Extraskeletal Intramuscular Chondroma of the Knee - Case Report and Review of the Literature.

Extraskeletal chondromas are small nodular cartilaginous lesions not attached to bone or the periosteum. They are rare tumors commonly occurring in the hands and feet. The objective of the present study is to describe a case of extraskeletal intramuscular chondroma (EIC) in the left knee and the diagnostic challenges faced by us. A 25-year-old female patient presented with slow-growing swelling in the left knee for 2 years. Clinically, the swelling was arising from the quadriceps muscle. We considered possibilities such as rhabdomyoma, neurofibroma, and intramuscular lipoma. Imaging studies suggested a benign fatty tumor. She was treated by excision. Microscopy was consistent with EIC without recurrence. A rare entity, clinically, EIC can mimic other benign soft-tissue tumors. Histopathology exams can provide a definitive diagnosis. The excision of the tumor is curative.

Laryngeal chondromas: Current knowledge and future directions.

Objective: Cartilaginous tumors of the larynx are rare, representing less than 1% of all laryngeal tumors. Chondromas are benign mesenchymal tumors characterized by a slow-paced growth, primarily originated in the cricoid cartilage, followed by the thyroid, arytenoid, and epiglottic cartilages. This scoping review aims to understand the extent of evidence on the epidemiology, clinical characteristics, morbidity, and recurrence of the laryngeal chondroma (LC). Data sources: MEDLINE (Ovid), Embase (Elsevier), Web of Science (Clarivate), Cochrane Central Register of Controlled Trials and Systematic Reviews, Lilacs, Scopus, and Google Scholar databases. Review methods: The scoping review was conducted from 1816 to 2023, for observational studies describing LC. Titles and abstracts were screened for relevance, followed by an evaluation of the full text for eligibility. The data were collected from the qualifying articles, and a narrative summary of the outcomes was prepared. Results: One hundred and nineteen studies met the inclusion criteria. Ninety-four case reports, 22 case series, and 3 cohorts. Two hundred and four participants with a diagnosis of LC were described. Male:female ratio was 2.8:1. The most common localization was the cricoid (113; 47.08%), followed by the thyroid (45; 18.75%), and the arytenoid cartilage (27; 11.25%). Dyspnea (78.85%) and hoarseness (74.28%) were the most reported symptoms. The recurrence rate was 11.25%, and complications were uncommon following the resection. Conclusion: This scoping review found a low-frequency rate over all the cartilaginous laryngeal tumors. Most patients were treated with resection, with a low rate of malignancy conversion. This population has low attributable mortality, morbidity, and recurrence according to the current literature.

Atypical Presentation of Periosteal Chondroma of the Talus in a 9-Year-Old Boy: A Case Report.

Introduction: ?Introduction: Periosteal chondromas are rare, slow-growing, benign cartilaginous tumors arising from the cortical surface of the bone, beneath the periosteal membrane. Typically affect young males, the most common site being the proximal humerus. There have been no reported cases of periosteal chondroma of the talus in the literature. Case Report: A 9-year-old Indian boy presented with a 1.5-year history of atraumatic right ankle pain and swelling, exacerbated by walking, with limited dorsiflexion. Physical examination revealed a firm, painless swelling on the anterior ankle's talar region, accompanied by equinus deformity. Radiography displayed osseous masses on the anterior talus. Magnetic resonance imaging indicated well-defined osseous growths originating from the talus's anterior aspect, likely osteochondromas, with adjacent osseous fragments in the tibiotalar joint, suggestive of loose bodies, supporting a clinical diagnosis of synovial chondromatosis. Surgical excision revealed whitish, hard, irregular tissue, confirmed as periosteal chondroma on histopathology. After 6 months, the patient is pain-free with unrestricted movement and no clinical or radiological signs of recurrence. Conclusion: This case report presents a unique instance of previously unreported talus periosteal chondroma, adding novelty to medical literature. It details the diagnostic challenges and its intricacies. It provides a comprehensive overview of clinical presentation, imaging and histopathological findings, differentials and provisional diagnosis, surgical approach, and post-operative outcomes. The successful surgical management, along with the specific details of the surgical procedure (anteromedial approach, excision, and curettage), adds practical insights for orthopedic surgeons and contributes to the existing knowledge on treatment strategies for talus periosteal chondroma. This report will serve as an excellent educational resource.

Intracranial extra-axial chondromas: clues to computed tomography and magnetic resonance imaging diagnosis.

AIM: We aimed to describe the computed tomography (CT) and magnetic resonance (MR) imaging findings of intracranial extra-axial chondroma. MATERIAL AND METHODS: We retrospectively evaluated the imaging findings of CT and MR examinations of six patients (three men and three women, aged 21-66 years) with histopathological diagnoses of intracranial extra-axial chondroma. RESULTS: Four tumors were located in the frontal region and two in the cavernous sinus. All the tumors showed low signals on diffusion-weighted images and high signals on apparent diffusion coefficient maps without restricted diffusion. There was no perifocal edema in all the tumors. Cavernous sinus chondromas were associated with bone erosion and anterior displacement of the internal carotid arteries, but without calcification. Calcification was present in all frontal chondromas. All the tumors revealed low signals on T1-weighted MR images. Frontal chondromas revealed mixed signals, but cavernous sinus chondromas were brightly hyperintense on T2-weighted MR images. No enhancement was detected in the two chondromas. An intense homogeneous enhancement was detected in a cavernous sinus chondroma. CONCLUSION: The imaging appearances of frontal extra-axial chondromas and cavernous sinus chondromas may have different imaging appearances. Although there is a wide range of imaging findings, the absence of restricted diffusion, perifocal edema, enhancement, and presence of low signals on T1-weighted MR images in a well-circumscribed calcified extra-axial mass should suggest an intracranial chondroma.

A retrospective external validation study of the Birmingham Atypical Cartilage Tumour Imaging Protocol (BACTIP) for the management of solitary central cartilage tumours of the proximal humerus and around the knee.

OBJECTIVES: This study aimed to externally validate the Birmingham Atypical Cartilage Tumour Imaging Protocol (BACTIP) recommendations for differentiation/follow-up of central cartilage tumours (CCTs) of the proximal humerus, distal femur, and proximal tibia and to propose BACTIP adaptations if the results provide new insights. METHODS: MRIs of 123 patients (45 ± 11 years, 37 men) with an untreated CCT with MRI follow-up (n = 62) or histopathological confirmation (n = 61) were retrospectively/consecutively included and categorised following the BACTIP (2003-2020 / Ghent University Hospital/Belgium). Tumour length and endosteal scalloping differences between enchondroma, atypical cartilaginous tumour (ACT), and high-grade chondrosarcoma (CS II/III/dedifferentiated) were evaluated. ROC-curve analysis for differentiating benign from malignant CCTs and for evaluating the BACTIP was performed. RESULTS: For lesion length and endosteal scalloping, ROC-AUCs were poor and fair-excellent, respectively, for differentiating different CCT groups (0.59-0.69 versus 0.73-0.91). The diagnostic performance of endosteal scalloping and the BACTIP was higher than that of lesion length. A 1° endosteal scalloping cut-off differentiated enchondroma from ACT + high-grade chondrosarcoma with a sensitivity of 90%, reducing the potential diagnostic delay. However, the specificity was 29%, inducing overmedicalisation (excessive follow-up). ROC-AUC of the BACTIP was poor for differentiating enchondroma from ACT (ROC-AUC = 0.69; 95%CI = 0.51-0.87; p = 0.041) and fair-good for differentiation between other CCT groups (ROC-AUC = 0.72-0.81). BACTIP recommendations were incorrect/unsafe in five ACTs and one CSII, potentially inducing diagnostic delay. Eleven enchondromas received unnecessary referrals/follow-up. CONCLUSION: Although promising as a useful tool for management/follow-up of CCTs of the proximal humerus, distal femur, and proximal tibia, five ACTs and one chondrosarcoma grade II were discharged, potentially inducing diagnostic delay, which could be reduced by adapting BACTIP cut-off values. CLINICAL RELEVANCE STATEMENT: Mostly, Birmingham Atypical Cartilage Tumour Imaging Protocol (BACTIP) assesses central cartilage tumours of the proximal humerus and the knee correctly. Both when using the BACTIP and when adapting cut-offs, caution should be taken for the trade-off between underdiagnosis/potential diagnostic delay in chondrosarcomas and overmedicalisation in enchondromas. KEY POINTS: • This retrospective external validation confirms the Birmingham Atypical Cartilage Tumour Imaging Protocol as a useful tool for initial assessment and follow-up recommendation of central cartilage tumours in the proximal humerus and around the knee in the majority of cases. • Using only the Birmingham Atypical Cartilage Tumour Imaging Protocol, both atypical cartilaginous tumours and high-grade chondrosarcomas (grade II, grade III, and dedifferentiated chondrosarcomas) can be misdiagnosed, excluding them from specialist referral and further follow-up, thus creating a potential risk of delayed diagnosis and worse prognosis. • Adapted cut-offs to maximise detection of atypical cartilaginous tumours and high-grade chondrosarcomas, minimise underdiagnosis and reduce potential diagnostic delay in malignant tumours but increase unnecessary referral and follow-up of benign tumours.

Extraskeletal chondroma of the toe in a child with DICER1 tumor predisposition syndrome: support for a dominant negative mechanism.

DICER1 tumor predisposition syndrome is a pleiotropic disorder that gives rise to various mainly pediatric-onset lesions. We report an extraskeletal chondroma (EC) of the great toe occurring in a child who, unusually, carries a germline "hotspot" missense DICER1 variant rather than the more usual loss-of-function (LOF) variant. No heterozygous LOF allele was identified in the EC. We demonstrate this variant impairs 5p cleavage of precursor-miRNA (pre-miRNA) and competes with wild-type (WT) DICER1 protein for pre-miRNA processing. These results suggest a mechanism through which a germline RNase IIIb variant could impair pre-miRNA processing without complete LOF of the WT DICER1 allele.

Giant skull base periosteal chondroma treated with endonasal endoscopic surgery: illustrative case.

BACKGROUND: Intracranial chondroma is an extremely rare type of tumor composed of mature hyaline cartilaginous tissues. No previous cases of skull base periosteal chondroma have been presented. OBSERVATIONS: A 31-year-old male had progressive memory loss and diminished motivation for the previous 1.5 years. Magnetic resonance imaging revealed a giant tumor with partial calcification arising from the upper clivus and extending to the prepontine cistern. Compression of the brainstem and hypothalamus was significant. Surgery was performed and intentionally limited to an intracapsular resection with endoscopic endonasal surgery (EES), and the brainstem and hypothalamus were successfully decompressed. Pathological examination findings showed a composition of hyaline cartilage with chondrocyte clusters. Genetic testing with next-generation sequencing indicated alternations in IDH1 R132C, KDR Q472H, IDH2 I142L, and TP53 P72R. On the basis of these findings, a diagnosis of periosteal chondroma was made. Postoperatively, complete relief from all symptoms was noted, and MRI one year later showed no evidence of tumor regrowth. LESSONS: This is the first known report of skull base periosteal chondroma. Genetic testing was useful for confirming the diagnosis, and EES was effective for treatment. Should such a tumor show adhesion to an important structure, an intracapsular excision can be beneficial for avoiding complications.

Calcified Chondroid Mesenchymal Neoplasms.

Calcified chondroid mesenchymal neoplasms (CCMN) represent a morphologic spectrum of related tumors. Historically, chondroid matrix or chondroblastoma-like features have been described in soft tissue chondroma, tenosynovial giant cell tumors (especially of the temporomandibular joint (TMJ) region), and in a subset of tophaceous pseudogout. Recently, these tumors have been found to share FN1-receptor tyrosine kinase (RTK) fusions. This review discusses the clinical, morphologic, immunohistochemical, and molecular genetic features of CCMN. The distinction from morphologic mimics is also discussed.

Expanding the spectrum of tyrosine kinase fusions in calcified chondroid mesenchymal neoplasms: Identification of a novel PDGFRA::USP8 gene fusion.

Calcified chondroid mesenchymal neoplasms represent a distinct, and recently recognized, spectrum of tumors. To date most cases have been reported to be characterized by FN1 gene fusions involving multiple potential tyrosine kinase partners. Following incidental identification of a tumor morphologically corresponding to calcified chondroid mesenchymal neoplasm, but with a PDGFRA::USP8 gene fusion, we undertook a retrospective review to identify and characterize additional such cases. A total of four tumors were identified. Each was multilobulated and composed of polygonal-epithelioid-stellate cells with a background of chondroid matrix containing distinctive patterns of calcification. Targeted RNA sequencing revealed an identical PDGFRA (exon 22)::USP8 (exon 5) gene fusion in each case. Subsequent immunohistochemical staining confirmed the presence of PDGFRα overexpression. In summary, we report a series of four tumors within the morphologic spectrum of calcified chondroid mesenchymal neoplasms. In contrast to prior reports, these tumors harbored a novel PDGFRA::USP8 gene fusion, rather than FN1 rearrangement. Our findings expand the molecular diversity of these neoplasms, and suggest they are united through activation of protein kinases.

Rare Case of a Clival Chondroma Resulting in Panhypopituitarism.

Chondromas are rare benign tumors composed of hyaline cartilage that can arise in various locations in the body. Their occurrence in the clivus, leading to panhypopituitarism, is exceptionally rare. This case report describes a 93-year-old female with a known clival chondroma who presented with altered mental status, presumed to be secondary to toxic metabolic encephalopathy due to an infectious cause. Further diagnostic evaluation revealed pituitary hormone levels below the normal range. This case report aims to highlight a unique case of panhypopituitarism attributed to a chondroma in the clivus with tumor extension to the sellar region, emphasizing the diagnostic challenges and treatment options for this unusual pathology.

Posttraumatic extraskeletal chondroma of the posterior neck: A systematic literature review on a rare finding and report of a case.

Extraskeletal chondromas (EC) are uncommon, benign cartilaginous tumours. Most common locations are upper and lower extremities. Location in the neck is extremely rare and reported only within the anterior compartment. Data are limited to just four case reports in the paediatric population. The first case of EC in neck's posterior compartment is described herein. EC present peculiar features on imaging. Aetiology is unclear; however, trauma has been suggested as possible causative mechanism. Treatment of choice is surgical excision; recurrence is not uncommon, but additional removal seems to be resolutive. All cases in literature were asymptomatic, except for one presenting respiratory stridor. The present patient suffered from neck functional limitation and upper limb hypoesthesia. Symptoms improved after surgery in both cases. Imaging follow-up at 6 months in the present case showed no sign of recurrence. ECs are rare, benign lesions. However, they may be preoperatively misinterpreted as more malignant counterparts (both radiologically or histologically), so accurate diagnostic work-up and planning of the surgical procedure are essential.

Eyelid Soft Tissue Chondroma: A Case Report.

Soft tissue chondromas are rare benign tumors that occur in extraosseous and extra-synovial locations. We report herein a rare presentation of eyelid soft tissue chondroma in a 45-year-old male presented with a 2-year history of a slowly enlarging subcutaneous firm mass on the left upper eyelid, and complete excision of the lesion followed by histopathological examination rendered the diagnosis of soft tissue chondroma.

Surgical Resection of Nasal Chondroma via open Rhinoplasty Approach: A rare case Presentation and Review of Literature.

Chondromas are benign tumors composed of mature hyaline cartilage tissue with well-defined boundaries that are commonly localised in the extremities with very few cases described in the head and neck region. We present a case of 57-year-old patient who consulted a specialist for an examination due to a change in the tip of the nose that persisted for the past 2 years. The clinical exam revealed a firm, tumor-altered tip of the nasal pyramid, with hyperemia of the skin above the mass. Biopsy was taken under local anesthesia; the histopathology analysis indicated a mesenchymal tumor producing the chondroid matrix suggestive of nasal type chondroma. Computerized tomography showed an ovoid, moderately inhomogeneous, sharply limited formation measuring 21 × 18 × 24 mm present mediosagitally at the top of the nasal pyramid. After preoperative preparation, the surgery was performed by open rhinoplasty approach. Tumor was completely excised with reconstruction of nasal septum and alar cartilage. Supplementary Information: The online version contains supplementary material available at 10.1007/s12070-023-03661-0.

Extremely Rare Case of Extra Skeletal Soft Tissue Chondroma of Masseteric Space: a Diagnostic Challengel.

Benign soft tissue chondroma is a rare type of extraskeletal chondrocytic tumour. It usually can be found in skeletal system in extremities. Head and neck region is one of the most uncommon sites for extraskeletal chondroma .Most common site is tongue and there has been paucity of cases arising from the other subsites .We present a case of 56 years gentleman who came to our OPD with a right masticator space swelling. It was nonmalignant on FNAC. He underwent wide local excision through a transparotid approach. Final biopsy & IHC report showed presence of benign chondrocytic neoplasm- soft tissue chondroma (extraskeletal). No further therapy was used and he has been in follow up since then. To our knowledge ,this is the third reported case of masseteric space chondroma. Supplementary Information: The online version contains supplementary material available at 10.1007/s12070-023-03705-5.

Nasal chondrogenic tumors: Case reports of primary chondroma and recurrence of atypical cartilaginous tumor (chondrosarcoma grade I) with review of the literature.

Nasal chondromas and nasal atypical cartilaginous tumors (or chondrosarcoma grade 1) are very rare chondrogenic tumors. Approximately 150 cases of nasal chondroma and fewer than 50 cases of nasal atypical cartilaginous tumors have been described. We reported a case with nasal chondroma in the right ethmoid area and a case with a nasal atypical cartilaginous tumor of the anterior septum. No chondroma recurrence was noted for 17 years after endoscopic resection. Recurrence was noted for the nasal atypical cartilaginous tumor 36 months after wide surgical excision via midfacial degloving. Revision surgery was performed again via midfacial degloving. Recurrences of nasal chondroma and atypical cartilaginous tumors are extremely rare. The current data indicate adequate surgical excision, in some cases even radical, as the most important parameter to avoid recurrence. For inoperable recurrent cases of atypical cartilaginous tumors, observation may be followed.

A rare presentation of Maffucci syndrome: A case report and literature review.

Maffucci syndrome is an extremely rare disease which can manifest symptoms as early as childhood. It is estimated that there have been <300 cases reported globally; however, this number is likely to be an underestimate. Maffucci syndrome is characterized by multiple enchondromas and soft tissue hemangiomas, which can cause growth and developmental malformations. In addition to bone deformities, pathological fractures and a loss of mobility, patients with Maffucci syndrome may develop secondary central chondrosarcoma and have a higher risk of developing non-skeletal malignant tumors, such as gliomas and mesenchymal ovarian tumors. The present study provides information for clinicians about this disease through the use of imaging, physical examinations, clinical manifestations and the treatment strategy used. There is need to summarize the existing cases of this disease around the world and produce an effective framework for the diagnosis, treatment and prevention of Maffucci syndrome, in order to better understand this disease. The present study reports on a 15-year-old male diagnosed with Maffucci syndrome. . Due to the risk of malignant tumor development in the absence of effective treatment, regular and careful observation through monitoring of tumor markers and imaging studies is important for patients with Maffucci syndrome. As cases of this disease are rare and case data is limited, it is difficult to create a clear treatment plan. There is an urgent need to establish a case database of Maffucci syndrome patients and explore its pathogenesis for early diagnosis, treatment and prevention of disease.