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Surgery Journal (New York, N.Y.) Jul 2022Carcinosarcomas are malignant mixed Müllerian tumors (MMMT), containing both epithelial and mesenchymal components. Carcinosarcomas of the uterine cervix comprise...
Carcinosarcomas are malignant mixed Müllerian tumors (MMMT), containing both epithelial and mesenchymal components. Carcinosarcomas of the uterine cervix comprise an extremely rare histopathological entity, with less than 150 cases reported in the literature to date. A 79-year-old postmenopausal female patient was referred to our gynecological department due to a pelvic mass and vaginal bleeding. A cervical curettage was performed and the histological report revealed a malignant neoplasm with high cellularity consisting of two components; the first was a chondrosarcoma and the latter a adenocarcinoma. A diagnosis of MMMT was confirmed through immunohistochemical (IHC) staining. Neoadjuvant chemotherapy and radiotherapy were implemented, and a year later the patient underwent a radical hysterectomy and oncological pelvic lymph node dissection. She remains disease-free 12 months postoperatively. Primary cervical carcinosarcomas are extremely rare tumors demonstrating a bipartite profile. Preoperative diagnosis with appropriate immunochemistry testing of this rare entity is crucial to decision making.
PubMed: 35928548
DOI: 10.1055/s-0042-1744152 -
Frontiers in Oncology 2022The craniofacial skeleton is a highly complex and specialized anatomic region containing and protecting the brain and sensory organs. Bone sarcomas arising here comprise... (Review)
Review
The craniofacial skeleton is a highly complex and specialized anatomic region containing and protecting the brain and sensory organs. Bone sarcomas arising here comprise a heterogeneous group of tumours, some of which differ in their biological behaviour compared to their peripheral counterparts. The reasons for this seem to lie, at least partially, in the embryonal development of the craniofacial bones. For reaching the correct diagnosis as the cornerstone of optimal personalised treatment planning, a multidisciplinary team of specialists, including pathologists, radiologists, oncologists, and head and neck surgeons needs to be involved. The most common tumours arising in the craniofacial bones are bone-forming tumours, cartilage-forming tumours, fibro-osseous lesions, giant cell-rich lesions, and notochordal tumours. While morphology remains the backbone for the diagnosis, the last decade has witnessed tremendous advances in the molecular characterization of tumours, and molecular testing is increasingly becoming a part of the diagnostic process. The integration of these new molecular markers into the diagnostic approach has undoubtedly increased the diagnostic accuracy and objectivity, and holds great promise to also identify new therapeutic targets for precision medicine in the future. Examples include in mesenchymal chondrosarcoma, mutations in chondrosarcoma and rearrangements in rhabdomyosarcoma. In this article, key clinical, histological and molecular features of malignant bone tumours arising in the craniofacial region are discussed, with a special focus on the differential diagnosis and prognostic considerations.
PubMed: 35875137
DOI: 10.3389/fonc.2022.954717 -
Cancers Jun 2022To develop a novel treatment option for Chondrosarcoma (CS) and inflammatory arthritis, we evaluated a counterintuitive approach of activating tumorigenic and...
PURPOSE
To develop a novel treatment option for Chondrosarcoma (CS) and inflammatory arthritis, we evaluated a counterintuitive approach of activating tumorigenic and inflammatory signaling for generating joint-protective proteomes.
METHODS
We employed mesenchymal stem cells and chondrocytes to generate chondroprotective proteomes by activating PI3K signaling and the administration of TNFα. The efficacy of the proteomes was examined using human and mouse cell lines as well as a mouse model of CS. The regulatory mechanism was analyzed using mass spectrometry-based whole-genome proteomics.
RESULTS
While tumor progression and inflammatory responses were promoted by activating PI3K signaling and the administration of TNFα to CS cells and chondrocytes, those cells paradoxically generated a chondroprotective conditioned medium (CM). The application of CM downregulated tumorigenic genes in CS cells and TNFα and MMP13 in chondrocytes. Mechanistically, Hsp90ab1 was enriched in the chondroprotective CM, and it immunoprecipitated GAPDH. Extracellular GAPDH interacted with L1CAM and inhibited tumorigenic behaviors, whereas intracellular GAPDH downregulated p38 and exerted anti-inflammatory effects.
CONCLUSIONS
We demonstrated that the unconventional approach of activating oncogenic and inflammatory signaling can generate chondroprotective proteomes. The role of Hsp90ab1 and GAPDH differed in their locations and they acted as the uncommon protectors of the joint tissue from tumor and inflammatory responses.
PubMed: 35804814
DOI: 10.3390/cancers14133039 -
World Journal of Clinical Cases May 2022Metaplastic breast carcinoma (MBC) is a rare subtype of invasive breast cancer comprising malignant epithelial and mesenchymal cells. Compared with other invasive breast...
BACKGROUND
Metaplastic breast carcinoma (MBC) is a rare subtype of invasive breast cancer comprising malignant epithelial and mesenchymal cells. Compared with other invasive breast cancers, MBC is not only histologically distinctly heterogeneous but also has a rapid and aggressive growth pattern, which leads to a significant risk of recurrence and mortality.
CASE SUMMARY
In this study, we report the case of a patient with a large left breast mass diagnosed with bilateral invasive ductal carcinoma in both breasts after a preoperative core needle aspiration biopsy of the bilateral breast mass. The patient received neoadjuvant chemotherapy and underwent bilateral breast modified radical mastectomy. Postoperative pathology suggested carcinosarcoma with predominantly chondrosarcoma in the left breast and invasive ductal carcinoma (luminal B) in the right breast. As the patient did not achieve complete pathological remission after six cycles of neoadjuvant chemotherapy, we administered six months of intensive capecitabine treatment. Then the patient was switched to continuous treatment with endocrine therapy using letrozole + goserelin, and the patient is currently in stable condition. However, as MBC of the breast is concurrently diagnosed with chondrosarcoma differentiation, our case is sporadic.
CONCLUSION
Given the variety of immunohistochemical types of bilateral breast cancer, achieving effective chemotherapy should be a key research focus.
PubMed: 35801025
DOI: 10.12998/wjcc.v10.i15.5064 -
Journal of Surgical Case Reports Jun 2022Chondrosarcoma is a highly aggressive malignant tumor originating from cartilaginous and mesenchymal tissues. The aim of this report is to describe a rare case of...
Chondrosarcoma is a highly aggressive malignant tumor originating from cartilaginous and mesenchymal tissues. The aim of this report is to describe a rare case of nasosinusal chondrosarcoma with orbito-cerebral extension. Our patient was a 55-year-old with a right cheek swelling evolving over a year, with unilateral right nasal obstruction gradually becoming bilateral associated with hyposmia, bilateral exophthalmos, reduced bilateral deep visual acuity and permanent headaches. The clinical examination found a tumor obstructing the two nasal cavities. Imaging showed a lobulated heterogeneous tissue process occupying the paranasal sinuses, with calcifications and enhancement at its periphery, extending to the orbito-cerebral area. The histopathological analysis was in favor of chondrosarcoma. The patient was first treated with an incomplete surgical resection by an endonasal route due to the extension to the orbit and the brain and received adjuvant radiotherapy. Surgical excision is a prognostic factor in this type of sarcomas and reduces recurrence rates.
PubMed: 35755017
DOI: 10.1093/jscr/rjac286 -
Cancers May 2022Bone sarcomas are rare primary malignant mesenchymal bone tumors. The three main entities are osteosarcoma, chondrosarcoma, and Ewing sarcoma. While prognosis has... (Review)
Review
Bone sarcomas are rare primary malignant mesenchymal bone tumors. The three main entities are osteosarcoma, chondrosarcoma, and Ewing sarcoma. While prognosis has improved for affected patients over the past decades, bone sarcomas are still critical conditions that require an interdisciplinary diagnostic and therapeutic approach. While radiotherapy plays a role especially in Ewing sarcoma and chemotherapy in Ewing sarcoma and osteosarcoma, surgery remains the main pillar of treatment in all three entities. After complete tumor resection, the created bone defects need to be reconstructed. Possible strategies are implantation of allografts or autografts including vascularized bone grafts (e.g., of the fibula). Around the knee joint, rotationplasty can be performed or, as an alternative, the implantation of (expandable) megaprostheses can be performed. Challenges still associated with the implantation of foreign materials are aseptic loosening and infection. Future improvements may come with advances in 3D printing of individualized resection blades/implants, thus also securing safe tumor resection margins while at the same time shortening the required surgical time. Faster osseointegration and lower infection rates may possibly be achieved through more elaborate implant surface structures.
PubMed: 35681674
DOI: 10.3390/cancers14112694 -
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 -
The American Journal of Surgical... Oct 2022Chondromyxoid fibroma (CMF) is a rare benign bone neoplasm that manifests histologically as a lobular proliferation of stellate to spindle-shaped cells in a myxoid...
Chondromyxoid fibroma (CMF) is a rare benign bone neoplasm that manifests histologically as a lobular proliferation of stellate to spindle-shaped cells in a myxoid background, exhibiting morphologic overlap with other cartilaginous and myxoid tumors of bone. CMF is characterized by recurrent genetic rearrangements that place the glutamate receptor gene GRM1 under the regulatory control of a constitutively active promoter, leading to increased gene expression. Here, we explore the diagnostic utility of GRM1 immunohistochemistry as a surrogate marker for GRM1 rearrangement using a commercially available monoclonal antibody in a study of 230 tumors, including 30 CMF cases represented by 35 specimens. GRM1 was positive by immunohistochemistry in 97% of CMF specimens (34/35), exhibiting moderate to strong staining in more than 50% of neoplastic cells; staining was diffuse (>95% of cells) in 25 specimens (71%). Among the 9 CMF specimens with documented exposure to acid decalcification, 4 (44%) exhibited diffuse immunoreactivity (>95%) for GRM1, whereas all 15 CMF specimens (100%) with lack of exposure to decalcification reagents were diffusely immunoreactive ( P =0.003). High GRM1 expression at the RNA level was previously observed by quantitative reverse transcription polymerase chain reaction in 9 CMF cases that were also positive by immunohistochemistry; low GRM1 expression was observed by quantitative reverse transcription polymerase chain reaction in the single case of CMF that was negative by immunohistochemistry. GRM1 immunohistochemistry was negative (<5%) in histologic mimics of CMF, including conventional chondrosarcoma, enchondroma, chondroblastoma, clear cell chondrosarcoma, giant cell tumor of the bone, fibrous dysplasia, chondroblastic osteosarcoma, myoepithelial tumor, primary aneurysmal bone cyst, brown tumor, phosphaturic mesenchymal tumor, CMF-like osteosarcoma, and extraskeletal myxoid chondrosarcoma. These results indicate that GRM1 immunohistochemistry may have utility in distinguishing CMF from its histologic mimics.
Topics: Antibodies, Monoclonal; Bone Neoplasms; Chondrosarcoma; Fibroma; Humans; Immunohistochemistry; Osteosarcoma; RNA
PubMed: 35650682
DOI: 10.1097/PAS.0000000000001921 -
Medicina (Kaunas, Lithuania) May 2022: Mesenchymal chondrosarcoma is a rare but aggressive subtype of sarcoma. The majority of involvement locates in the axial skeleton. Treatment modalities include radical...
: Mesenchymal chondrosarcoma is a rare but aggressive subtype of sarcoma. The majority of involvement locates in the axial skeleton. Treatment modalities include radical surgery, local radiotherapy, and systemic chemotherapy. However, the long-term survival outcome remains poor. : We present the case of a 33-year-old male with a palpable chest wall mass for one year, diagnosed with mesenchymal chondrosarcoma with surgical removal. Later, he had an unusual pancreatic tail tumor as the first presentation of disease metastasis which was proven by surgical resection one year later. : Although mesenchymal chondrosarcoma locates mainly in the axial skeletal system, extra-skeletal soft tissue or organ involvement might be seen occasionally. Active surveillance with multidisciplinary team management could significantly prolong survival outcomes.
Topics: Adult; Chondrosarcoma, Mesenchymal; Humans; Male; Pancreatic Neoplasms; Sarcoma
PubMed: 35630056
DOI: 10.3390/medicina58050639 -
Cancer Medicine Jan 2023Mesenchymal chondrosarcoma (MCS) is an ultra-rare sarcoma that follows a more aggressive course than conventional chondrosarcoma. This study evaluates prognostic...
BACKGROUND
Mesenchymal chondrosarcoma (MCS) is an ultra-rare sarcoma that follows a more aggressive course than conventional chondrosarcoma. This study evaluates prognostic factors, treatments (surgery, chemotherapy, and radiation), and outcomes in an Australian setting.
METHODS
We collected demographics, clinicopathological variables, treatment characteristics, and survival status from patients with MCS registered on the national ACCORD sarcoma database. Outcomes include overall survival (OS) and progression-free survival (PFS).
RESULTS
We identified 22 patients with MCS between 2001-2022. Median age was 28 (range 10-59) years, 19 (86%) had localised disease at diagnosis of whom 16 had surgery (84%), 11 received radiation (58%), and 10 chemotherapy (53%). Ten (52%) developed recurrence and/or metastases on follow-up and three patients with initial metastatic disease received surgery, radiation, and chemotherapy. At a median follow-up of 50.9 (range 0.4-210) months nine patients had died. The median OS was 104.1 months (95% CI 25.8-182.3). There was improved OS for patients with localised disease who had surgical resection of the primary (p = 0.003) and those with ECOG 0-1 compared to 2-3 (p = 0.023) on univariate analysis.
CONCLUSIONS
This study demonstrates contemporary Australian treatment patterns of MCS. The role of chemotherapy for localised disease remains uncertain. Understanding treatment patterns and outcomes help support treatment decisions and design of trials for novel therapeutic strategies.
Topics: Humans; Child; Adolescent; Young Adult; Adult; Middle Aged; Chondrosarcoma, Mesenchymal; Bone Neoplasms; Australia; Soft Tissue Neoplasms; Sarcoma; Cohort Studies; Retrospective Studies
PubMed: 35603739
DOI: 10.1002/cam4.4849