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Genes, Chromosomes & Cancer Nov 2022Mesenchymal chondrosarcoma (MCS) is a rare translocation-associated sarcoma, driven by a canonical HEY1::NCOA2 fusion. The tumors typically have a biphasic phenotype of...
BACKGROUND
Mesenchymal chondrosarcoma (MCS) is a rare translocation-associated sarcoma, driven by a canonical HEY1::NCOA2 fusion. The tumors typically have a biphasic phenotype of primitive small blue round cells intermixed with hyaline cartilage. The head and neck (HN) region is a common site for MCS, accounting for 12-45% of all cases reported.
AIMS
We assembled a relatively large cohort of 13 molecularly confirmed HN MCS for a detailed clinicopathologic analysis. The underlying fusion events were determined using fluorescence in situ hybridization and/or targeted RNA sequencing.
RESULTS
The median age of presentation was 19 years. Five MCSs (39%) had an intraosseous presentation (skull, maxilla, palate, and mandible), while the remaining eight cases occurred in the brain/meninges, orbit, and nasal cavity. Microscopically, HN MCSs were characterized by primitive round cells arranged in a distinctive nested architecture and a rich staghorn vasculature. A cartilaginous component of hyaline cartilage islands and/or single chondrocytes were present in 69% cases. A combined immunoprofile of CD99(+)/SATB2(+)/CD34(-)/STAT6(-) was typically noted. As this immunoprofile is non-specific, the referral diagnoses in cases lacking a cartilaginous component included Ewing sarcoma family and osteosarcoma. Among the seven patients with follow-up data, three developed distant metastasis and one died of disease.
CONCLUSION
HN MCS may arise at intra- or extra-osseous sites. The HN MCS appears to have a more prolonged survival compared other MCS sites. Testing for HEY1::NCOA2 fusion is recommended in HN tumors with nested round cell morphology and staghorn vasculature that lack a distinctive cartilaginous component.
Topics: Adult; Basic Helix-Loop-Helix Transcription Factors; Cell Cycle Proteins; Child; Chondrosarcoma, Mesenchymal; Female; Gene Fusion; Head and Neck Neoplasms; Humans; In Situ Hybridization, Fluorescence; Male; Nuclear Receptor Coactivator 2; Young Adult
PubMed: 35672279
DOI: 10.1002/gcc.23075 -
Pathology International Apr 2023
Topics: Humans; Chondrosarcoma, Mesenchymal; Oncogene Proteins, Fusion; Bone Neoplasms; Lung
PubMed: 36752330
DOI: 10.1111/pin.13313 -
International Journal of Surgery Case... Feb 2022Chondrosarcomas of the head and neck are extremely rare, accounting for approximatively 0.1% of all head and neck malignant tumors. Mesenchymal chondrosarcomas are...
INTRODUCTION
Chondrosarcomas of the head and neck are extremely rare, accounting for approximatively 0.1% of all head and neck malignant tumors. Mesenchymal chondrosarcomas are particularly aggressive, with a high propensity for recurrence.
CASE REPORT
We report the case of a 25 years old man with no prior medical history, who presented to our facility with an aggressive tumor of the left maxilla. Upon radiologic and histopathological examinations, the tumor was revealed to be a mesenchymal chondrosarcoma. The patient was treated using surgical excision of the tumor, neoadjuvant chemotherapy and adjuvant radiotherapy.
CONCLUSION
Due to the high risk of recurrence and the possibility of metastasis occurring long after the initial diagnosis, it is important that patients with mesenchymal chondrosarcomas receive close and regular follow-ups after treatment.
PubMed: 35074656
DOI: 10.1016/j.ijscr.2021.106696 -
Pathology Aug 2023Mesenchymal chondrosarcoma (MCS) is a rare and highly aggressive tumour of soft tissue and bone that is defined by an underlying and highly specific fusion transcript...
Mesenchymal chondrosarcoma (MCS) is a rare and highly aggressive tumour of soft tissue and bone that is defined by an underlying and highly specific fusion transcript involving HEY1 and NCOA2. Histologically, the tumours show a biphasic appearance consisting of an undifferentiated blue and round cell component as well as islands of highly differentiated cartilage. Particularly in core needle biopsies, the chondromatous component can be missed and the non-specific morphology and immunophenotype of the round cell component can cause diagnostic challenges. We applied NKX3.1 immunohistochemistry which was recently reported as a highly specific marker as well as methylome and copy number profiling to a set of 45 well characterised MCS cases to evaluate their potential diagnostic value. Methylome profiling revealed a highly distinct cluster for MCS. Notably, the findings were reproducible also when analysing the round cell and cartilaginous component separately. Furthermore, four outliers were identified by methylome profiling for which the diagnosis had to be revised. NKX3.1 immunohistochemistry showed positivity in 36% of tumours, the majority of which was rather focal and weak. Taken together, NKX3.1 expression showed a low sensitivity but a high specificity in our analysis. Methylome profiling on the other hand represents a sensitive, specific and reliable tool to support the diagnosis of MCS, particularly if only the round cell component is obtained in a biopsy and the diagnosis is not suspected. Furthermore, it can aid in confirming the diagnosis in case RNA sequencing for the HEY1::NCOA2 fusion transcript is not available.
Topics: Humans; Chondrosarcoma, Mesenchymal; Immunohistochemistry; Epigenome; Bone and Bones; Cell Differentiation; Bone Neoplasms
PubMed: 37225644
DOI: 10.1016/j.pathol.2023.03.003 -
Frontiers in Oncology 2022Craniofacial bones may be the site of origin of various sarcomas. We review the various malignancies affecting this region of the body and attempt to put systemic... (Review)
Review
INTRODUCTION
Craniofacial bones may be the site of origin of various sarcomas. We review the various malignancies affecting this region of the body and attempt to put systemic treatment approaches into perspective.
MATERIAL AND METHODS
Non-systematic literature review.
RESULTS
Conventional types of osteosarcoma, Ewing sarcoma, and chondrosarcoma are the most frequent bone sarcomas occurring in craniofacial region, but variants may occur. The tumors' biologies and the resulting treatment strategies vary distinctly. As a general rule, local control remains paramount regardless of histology. The efficacy of antineoplastic chemotherapy varies by type of malignancy. It is clearly indicated in Ewing sarcoma and related tumors, potentially of benefit in high-grade osteosarcoma, undifferentiated pleomorphic sarcoma, dedifferentiated and mesenchymal chondrosarcoma, and of no proven benefit in the others.
CONCLUSIONS
Various histologies demand various and distinct treatment approaches, with local control remaining paramount in all. The efficacy of systemic treatments varies by type of tumor. Prospective trials would help in all of these to better define systemic treatment strategies.
PubMed: 36158667
DOI: 10.3389/fonc.2022.966073 -
Scandinavian Journal of Surgery : SJS :... Sep 2023Primary sarcomas of bone are rare malignant mesenchymal tumors. The most common bone sarcomas are osteosarcoma, Ewing's sarcoma, and chondrosarcoma. The prognosis has... (Review)
Review
Primary sarcomas of bone are rare malignant mesenchymal tumors. The most common bone sarcomas are osteosarcoma, Ewing's sarcoma, and chondrosarcoma. The prognosis has improved over the years, but bone sarcomas are still life-threatening tumors that need a multidisciplinary approach for diagnosis and treatment. Bone sarcomas arising in the pelvis present a unique challenge to orthopedic oncologists due to the absence of natural anatomical barriers, the close proximity of vital neurovascular structures, and the high mechanical demands placed on any pelvic reconstruction following the excision of the tumor. While radiotherapy has an important role especially in Ewing's sarcoma and chemotherapy for both Ewing's sarcoma and osteosarcoma, surgery remains the main choice of treatment for all three entities. While external hemipelvectomy has remained one option, the main aim of surgery is limb salvage. After complete tumor resection, the bone defect needs to be reconstructed. Possibilities to reconstruct the defect include prosthetic or biological reconstruction. The method of reconstruction is dependent on the location of tumor and the surgery required for its removal. The aim of this article is to give an insight into pelvic bone sarcomas, their oncological and surgical outcomes, and the options for treatment based on the authors' experiences.
Topics: Humans; Sarcoma, Ewing; Bone Neoplasms; Prognosis; Sarcoma; Osteosarcoma; Pelvic Bones; Pelvis; Soft Tissue Neoplasms
PubMed: 37438963
DOI: 10.1177/14574969231181504 -
Oral Radiology Apr 2024This study investigated the imaging features of head and neck chondrosarcoma (HNCS) according to its origin and pathologic subtype.
OBJECTIVES
This study investigated the imaging features of head and neck chondrosarcoma (HNCS) according to its origin and pathologic subtype.
METHODS
Patients who were pathologically diagnosed with HNCS between January 2000 and April 2022 were retrospectively reviewed. Lesions were classified based on their origin and pathologic subtype. The size and margin were evaluated on the image. Internal calcification and the effects on adjacent bone were assessed using computed tomography (CT) images, while signal intensity and contrast enhancement patterns were analyzed using magnetic resonance (MR) imaging.
RESULTS
Thirteen HNCSs were included in this study: 8 bone tumors (61.5%) and 5 soft tissue tumors (38.5%). The bone tumors were pathologically diagnosed as conventional (n = 5) and mesenchymal type (n = 3). Soft tissue tumors were defined as myxoid type. The main symptoms were swelling (90.9%) and pain (72.7%). The lesions measured 4.5 cm on average. The margins showed benign and well-defined except for the mesenchymal type. On CT, most bone tumors (75%) showed internal calcification with remodeling or destruction of the adjacent bone. No soft tissue tumors, except one case, showed internal calcification or destruction of the adjacent bone. MR imaging features were non-specific (T2 high signal intensity and contrast enhancement).
CONCLUSIONS
HCNS showed various imaging findings according to their origin and pathologic subtype. HNCS should be differentiated if a bone tumor shows internal calcification and affects the adjacent bone. When diagnosing slow-growing soft tissue tumors, even if low possibility, HNCS should be considered.
Topics: Humans; Retrospective Studies; Bone Neoplasms; Magnetic Resonance Imaging; Tomography, X-Ray Computed; Chondrosarcoma; Soft Tissue Neoplasms
PubMed: 38108955
DOI: 10.1007/s11282-023-00729-z -
Zhonghua Bing Li Xue Za Zhi = Chinese... Feb 2022To investigate the immunohistochemical expression of NKX3.1 and NKX2.2 in mesenchymal chondrosarcoma (MC), and to explore the differential diagnostic value of NKX3.1...
To investigate the immunohistochemical expression of NKX3.1 and NKX2.2 in mesenchymal chondrosarcoma (MC), and to explore the differential diagnostic value of NKX3.1 and NKX2.2 in MC and other types of small round cell malignant tumors. A total of 12 cases of MC and 97 other small round cell malignant tumors diagnosed in Jinling Hospital, Nanjing University School of Medicine from 2001 to 2020 were collected for NKX3.1 and NKX2.2 immunohistochemical detection. Among them, two kinds of NKX3.1 antibodies [rabbit polyclonal antibody and rabbit monoclonal antibody (EP356)] were used for detection in 12 cases of MC, and one NKX3.1 antibody (rabbit polyclonal antibody) was detected in 97 cases of other small round cell malignant tumors, and the relevant literature was reviewed. The 12 MC patients included 7 females and 5 males, with a mean age of 33 years (14-54 years). Nine cases were from bone and three from soft tissue. Among the 12 MC patients, 8 patients had postoperative recurrence or metastasis, and 3 of them died of tumor recurrence or metastasis. Histologically, 12 cases of MC showed typical bidirectional differentiation.The positive rate of both NKX3.1 antibodies in MC was 12/12, NKX3.1 was focal weakly positive in only one of 12 chondrosarcomas (grade 3), 5 alveolar rhabdomyosarcomas, 5 embryonal rhabdomyosarcomas, and 5 solitary fibrous tumors, respectively. The remaining 70 cases of other small round cell malignant tumors were negative. The positive rates of NKX2.2 in MC, Ewing sarcoma and olfactory neuroblastoma were 12/12, 15/15 and 4/5, respectively. In 12 cases of chondrosarcoma (grade 3), 5 cases of poorly differentiated synovial sarcoma, 5 cases of alveolar rhabdomyosarcoma, and 5 cases of solitary fibrous tumor, NKX2.2 was focally and weakly positive in only one case, respectively, and all the remaining 50 cases of other small round cell malignant tumors were negative. The expression of NKX3.1 and NKX2.2 proteins are significant indicators in the diagnosis of MC, and the combined detection of NKX3.1 and NKX2.2 can help distinguish MC from most other small round cell malignant tumors.
Topics: Biomarkers, Tumor; Chondrosarcoma, Mesenchymal; Diagnosis, Differential; Female; Homeodomain Proteins; Humans; Immunohistochemistry; Male; Nuclear Proteins
PubMed: 35152629
DOI: 10.3760/cma.j.cn112151-20210531-00393