 ( MN1 )-altered, has been identified, featuring MN1 gene rearrangements typically involving BEN-domain containing 2 ( BEND2 ) as a fusion partner.
View Article and Find Full Text PDFApart from the lethal midline carcinoma (NUT carcinoma), NUTM1 translocation has also been reported in mesenchymal tumors, but is exceedingly rare. Here, we describe a series of 8 NUTM1 -rearranged sarcomas to further characterize the clinicopathologic features of this emerging entity. This cohort included 2 males and 6 females with age ranging from 24 to 64 years (mean: 51 y; median: 56 y).
View Article and Find Full Text PDFNTRK-rearranged spindle cell neoplasm occurs predominantly in the superficial or deep soft tissues of extremities or trunk. Occurrence in the visceral organs is extremely rare. Herein, we describe 8 cases of NTRK-rearranged spindle cell neoplasm that arose primarily in the gastrointestinal tract.
View Article and Find Full Text PDFJ Neuropathol Exp Neurol
March 2024
The World Health Organization has updated their classification system for the diagnosis of gliomas, combining histological features with molecular data including isocitrate dehydrogenase 1 and codeletion of chromosomal arms 1p and 19q. 1p/19q codeletion analysis is commonly performed by fluorescence in situ hybridization (FISH). In this study, we developed a 57-gene targeted next-generation sequencing (NGS) panel including 1p/19q codeletion detection mainly to assess diagnosis and potential treatment response in melanoma, gastrointestinal stromal tumor, and glioma patients.
View Article and Find Full Text PDFAims: Nuclear receptor subfamily 1 group D member 1 (NR1D1)-rearranged soft tissue tumour is a newly described entity with an epithelioid morphology and a potential for aggressive behaviour. Largely due to under-recognition, this tumour type has not yet been widely acknowledged. Herein, we report four additional cases to further expand its clinicopathological and molecular spectrum.
View Article and Find Full Text PDFOccurrence of extraskeletal Ewing sarcoma (ES) in the gastrointestinal (GI) tract is extremely rare. Here, we report 25 cases of ES arising primarily in the GI tract with a focus on the clinicopathological and molecular features, differential diagnosis, and biological behavior. Thirteen patients (52%) were male, and 12 (48%) were female with age ranging from 9 to 59 years (mean: 36.
View Article and Find Full Text PDFAnn Diagn Pathol
December 2023
In this study, we present six cases of epithelioid dedifferentiated liposarcoma to further characterize its clinical and pathological features. The patients are all adult men with age at presentation ranging from 46 to 64 years (median 58.5 years).
View Article and Find Full Text PDFBackground: Brain malignancies encompass gliomas and brain metastases originating from extracranial tumours including lung cancer. Approximately 50% of patients with lung adenocarcinoma (LUAD) will eventually develop brain metastases. However, the specific characteristics of gliomas and lung-to-brain metastases (LC) are largely unknown.
View Article and Find Full Text PDFDesmoplastic small round cell tumor (DSRCT) is a rare aggressive malignancy typically originating from the abdominal or pelvic cavity. DSRCT presenting as a primary head and neck tumor has rarely been described in the literature. We present three cases of DSRCT arising in the head and neck to further characterize its clinicopathological features.
View Article and Find Full Text PDFBackground: Considering the molecular heterogeneity of sarcomas and their immunologically quiet character, immunotherapy (e.g., immune checkpoint inhibitors) plays a viable role in only a subset of these tumors.
View Article and Find Full Text PDFWe report 10 additional cases of GLI1-altered mesenchymal tumor to further delineate its clinicopathological and molecular spectrum. There were seven males and three females with a median age of 31 years (range 1.3 ~ 75 years).
View Article and Find Full Text PDFWe present here our experience with 24 cases of pseudomyogenic hemangioendothelioma (PMHE) to further delineate its clinicopathological spectrum. There were 18 males and 6 females with a median age of 28 years (range 10~64 years). Most patients presented with erythematous nodules or papules, with or without pain.
View Article and Find Full Text PDFWe present a case of EWSR1-SMAD3 positive fibroblastic tumor that occurred in a 24-year-old man who presented with a recurrent tumor in the dorsum of his right foot. Magnetic resonance imaging (MRI) demonstrated a subcutaneous nodule located in the third metatarsophalangeal joint region, measuring 10 × 8 × 5 mm in size. Histological examination revealed a monomorphic spindle cell tumor composed of cellular fascicles of bland fibroblasts with hyalinization.
View Article and Find Full Text PDFWe present our experience with ten cases of lipofibromatosis-like tumour (LPF-NT) to further characterise this newly described neoplasm. There were six males and four females with a mean age of 12.8 years (range 2-37 years).
View Article and Find Full Text PDFAngiosarcoma is a rare soft tissue sarcoma, and the data about its clinicopathological features and prognostic factors are limited. The purpose of the present study was to report a large series of angiosarcoma at a single institution. Clinical data from 200 cases of angiosarcoma from the Shanghai Cancer Center (Shanghai, China) between March 2006 and March 2014 were retrospectively analyzed.
View Article and Find Full Text PDFThe aim of this study was to present our experience with primary breast angiosarcoma (PBA) by describing a large series of cases with an emphasis on clinicopathologic and radiologic correlations. Thirty-six cases of PBA diagnosed at our institution between 2006 and 2014 were retrospectively evaluated. All but one case occurred in women with a median age of 35.
View Article and Find Full Text PDFAims: To describe an additional series of superficial CD34-positive fibroblastic tumour, a newly described neoplasm, in order to enhance the recognition of an emerging novel entity.
Methods And Results: The clinicopathological features and immunophenotypes of 11 cases of superficial CD34-positive fibroblastic tumour were studied. There were eight males and three females, with a median age of 36 years.
Background: To explore the clinical characteristics and pathological features of epithelioid inflammatory myofibroblastic sarcoma (EIMS) with emphasis on the diagnostic spectrum.
Methods: The clinical data and histological features in 5 additional cases of EIMS were retrospectively reviewed. Immunohistochemical study and interphase fluorescence in situ hybridization (FISH) analysis were carried out.
The aim of this study is to describe the clinicopathologic and radiologic features of 40 cases of extraskeletal myxoid chondrosarcoma (EMC) from China. There were 25 males and 15 females (sex ratio, 1.7:1).
View Article and Find Full Text PDFZhonghua Bing Li Xue Za Zhi
January 2016
Objective: To investigate clinicopathologic features, pathologic diagnosis, differential diagnosis and biological behavior of epitheioid myxofibrosarcoma (EMFS).
Methods: The clinical and pathological data of 10 cases were collected, and microscopic examination and immunostains were performed along with a review of the literatures.
Results: There were 5 males and 5 females with age ranging from 53 to 74 years, and the mean and median age was 63.
Zhonghua Bing Li Xue Za Zhi
September 2015
Zhonghua Bing Li Xue Za Zhi
July 2015
We present our experience with seven cases of epithelioid rhabdomyosarcoma (RMS) to further characterise its clinicopathological features. There were five males and two females with ages ranging from 19 to 84 years (mean 56 years). Four tumours occurred in the somatic soft tissue, two in organs and one in the bone.
View Article and Find Full Text PDFBackground: We describe a case of malignant perivascular epithelial cell tumor (PEComa) arising primarily in the distal left femur of a 47-year-old male.
Case Presentation: The patient presented with pain accompanied by progressive swelling of his left thigh. Computed tomography (CT) scan and magnetic resonance imaging (MRI) revealed an osteolytic lesion.
Our aim is to describe the largest series of nodular fasciitis (NF) with emphasis on the clinicopathologic and radiologic correlation. A total of 272 cases of NF were diagnosed between 2004 and 2014 at our institution. There were 160 males and 112 females with age ranging from newborn to 77 years (mean, 36 years).
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