Soft Tissue Chondroma Research Articles

Comprehensive Molecular Characterization of a Large Series of Calcified Chondroid Mesenchymal Neoplasms Widening Their Morphologic Spectrum.

Recently, FN1 fusions to receptor tyrosine kinase genes have been identified in soft tissue tumors with calcified chondroid matrix named calcifying chondroid mesenchymal neoplasms (CCMNs). We collected 33 cases of CCMN from the French network for soft tissue and bone tumors. We performed whole-exome RNA sequencing, expression analysis, and genome-wide DNA methylation profiling in 33, 30, and 20 cases of CCMN compared with a control group of tumors, including noncalcified tenosynovial giant cell tumor (TGCT). Among them, 15 cases showed morphologic overlap with soft tissue chondroma, 8 cases with tophaceous pseudogout, and 10 cases with chondroid TGCT. RNA-sequencing revealed a fusion of FN1 in 76% of cases (25/33) with different 5' partners, including most frequently FGFR2 (14 cases), TEK or FGFR1. Among CCMN associated with FGFR1 fusions, 2 cases had overexpression of FGF23 without tumor-induced osteomalacia. Four CCMN had PDGFRA::USP8 fusions; 3 of which had histologic features of TGCT and were located in the hip, foot, and temporomandibular joint (TMJ). All cases with FN1::TEK fusion were located at TMJ and had histologic features of TGCT with or without chondroid matrix. They formed a distinct cluster on unsupervised clustering analyses based on whole transcriptome and genome-wide methylome data. Our study confirms the high prevalence of FN1 fusions in CCMN. In addition, through transcriptome and methylome analyses, we have identified a novel subgroup of tumors located at the TMJ, exhibiting TGCT-like features and FN1::TEK fusions.

Synovial hemangioma presenting with chronic painful infrapatellar mass: a case report

BackgroundSynovial hemangiomas are rare benign vascular anomalies surrounded by a synovial lining and were first described by Bouchut in 1856. These neoplasms can develop in the intra-articular region, resulting in effusions and knee pain. However, their cause remains unknown. Prompt diagnosis and intervention are critical to prevent chondral damage. Histopathological examination is used to achieve the diagnosis, which is often delayed because of a lack of specific clinical signs. This report describes a unique case in which a painful infrapatellar mass was diagnosed as a synovial hemangioma. The absence of typical magnetic resonance imaging (MRI) findings highlights the importance of arthroscopic excision for diagnosis and symptom relief.Case presentationA 20-year-old woman presented with persistent anterior left knee pain that became exacerbated when she climbed stairs. Despite previous pain management and physical therapy, she developed a painful lump beneath her patella that worsened over time. She had also undergone arthrocentesis, but this did not relieve her pain. Physical examination revealed a palpable, immobile 5-cm mass along the patellar tendon with limited knee flexion and extension and normal ligament stability. T1-weighted fat-saturated MRI of the left knee with gadolinium-based contrast revealed a lobulated intra-articular mass in Hoffa’s fat pad that resembled a soft tissue chondroma. A biopsy of the mass was performed to provide histopathological evidence, confirming the benign nature of the mass. The subsequent excisional arthroscopy, combined with incision enlargement for mass removal, confirmed the histopathologic diagnosis of synovial hemangioma based on the presence of numerous dilated blood vessels and venous proliferation within sections of the synovium. Recovery was complete, and no residual tumor was detected on follow-up MRI after 1 year.ConclusionThis case study emphasizes the importance of arthroscopic excision over open surgery for patients with synovial hemangioma. The minimally invasive nature of arthroscopy combined with the well-encapsulated nature and location of the mass facilitates complete resection.

Case Study: Subclavicular Extraosseous Chondroma

Extraosseous chondroma is a rare soft tissue tumor composed of hyaline cartilage with no connection to bone or periosteum. Chondroid lesions present radiological aspects that are common for benign lesions and conventional low-grade chondrosarcomas. The differentiation is not always possible and should be considered a meticulous clinical and pathologic imaging. It can sometimes be misdiagnosed as a synovial cyst or a more serious condition such as synovial sarcoma. We present the case of a 14-year-old soccer player, presented to the trauma and orthopedic service of the Center of Medical Excellence in Height (CEMA by FIFA) with a history of 4 years ago with a solid abnormality characteristic located in the right subclavicular area. An ultrasound study was requested, which reported a lobulated, hypoechoic subcutaneous nodule, with acoustic reinforcement and without vascularity with Doppler. At radiographic level, normal soft tissue is shown, without nodular lesions. The nodule was surgically removed, then, was sent to histopathology study, which reported: Fibroadipose tissue of the periclavicular region with changes compatible with soft tissue chondroma -extra-skeletal- without lesion on the resection edges. In addition, a literature review was made focused on the search for subclavicular extraosseous chondromas, finding no case in the literature, for which this report was made, due to the strange location of the chondroma.

Subungual Osteochondromas of the Toe: Two Case Reports for Diagnosis and Treatment.

Benign cartilaginous tumors, known as chondrogenic tumors, show cartilage components in the microscopic diagnosis. We present two clinical cases with cartilaginous tumors of the toes showing distinctive clinical manifestations. Two juvenile patients visited our outpatient clinic due to tumors with toenail deformities. A 10-year-old girl presented with a palpable mass with a nail deformity on the left third toe. The initial pathology report was soft tissue chondroma until complete resection. Another 15-year-old male patient visited the dermatology department with a toenail deformity and underwent a punch biopsy. The pathology report was fibrosis with myxoid degeneration. Excisional biopsies were performed for both patients. In the operative field, we observed exophytic tumors connected to the distal phalangeal bones. The final pathology reports were subungual osteochondroma on both patients. The specimen exhibited mature bone trabeculae with a focal cartilaginous cap. Benign cartilaginous tumors have a slow, progressive course and do not show significant symptoms. However, tumors in subungual areas are accompanied by toenail deformities and they can cause pain. Their clinical characteristics lead to a delayed diagnosis. Surgeons can be confused between soft tissue and chondrogenic tumors. When they conduct physical examinations, these categories should be considered in the differential diagnosis.

Periarticular soft tissue chondroma around the knee and shoulder joint – report of 2 cases

Soft tissue chondroma is a rare benign cartilaginous tumor with a typical localization in the hands and feet. The periarticular development of the tumor, combined with its non-specific radiographic manifestation, can lead to serious diagnostic difficulties. We present 2 clinical cases of periarticular soft tissue chondroma, diagnosed and treated in our clinic within the last 2 months.

Tumeurs des tissus mous avec fusion du gène FN1 (Fibronectine 1)

Translocations involving FN1 gene have been described in several tumours, which share the presence of a cartilaginous matrix with or without calcifications and a good prognosis. They encompass: soft tissue chondroma, synovial chondromatosis, calcifying aponeurotic fibroma, phosphaturic mesenchymal tumour and a new spectrum of tumours: "the calcified chondroid mesenchymal neoplasms". We review all the clinical, histopathological and molecular data of these tumours and discuss the differential diagnoses.

Soft tissue chondroma of the plantar foot in a 14-year-old boy: a case report.

Introduction and importanceSoft tissue chondroma is a rare benign tumor with a predilection for hands and feet. The incidence is only about 1.5% of all benign tumors and this neoplasm is rarely seen in the paediatric population. In this paper we report the case of a 14-year-old boy treated for a soft tissue chondroma located next to the left foot second metatarsal.Case presentationA 14-year-old boy presented with a slowly growing plantar swelling of the left foot. The mass was solid, mobile, measuring 4 cm and located in soft tissues opposite of the left foot second metatarsal. Magnetic resonance imaging was performed and revealed a mass measuring 37 ∗ 27 mm with regular seams, on iso-signal T1 and hyposignal T2 without any skeletal connection. A marginal excision of the mass was performed and the postoperative time was uneventful.Clinical discussionThe clinical presentation of soft tissue chondroma is generally not specific which makes the diagnosis mostly challenging. Magnetic resonance imaging is the most performed paraclinical examination that allows a better analysis of the lesion. A surgical excision of the tumor is the treatment of choice.ConclusionSoft tissue as a primary site of chondroma is a rarely reported localisation and this neoplasm should be kept in mind as a possible diagnosis face to any plantar mass in childhood.

Calcified chondroid mesenchymal neoplasms with FN1-receptor tyrosine kinase gene fusions including FGFR2, FGFR1, MERTK, NTRK1, and TEK: a molecular and clinicopathologic analysis.

Translocations involving FN1 have been described in a variety of neoplasms that share the presence of a cartilage matrix and may also contain a variable extent of calcification. Fusions of FN1 to FGFR1 or FGFR2 have been reported in nine soft tissue chondromas, mostly demonstrated indirectly by FISH analysis. Delineation of FN1 fusions with various partner genes will facilitate our understanding of the pathogenesis and diagnostic classification of these neoplasms. In this study, we present molecular, clinical, and pathologic features of 12 cartilaginous soft tissue neoplasms showing a predilection for the TMJ region and the distal extremities. We analyzed for gene fusions with precise breakpoints using targeted RNA-seq with a 115-gene panel. We detected gene fusions in ten cases, including three novel fusions, FN1-MERTK, FN1-NTRK1, and FN1-TEK, each in one case, recurrent FN1-FGFR2 fusion in five cases, FN1-FGFR1 in one case, and FGFR1-PLAG1 in one case. The breakpoints in the 5' partner gene FN1 ranged from exons 11-48, retaining the domains of a signal peptide, FN1, FN2, and/or FN3, while the 3' partner genes retained the transmembrane domain, tyrosine kinase (TK) domains, and/or Ig domain. The tumors are generally characterized by nodular/lobular growth of polygonal to stellate cells within a chondroid matrix, often accompanied by various patterns of calcification, resembling those described for the chondroblastoma-like variant of soft tissue chondroma. Additional histologic findings include extensive calcium pyrophosphate dihydrate deposition in two cases and features resembling tenosynovial giant cell tumor (TGCT). Overall, while the tumors from our series show significant morphologic overlap with chondroblastoma-like soft tissue chondroma, we describe findings that expand the morphologic spectrum of these neoplasms and therefore refer to them as "calcified chondroid mesenchymal neoplasms." These neoplasms represent a spectrum of chondroid/cartilage matrix-forming tumors harboring FN1-receptor TK fusions that include those classified as soft tissue chondroma as well as chondroid TGCT.

Evaluating the Readability of Online Patient Education Materials Related to Orthopedic Oncology.

The internet is increasingly used to access patient education materials. The average American reading level has been found to be that of a 7th- to 8th-grade student, prompting the National Institutes of Health (NIH) and the American Medical Association (AMA) to advise that patient education materials be written between the 4th- to 6th-grade reading level. The purpose of this study was to evaluate the reading level of current patient education materials for the most common musculoskeletal oncological tumors. A Google search was performed with all location filters off to account for geographic variability for patient education materials related to 28 orthopedic primary or secondary tumors. All patient education articles from the first 10 website hits for each tumor type were analyzed. Patient education materials from these websites were evaluated using 8 validated readability scales. Patient resources were found to be written at an average grade level nearly double the NIH and AMA recommendation. Patient education materials for soft tissue chondromas were written at the highest level (14.8±1.9), whereas education materials for chordomas (10.1±1.0) most closely approached national recommendations, despite still being written at a readability level nearly 4 grade levels higher than has been recommended. The Flesch Reading Ease assessment provided a mean score of 46.5±7.7, corresponding with a "difficult to read" result. Current patient education materials regarding oncological musculoskeletal-related patient education materials are written significantly above the recommended reading level. Further modification of these resources is warranted to ensure adequate comprehension and informed decision making in the clinical setting. [Orthopedics. 2021;44(1):38-42.].

Recurrent novel THBS1-ADGRF5 gene fusion in a new tumor subtype "Acral FibroChondroMyxoid Tumors".

Acral soft tissue tumors are common neoplasms, a subset of which pose a diagnostic challenge. We report 10 cases of a previously unrecognized acral benign soft tissue tumor. These tumors arose on the fingers and toes and involved bone in half of cases. Histologically, the tumors were lobulated and displayed an abundant stroma made of variable fibrous, chondroid and myxoid material reminiscent of cartilaginous or myoepithelial differentiation. Tumor cells harbored small round to reniform nuclei with clear chromatin and inconspicuous nucleoli along with scant eosinophilic cytoplasm. The cells were mostly arranged haphazardly in the stroma but also in small clusters. No mitotic activity was detected. No specific feature was identified in recurrent cases. By immunohistochemistry, the cells consistently stained for CD34 (10/10), ERG (9/10), and SOX9 (7/10). Whole RNA sequencing identified a previously undescribed recurrent in frame THBS1-ADGRF5 gene fusion in all cases. The transcript was confirmed by RT-PCR and was not found in the control group of mimickers including soft tissue chondromas. We propose the name of Acral FibroChondroMyxoid Tumors for this new entity.

A case report of soft tissue chondroma of the hand

A case report of soft tissue chondroma of the hand

Synovial chondromatosis and soft tissue chondroma: extraosseous cartilaginous tumor defined by FN1 gene rearrangement

A fusion between fibronectin 1 (FN1) and activin receptor 2A (ACVR2A) has been reported previously in isolated cases of the synovial chondromatosis. To analyze further and validate the findings, we performed FISH and demonstrated recurrent FN1–ACVR2A rearrangements in synovial chondromatosis (57%), and chondrosarcoma secondary to synovial chondromatosis (75%), showing that FN1 and/or AVCR2A gene rearrangements do not distinguish between benign and malignant synovial chondromatosis. RNA sequencing revealed the presence of the FN1–ACVR2A fusion in several cases that were negative by FISH suggesting that the true prevalence of this fusion is potentially higher than 57%. In soft tissue chondromas, FN1 alterations were detected by FISH in 50% of cases but no ACVR2A alterations were identified. RNA sequencing identified a fusion involving FN1 and fibroblast growth factor receptor 2 (FGFR2) in the case of soft tissue chondroma and FISH confirmed recurrent involvement of both FGFR1 and FGFR2. These fusions were present in a subset of soft tissue chondromas characterized by grungy calcification, a feature reminiscent of phosphaturic mesenchymal tumor. However, unlike the latter, fibroblast growth factor 23 (FGF23) mRNA expression was not elevated in soft tissue chondromas harboring the FN1–FGFR1 fusion. The mutual exclusivity of ACVR2A rearrangements observed in synovial chondromatosis and FGFR1/2 in soft tissue chondromas suggests these represent separate entities. There have been no reports of malignant soft tissue chondromas, therefore differentiating these lesions will potentially alter clinical management by allowing soft tissue chondromas to be managed more conservatively.

What is new about the molecular genetics in matrix-producing soft tissue tumors? -The contributions to pathogenetic understanding and diagnostic classification.

Soft tissue tumors encompass a wide variety of mesenchymal neoplasms exhibiting diverse clinical, pathologic, and molecular features. Among these, osteoid and/or chondroid matrix deposition in some soft tissue tumors represents a noticeable characteristic. Unlike matrices present in bone tumors where they likely reveal the respective cells of origin (i.e., osteoblastic or chondroblastic precursors), those existing in soft tissue tumors more often denote a metaplastic phenomenon and reflect the diversity of differentiation these tumors can display. While many soft tissue tumor types can occasionally harbor metaplastic bone or cartilage as an incidental component or heterologous differentiation, in some other tumor types, the production of these matrices is a frequent and distinctive, if not diagnostic, feature. This review focuses on the latter tumor types where emerging immunohistochemical and molecular evidence has significantly improved our understanding of their respective pathogenesis and histopathological spectra. These tumor types include ossifying fibromyxoid tumor, phosphaturic mesenchymal tumor, synovial chondromatosis, soft tissue chondroma, calcifying aponeurotic fibroma, giant cell tumor of soft tissue, myositis ossificans and related diseases, mesenchymal chondrosarcoma, and extraskeletal osteosarcoma.

Extra skeletal soft tissue chondroma (ESSC) of right thumb- a benign tumour diagnosed by FNAC – a rare case report

Extra skeletal soft tissue chondroma (ESSC) is very rare slowly growing benign tumours usually occur in hands and feet. Lesion must be differentiated from other benign and malignant lesions in these locations by clinical, radiological, cytological and histopathological examination for proper management of such benign entity. A case is presenting here in a thirty five years old lady suffering from similar type of lesion over right thumb diagnosed preoperatively by fine needle aspiration cytology because of rarity. Diagnosis was confirmed by surgical excision and histopathological examination.International Journal of Human and Health Sciences Vol. 02 No. 03 July’18. Page : 164-166

Soft tissue chondroma on the lip: Clinical, histopathological and ultrasonographic findings

Soft tissue chondroma on the lip: Clinical, histopathological and ultrasonographic findings

Chondroblastoma-like chondroma of soft tissue: A report of two cases

Soft tissue chondroma is a benign cartilaginous neoplasm composed of cells with a chondroid phenotype. Chondromas of soft tissue can have variable histological appearances including deposition of calcium, histiocytic reaction, ossification, and myxoid change. One notable variation is the presence of histological features reminiscent of chondroblastoma of the bone, and the term used in this scenario is chondroblastoma-like chondroma of soft tissue. There have been fourteen previous case reports of chondroblastoma-like chondroma of soft tissue, predominantly in the hands; with one case being reported in the base of the skull. We report two cases of chondroblastoma-like chondroma of soft tissue occurring in the hand and foot. To the best of our knowledge this is the first reported case of chondroblastoma-like chondroma of soft tissue in the foot.

Soft Tissue Chondroma—Result of Surgery in a Local Hospital and Review of the Literature: 軟組織軟骨瘤: 地區醫院之手術治療成效及文獻回顧

Background/PurposeThis was a retrospective case series that aimed to study the clinical features and results of surgery for soft tissue chondroma, which is a benign extraskeletal cartilage tumour. MethodsTen patients with a histological diagnosis of soft tissue chondroma were recruited between 2001 and 2012. Tumours involved the hand and wrist (n = 4), foot (n = 3), popliteal fossa (n = 2), and deltoid (n = 1). ResultsThe most common complaints were progressive enlargement of the size of the mass (50%) and pain (50%). Radiographs showed calcified soft tissue mass in 90% of cases. Marginal excision was performed. The mean follow-up duration was 27.6 months. There was one suspected recurrence case with a mass over the index finger. Surgical re-excision was performed and the second histological diagnosis was bizarre parosteal osteochondromatous proliferation. At final follow-up, nine out of ten cases were symptom free. One patient had residual finger joint stiffness and deformity. ConclusionThe results of marginal excisions for soft tissue chondroma is satisfactory with low complication and recurrence rates.

Soft tissue chondroma presenting as a dermal mass in the toe.

Soft tissue chondroma presenting as a dermal mass in the toe.

Soft tissue chondroma: a rare tumor presenting as a cutaneous nodule

Soft tissue chondroma (STC), also known as extraskeletal chondroma or chondroma of soft parts is a benign cartilaginous tumor which arise de novo from soft tissue. Also, it is an extremely rare entity predominantly involving extremities, especially fingers. A 26 year old male presented with 3 year history of swelling in left index finger. On local examination a hard 2 × 2 cm swelling was seen over the volar aspect of left 2nd proximal phalanx. Swelling was mobile on contraction of tendons. X-ray showed a soft tissue shadow on volar aspect of left second proximal phalanx. Histopathology showed a well encapsulated, hypo cellular nodule composed of benign chondrocytes surrounded by hyaline chondroid matrix. Nuclear pleomorphism, mitosis or necrosis was not seen. Based on radiological and histopathological findings a diagnosis of STC was made. STC should be considered in patients with slow growing, soft tissue masses.

A rare case of bladder chondroma.

Soft tissue chondromas are benign tumours that arise commonly in the hands and feet of adults, but rarely in other locations. Only two prior cases of chondroma of the urinary bladder wall have been reported. We describe a third case and discuss similarities and differences between the three cases reported to date.