scholarly journals Novel RGAG1-BCOR gene fusion revealed in a somatic soft tissue sarcoma with a long follow-up

2021 ◽  
Author(s):  
Mauro Vasella ◽  
Ulrich Wagner ◽  
Christine Fritz ◽  
Kati Seidl ◽  
Luca Giudici ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Gene Fusion ◽  
Soft Tissue Mass ◽  
Soft Tissue Tumors ◽  
Rt Pcr ◽  
Tissue Mass ◽  
Myxoid Chondrosarcoma ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

AbstractBCOR-rearranged sarcomas are rare and belong to the Ewing-like sarcomas (ELS). Their morphology and histopathological features make the diagnosis challenging. We present a case, initially diagnosed as an unusual extraskeletal myxoid chondrosarcoma (EMC). A 54-year-old male patient developed an asymptomatic swelling of the lower leg. Imaging showed a 9.5-cm large intramuscular soft tissue mass. Due to its morphological and immunohistochemical profile on biopsy, it was initially diagnosed as an EMC. The patient was treated by complete resection and adjuvant radiotherapy and remained free of tumor at 7 years follow-up. Using next-generation sequencing (NGS), we retrospectively identified RGAG1-BCOR gene fusion (confirmed by RT-PCR), which has not been described in somatic soft tissue tumors so far. This finding broadens the spectrum of partner genes in the BCOR-rearranged sarcomas in a tumor with a well-documented, long clinical follow-up.

Adipocyte-rich CTNNB1-mutated Intramuscular Gardner Fibroma Progressing to Desmoid Fibromatosis

2020 ◽  
pp. 109352662096880
Author(s):  
Andrea Bakker ◽  
Jonathan C Slack ◽  
Mara Caragea ◽  
Kyle C Kurek ◽  
Marie-Anne Bründler
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Tumor ◽  
Soft Tissue Tumors ◽  
Molecular Testing ◽  
Tissue Mass ◽  
Desmoid Fibromatosis ◽  
Benign Soft Tissue Tumor ◽  
First Time ◽  
Generation Sequencing

Gardner fibroma (GF) is a benign soft-tissue tumor that is associated with Gardner syndrome and can progress to, or co-occur with, desmoid fibromatosis (DF). Herein, we report a unique case of an 11-year-old boy who presented with a rapidly growing soft-tissue mass after biopsy of a stable fat-rich lesion present in the calf muscles since infancy, with Magnetic resonance imaging findings suggesting an intramuscular adipocytic tumor. The resection showed GF and DF. DF arising from a preexisting GF (the so-called “GF-DF sequence”) is a well-documented phenomenon. Although immunohistochemistry was negative for nuclear β-catenin expression, a CTTNB1 S45F mutation, which has been associated with aggressive behavior in DF, was identified in both components using a next-generation sequencing-based molecular assay. This is the first time a mutation in CTNNB1 has been identified in GF and the GF–DF sequence, thus expanding our knowledge of the molecular pathogenesis of the GF–DF sequence and highlighting the role of molecular testing in pediatric soft-tissue tumors. The histologic findings of an adipocyte-rich intramuscular GF also are unique, expanding the morphological spectrum of GF and adding GF to the differential diagnosis of intramuscular lesions with an adipocytic component.

scholarly journals Nasal Cavity Ossifying Fibrosarcoma: An Unusual Fibro-Osseous Neoplasm

2010 ◽  
Vol 89 (11) ◽  
pp. E1-E3 ◽  
Author(s):  
Yadiel A. Alameda ◽  
Carlos Perez-Mitchell ◽  
José M. Busquets
Keyword(s):  
Soft Tissue ◽  
Nasal Cavity ◽  
English Language ◽  
Clinical Presentation ◽  
Soft Tissue Mass ◽  
Histopathologic Examination ◽  
Left Nasal Cavity ◽  
Tissue Mass ◽  
Language Literature

We describe the case of a 65-year-old woman who presented with left nasal obstruction. Clinical and radiographic examinations revealed the presence of a soft-tissue mass that had obliterated the left nasal cavity. The mass was completely excised via an endoscopic approach. Histopathologic examination identified the tumor as an ossifying fibrosarcoma. The patient recovered uneventfully and remained free of disease at the 2-year postoperative follow-up. To the best of our knowledge, no case of an ossifying fibrosarcoma of the nasal cavity has been previously reported in the English-language literature. We discuss the features of this case and the clinical presentation, diagnosis, and management of fibrosarcomas of the nasal cavity and paranasal sinuses.

scholarly journals MUSCULOSKELETAL HYDATIDOSIS: REPORT OF TWO СASES AND REVIEW THE LITERATURE

2013 ◽  
Vol 18 (1) ◽  
pp. 39-43
Author(s):  
A. M. Bronstein ◽  
N. A. Malishev ◽  
Yu. A. Legonkov ◽  
G. H. Musaev ◽  
S. N. Jarov ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Mass ◽  
Preoperative Evaluation ◽  
Surgical Excision ◽  
Fine Needle Biopsy ◽  
Soft Tissue Tumors ◽  
Hydatid Cysts ◽  
Tissue Mass ◽  
Life Threatening ◽  
Atypical Localization

Musculoskeletal system is rarely involved by hydatid cyst, the larvalform of Echinococcus granulosus. Two cases of intramuscular hydatid cysts within thigh musculature are being reported with the intent of highlighting this atypical localization of the disease. Preoperative computerized tomography suggested an unusual location of echinococcus. Since the soft tissue tumors may be confused with hydatid cysts, preoperative evaluation of these patients is critical for proper handling during surgery to avoid life-threatening complications. Surgical excision with postoperative antihelmenthics formed the main modality. These cases emphasize that especially in endemic areas to avoid fine-needle biopsy and the risk of spillage of cyst contents hydatidosis should be included in differential diagnosis of any soft tissue mass.

Epithelioid Hyalinizing Sarcoma With MGA-NUTM1 Fusion

2020 ◽  
Vol 154 (6) ◽  
pp. 859-866
Author(s):  
Caroline I M Underwood ◽  
Diana M Cardona ◽  
Rex C Bentley ◽  
Guomiao Shen ◽  
Xiaojun Feng ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Immunohistochemical Study ◽  
Soft Tissue Sarcomas ◽  
Soft Tissue Tumors ◽  
Molecular Testing ◽  
Molecular Alterations ◽  
Poorly Differentiated ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Objectives Soft tissue sarcomas are a group of tumors derived from the mesenchymal origin. Historically, they have been classified according to morphologic and immunohistochemical characteristics. The advent of multiplexed next-generation sequencing (NGS), specifically RNA sequencing, has modified the classification of such tumors and others by determining categorization based on molecular alterations. The NUTM1 rearrangement, previously thought to be present only in carcinomas, has recently been reported in poorly differentiated high-grade sarcomas of the soft tissue. We present the first reported case of an epithelioid hyalinizing sarcoma harboring the MGA-NUTM1 fusion in an acral site. Methods Histopathologic, immunohistochemical, and molecular testing were performed on resection tissue. Results Histologically, the tumor showed an epithelioid morphology with prominent background hyalinization. Immunohistochemically, the tumor expressed CD99 and nuclear NUT-1. By NGS the tumor harbors MGA-NUTM1 fusion. Conclusions Our findings support more extensive use of NGS for accurate sarcoma classification and identification of potential therapeutic targets. Furthermore, they corroborate the fact that NUTM1-rearranged soft tissue tumors represent a spectrum of heterogeneous morphologic entities. This case also highlights the utility of NUT-1 immunohistochemical study as a possible screening tool for NUTM1-fused sarcomas.

Gastric smooth muscle hamartoma in a cat

2010 ◽  
Vol 12 (4) ◽  
pp. 334-337 ◽  
Author(s):  
Thomas J. Smith ◽  
Wendy I. Baltzer ◽  
Craig G. Ruaux ◽  
Jerry R. Heidel ◽  
Patrick Carney
Keyword(s):  
Smooth Muscle ◽  
Soft Tissue ◽  
Soft Tissue Mass ◽  
Clinical Signs ◽  
Surgical Excision ◽  
Endoscopic Examination ◽  
Tissue Mass ◽  
Gastric Smooth Muscle ◽  
Esophageal Sphincter

An 11-year-old cat presented for evaluation of intermittent vomiting, constipation and hyporexia of 3 weeks duration. Ultrasonographic and endoscopic examination revealed a soft tissue mass adjacent to the lower gastro-esophageal sphincter. Surgical excision of the mass was successfully performed resulting in a resolution of clinical signs. Histologically the mass was consistent with a smooth muscle hamartoma. At follow-up 7 months after surgery, the cat remained free from clinical signs.

scholarly journals Tumors and pseudotumors of the soft tissues: Imaging semiology and strategy

2021 ◽  
Vol 11 ◽  
pp. 13
Author(s):  
Charlinne Paixao ◽  
Jean-Philippe Lustig ◽  
Sylvain Causeret ◽  
Loic Chaigneau ◽  
Alexis Danner ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Soft Tissues ◽  
Soft Tissue Mass ◽  
Soft Tissue Tumors ◽  
Benign Tumors ◽  
Imaging Features ◽  
Tissue Mass ◽  
Primary Tumors ◽  
Adipocytic Tumors ◽  
Diagnostic Certainty

The aims of this educational review are to learn the semiological basis of soft-tissue lesions and, with the help of diagnostic algorithms, to apply the current recommendations for the management of soft-tissue tumors. Pseudotumors must first be identified and excluded. Among primary tumors, the search for macroscopic fat content on MRI is decisive; since it restricts the diagnostic range to adipocytic tumors. Key imaging features of non-adipocytic tumors are highlighted. When a deep soft-tissue mass is found, therapeutic abstention or simple monitoring is only appropriate when there is diagnostic certainty: This is only the case for typical pseudotumors, typical benign tumors, and fat tumors without atypical criteria. In all other cases, histological evidence is required. If there is any suspicion of soft-tissue sarcoma or any undetermined lesion, the patient should be referred to a sarcoma referral center before biopsy.

scholarly journals An Approach to Soft Tissue Mass In The Gall Bladder

2019 ◽  
Vol 7 (1) ◽  
pp. 29-34
Author(s):  
Hasina Alam ◽  
Tanvir Ahmed ◽  
Hashim Rabbi ◽  
Md Mamunur Rashid ◽  
Mohammad Ali
Keyword(s):  
Soft Tissue ◽  
Gall Bladder ◽  
Ct Scan ◽  
Soft Tissue Mass ◽  
Curative Surgery ◽  
Tissue Mass ◽  
Stage Ib ◽  
External Biliary Drainage ◽  
Mass Lesions

Background: Soft tissue mass in gall bladder (GB) is a radiologic finding commonly encountered in surgical practice. It needs proper evaluation as there is a fair chance that it can be a malignant lesion. Gall bladder cancer (GBC) is considered an incurable disease with an extremely poor prognosis. However, there is good chance of survival if it can be diagnosed in earlier stages (stage Ib, II, selective III). Methods: All consecutive cases of soft tissue mass lesions of GB found in ultrasonogram of abdomen and admitted in Hepato-Biliary-Pancreatic Surgery (HBPS) unit of BIRDEM hospital, from January 2009- September 2016, were included in this study. Detailed history and thorough clinical examination was done in all cases. Pre-operative evaluations were done by ultrasound, Tumor marker (CA19.9) & CT scan,. CT scan was a crucial investigation for all the patients, as depending on the findings, decision was made whether a patient is eligible for a possible curative surgery or not. On-table frozen section biopsy or imprint cytology was done for tissue diagnosis. Radical resection was done for the histology/ cytology proved malignancy of gallbladder (stage Ib, II, selective III). Post-cholecystectomy patients also underwent full thickness excision of the umbilical port. In benign cases only cholecystectomy was done. Advanced GBC cases underwent FNAC for tissue diagnosis followed by palliative chemotherapy. Some needed endoscopic or surgical palliation in the form of percutaneous external biliary drainage, endobiliary prosthesis, triple bypass, hepaticojejunostomy, left duct anastomosis, gastrojejunostomy, ileotransverse anastomosis, external biliary drainage etc before chemotherapy. All the GBC patients were regularly followed according to a schedule. Results: We are reporting 334 cases of soft tissue mass lesions of GB. Female 191 (57.2%) and male 143 (42.81%), M : F = 1 : 1.3 ,,between the ages of 32 and 88 years. Of these, 81 patients (24.2%) turned out to be benign; another 81 patients (24.2%) were in early stage (Ib, II selective III). The rest of 172 patients (51.5%) showed signs of advanced malignancy in USG & CT scan. Post-operative complications occurred in 27 cases (8.1%). During follow-up, 34 patients (42%) have crossed their 5 years of disease free survival after curative surgery. Rest of the patients (44 cases), after curative surgery, are still under follow-up. The 172 patients in Stage III & IV disease who underwent some sort of palliative procedure, had a mean survival of 7.2 months. Conclusion: Soft tissue mass in gall bladder picked up by imaging has a very high chance to be malignant. Among these malignant patients, a good number has a chance of curative resection if evaluated and managed properly. Bangladesh Crit Care J March 2019; 7(1): 29-34

Malignant Soft Tissue Masses

2019 ◽  
pp. 346-350
Author(s):  
Kevin J. Blount
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Mass ◽  
Imaging Modality ◽  
Diagnostic Delay ◽  
Soft Tissue Tumors ◽  
Imaging Features ◽  
Diagnostic Challenge ◽  
Tissue Mass ◽  
Soft Tissue Masses ◽  
Malignant Soft Tissue

Chapter 66 discusses malignant soft tissue masses. Soft tissue malignancies are less common than those of benign origin but should be in the differential diagnosis for any soft tissue mass. Malignant soft tissue tumors have a wide range of clinical and imaging appearances, which can present a diagnostic challenge. If the imaging features of the soft tissue mass are not entirely characteristic for a benign diagnosis, biopsy should be performed. After initial radiographs, MRI is considered the best imaging modality to characterize malignant soft tissue lesions. Prompt diagnosis is critical because a diagnostic delay is associated with a worse clinical outcome.

Fibro-Osseous Pseudotumor of the Hand

2016 ◽  
Vol 21 (02) ◽  
pp. 269-272 ◽  
Author(s):  
Vasileios A. Kontogeorgakos ◽  
Dionysios J. Papachristou ◽  
Sokratis Varitimidis
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Mass ◽  
Dorsal Surface ◽  
Tissue Mass ◽  
Peripheral Ring ◽  
High Grade Sarcoma ◽  
Soft Tissue Masses ◽  
Web Space ◽  
Ring Core

Fibro-osseous pseudotumor of digits (FOPD) is an uncommon histological diagnosis. Clinical and imaging findings may resemble high-grade sarcoma or infection. We describe a patient with progressive pain and swelling at the dorsal surface of the first web space. MRI and CT imaging revealed an intramuscular heterogenous soft tissue mass defined by a mineralized peripheral ring. Core needle biopsy diagnosed FOPD. Eight months later a matured ossified nodule that was quite smaller than the initial soft tissue mass was excised. The patient is symptom free without local recurrence at 1 year follow up. Soft tissue masses of the hand pose a challenging diagnostic and therapeutic issue. An in depth interpretation of clinical, imaging and histology findings is important to avoid erroneous diagnosis and treatment.

Duodenogastric Intussusception with Concurrent Gastric Foreign Body in a Dog: A Case Report and Literature Review

2013 ◽  
Vol 49 (1) ◽  
pp. 64-69 ◽  
Author(s):  
David A. Allman ◽  
Michael P. Pastori
Keyword(s):  
Abdominal Pain ◽  
Case Report ◽  
Foreign Body ◽  
Soft Tissue ◽  
Soft Tissue Mass ◽  
Foreign Object ◽  
Endoscopic Removal ◽  
Tissue Mass ◽  
Abdominal Radiographs

A 3 yr old spayed female boxer weighing 22.8 kg was presented for severe, acute vomiting and tenesmus. Tachycardia, tachypnea, dehydration, and abdominal pain were present on physical examination. Abdominal radiographs showed a foreign object (golf ball) in the fundus of the stomach, and a larger, round, soft-tissue opacity mass in the region of the pylorus. Endoscopic removal of the foreign object was unsuccessful. A large soft-tissue mass (duodenogastric intussusception) was visualized with endoscopy, but was not correctly diagnosed until surgery. A midline exploratory celiotomy was performed and the duodenogastric intussusception was diagnosed and manually reduced. Severe pyloric wall edema and minimal bruising were present. A routine fundic gastrotomy was performed and the foreign object was removed. A right-sided incisional gastropexy and duodenopexy were performed in attempt to prevent recurrence of the intussusception. The dog was discharged from the hospital 38 hrs after surgery, and was normal on follow-up 1 yr after surgery. The dog in this report is the sixth documented case of duodenogastric/pylorogastric intussusception in the veterinary literature. This is the first reported case with a concurrent gastric foreign body and endoscopic visualization of the intussusception.

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