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Oxford Medical Case Reports Feb 2024Uterine carcinosarcoma (UCS), also known as malignant mixed Müllerian tumor, is a rare malignancy, which consists of both carcinomatous and sarcomatous elements, with a...
Uterine carcinosarcoma (UCS), also known as malignant mixed Müllerian tumor, is a rare malignancy, which consists of both carcinomatous and sarcomatous elements, with a clinical picture resembling endometrial carcinoma. We report a case of a 74-year-old woman is reported with UCS, diagnosed after a 7 months history of vaginal bleeding and abdominal pain. Previous transvaginal sonography showed nonspecific findings, but a repeated one revealed a central uterine mass. Dilatation and curettage and several biopsies were performed. The initial histological report suggested high-grade endometrial stromal sarcoma. After total hysterectomy with salpingo-oophorectomy, pathology confirmed UCS whose sarcomatous element was heterologous type included osteosarcoma and chondrosarcoma. The patient is receiving adjuvant chemotherapy. This case highlights the importance of pathology evaluation after hysterectomy to raise the confidence of diagnosis with emphasis on prognostic outcomes that can be significantly affected in patients with this type of sarcomatous element.
PubMed: 38370501
DOI: 10.1093/omcr/omad157 -
International Journal of Molecular... Feb 2024Recurrent gene fusions (GFs) in translocated sarcomas are recognized as major oncogenic drivers of the disease, as well as diagnostic markers whose identification is...
Recurrent gene fusions (GFs) in translocated sarcomas are recognized as major oncogenic drivers of the disease, as well as diagnostic markers whose identification is necessary for differential diagnosis. is a 'promiscuous' gene that can fuse with many different partner genes, defining different entities among a broad range of mesenchymal neoplasms. Molecular testing of translocation traditionally relies on FISH assays with break-apart probes, which are unable to identify the fusion partner. Therefore, other ancillary molecular diagnostic modalities are being increasingly adopted for accurate classification of these neoplasms. Herein, we report three cases with rare GFs involving in undifferentiated mesenchymal neoplasms with uncertain differential diagnoses, using targeted RNA-seq and confirming with RT-PCR and Sanger sequencing. Two GFs involved hormone nuclear receptors as 3' partners, and , which have not been previously reported. may functionally replace , the usual 3' partner in extraskeletal myxoid chondrosarcoma. The third GF, , has previously been reported in a subtype of astroblastoma and other rare entities, including a single case of a soft-tissue tumor that we discuss in this work. In conclusion, our findings indicate that the catalogue of mesenchymal neoplasm-bearing fusions continues to grow, underscoring the value of using molecular ancillary techniques with higher diagnostic abilities in the routine clinical setting.
Topics: Humans; Calmodulin-Binding Proteins; Chondrosarcoma; Neoplasms, Connective and Soft Tissue; Oncogene Proteins, Fusion; RNA-Binding Protein EWS; RNA-Binding Proteins; Sarcoma; Soft Tissue Neoplasms
PubMed: 38339014
DOI: 10.3390/ijms25031735 -
International Journal of Surgery Case... Feb 2024Chondrosarcoma is a rare malignant tumor considered as the second common sarcoma of bone following osteosarcoma. Less than 5 % of chondrosarcomas occur in children....
INTRODUCTION AND IMPORTANCE
Chondrosarcoma is a rare malignant tumor considered as the second common sarcoma of bone following osteosarcoma. Less than 5 % of chondrosarcomas occur in children. Conventional chondrosarcoma is the most common type observed as skeletal tumors. Extraskeletal chondrosarcomas account for about 1 % of chondrosarcomas. They are almost always of myxoid or mesenchymal subtypes.
CASE PRESENTATION
A 4-year-old girl was referred with pain and palpable mass in the labia majora since 2 years of age for which she had undergone twice biopsies, reported as soft tissue enchondroma. At this time, complete excision of the lesion with negative margins was carried out. The pathology was in favor of extraskeletal chondrosarcoma of conventional type without any evidence of bone involvement.
CLINICAL DISCUSSION
Our case was a very young child with extraskeletal conventional chondrosarcoma, not reported yet in the literature. The vast majority of extraskeletal myxoid chondrosarcomas arise in the soft tissues of the extremities. The lesion in this case was located within the subcutaneous tissue of the labia majora; however, the tumor was not compatible with myxoid chondrosarcoma. Mesenchymal chondrosarcoma is another type of extraskeletal chondrosarcoma but the histopathologic patterns observed in our patient were not compatible even with the mesenchymal chondrosarcoma.
CONCLUSION
We present a unique case of extraskeletal chondrosarcoma in a child with conventional subtype which has not been reported in the literature. In addition, the lesion was assumed to arise from a previous soft tissue enchondroma of the labia majora since infancy which makes the case distinctive.
PubMed: 38237415
DOI: 10.1016/j.ijscr.2024.109230 -
Annals of Medicine and Surgery (2012) Jan 2024Mesenchymal chondrosarcoma (MC) is a rapidly progressive sarcoma that predominantly impacts the bones. Making up only 3% of chondrosarcomas, about one-third of these...
INTRODUCTION
Mesenchymal chondrosarcoma (MC) is a rapidly progressive sarcoma that predominantly impacts the bones. Making up only 3% of chondrosarcomas, about one-third of these tumours develop in extra-skeletal sites.
CASE PRESENTATION
The authors present a clinical case of a 42-year-old patient who was diagnosed with MC 8 years ago, now admitted to the hospital with a palpable epigastric mass. Clinical and laboratory examinations showed consistent results for MC tumours, with metastasis to the body and tail of the pancreas and invasion of the splenic vein. Surgical resection and systemic screening were performed to ensure that there were no lesions elsewhere. Regular follow-up has found no localized lesions or complications after 15 months.
CLINICAL DISCUSSION
Metastatic extra-skeletal mesenchymal chondrosarcoma of the pancreas is exceptionally rare. To our current understanding, only 14 such cases have been documented in medical literature. The symptoms of pancreatic metastasis are diverse and the radiographic features of metastatic mesenchymal chondrosarcoma are not typically distinct.
CONCLUSIONS
Although MC tumours do not frequently occur in sites other than the axial system, a tumour presenting later in a patient with a history of MC should be reviewed to confirm the diagnosis of metastatic MC. Treatment can vary between surgery, radiation therapy and systemic therapy.
PubMed: 38222770
DOI: 10.1097/MS9.0000000000001549 -
Patient-Derived Spheroid Culture Models Are Better Than Monolayer Models in Chondrosarcoma Research.Research Square Dec 2023Chondrosarcoma (CSA) are mesenchymal tissue-derived bone tumors. CSA mainly occurs in older people. CSA has demonstrated resistance to chemotherapy and radiation;...
PURPOSE
Chondrosarcoma (CSA) are mesenchymal tissue-derived bone tumors. CSA mainly occurs in older people. CSA has demonstrated resistance to chemotherapy and radiation; complete surgical removal with negative margins is the only treatment option. In the case of metastatic CSA, the chance of survival is meager. Since the conventional two-dimensional cell culture models failed to retain tumor characteristics, developing preclinical models mimicking the disease with the highest fidelity is paramount for personalized treatments.
METHODS
In this study, we established spherical cultured cells as new models for CSA. First, we demonstrated that CSA cells could form spheroids when cultured in ultra-low attachment plates. Next, tissue samples from CSA patients were collected and processed into primary cells, which were subsequently cultured as primary spheroids. The growth rate of primary spheroids was monitored and the histology of mature spheroids were characterized. These primary spheroids were used in drug susceptibility studies where traditional doxorubicin therapy and our novel disulfiram-copper therapy were tested.
RESULTS
Compared with conventional monolayer cultures, spheroids better recapitulated the features of the in vivo tumor in the aspect of the formation of extracellular matrix. In the drug susceptibility study, spheroids demonstrated high resistance to the classic therapies, suggesting that monolayer cultures may give false positive results. Therefore, using spheroids for drug research and development in the CSA field should provide more accurate results.
CONCLUSION
In summary, our study of primary CSA spheroids brought new insight into their chemoresistance and demonstrated its potential for personalized treatment of CSA in clinical medicine.
PubMed: 38168175
DOI: 10.21203/rs.3.rs-3728259/v1 -
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 -
Annals of Diagnostic Pathology Feb 2024SMARCB1/INI1-deficient soft tissue tumors with epithelioid and myxoid features are diverse and mainly include soft tissue myoepithelial tumor, extraskeletal myxoid...
SMARCB1/INI1-deficient soft tissue tumors with epithelioid and myxoid features are diverse and mainly include soft tissue myoepithelial tumor, extraskeletal myxoid chondrosarcoma, and the recently described myoepithelioma-like tumor of the vulvar region and myxoepithelioid tumor with chordoid features. Because of their overlapping features, the accurate diagnosis and classification of these tumors are often challenging. Herein, we report two unique cases of SMARCB1/INI1-deficient soft tissue neoplasm with epithelioid and myxoid features occurring in male paratesticular region. The first case was a 52-year-old man presented with an intermittent painful left paratesticular mass for 1 year. The second case was a 41-year-old man presented with a painless paratesticular mass on the right side for 3 months. Both patients underwent an orchiectomy. After 6 and 26 months of follow-up, both were alive with no evidence of recurrence or metastasis. In both cases, the tumor was relatively well-demarcated and showed monomorphic round to epithelioid cells arranged in a nested, trabecular, reticular, and corded pattern, setting in a myxohyalinized and vascularized matrix. The tumor cells showed relatively uniform round nuclei with vesicular chromatin and variably prominent nucleoli. No rhabdoid cells were identified. Mitoses numbered 3 and 2 per 10 high-power fields. Tumor necrosis or lymphovascular invasion was absent. Immunohistochemically, both tumors expressed epithelial membrane antigen (focal), calponin (focal), and CD99. SMARCB1/INI1 expression was deficient in both cases. In addition, case 1 diffusely expressed pan-cytokeratin, and case 2 diffusely expressed CD34 and synaptophysin. Molecular genetically, case 1 showed SMARCB1 homozygous deletion as detected by fluorescence in-situ hybridization (FISH), and case 2 demonstrated SMARCB1 copy number deletions by next-generation sequencing and SMARCB1 monoallelic deletion by FISH. Both cases lacked EWSR1 rearrangements by FISH. The overall clinicopathologic profiles of the two cases made it difficult to classify them as one of the established categories of SMARCB1/INI1-deficient mesenchymal tumors. Our study further expands the clinicopathologic and molecular spectrum of SMARCB1/INI1-deficient epithelioid and myxoid neoplasms and highlights the challenges to diagnose these tumors.
Topics: Humans; Male; Middle Aged; Adult; Homozygote; Sequence Deletion; SMARCB1 Protein; Chondrosarcoma; Neoplasms, Connective and Soft Tissue; Soft Tissue Neoplasms; Biomarkers, Tumor
PubMed: 38039617
DOI: 10.1016/j.anndiagpath.2023.152242 -
Cancers Nov 2023Sarcomas are a heterogeneous group of malignant mesenchymal tumors, including soft tissue and bone sarcomas. Macrophages in the tumor microenvironment, involved in... (Review)
Review
Sarcomas are a heterogeneous group of malignant mesenchymal tumors, including soft tissue and bone sarcomas. Macrophages in the tumor microenvironment, involved in immunosuppression and leading to tumor development, are called tumor-associated macrophages (TAMs). TAMs are very important in modulating the microenvironment of sarcomas by expressing specific markers and secreting factors that influence immune and tumor cells. They are involved in many signaling pathways, such as p-STAT3/p-Erk1/2, PI3K/Akt, JAK/MAPK, and JAK/STAT3. TAMs also significantly impact the clinical outcomes of patients suffering from sarcomas and are mainly related to poor overall survival rates among bone and soft tissue sarcomas, for example, chondrosarcoma, osteosarcoma, liposarcoma, synovial sarcoma, and undifferentiated pleomorphic sarcoma. This review summarizes the current knowledge on TAMs in sarcomas, focusing on specific markers on sarcoma cells, cell-cell interactions, and the possibly involved molecular pathways. Furthermore, we discuss the clinical significance of macrophages in sarcomas as a potential target for new therapies, presenting clinical relevance, possible new treatment options, and ongoing clinical trials using TAMs in sarcoma treatment.
PubMed: 37958467
DOI: 10.3390/cancers15215294 -
International Journal of Gynecological... Jul 2024Mesonephric-like adenocarcinoma (MLA) of the ovary is a recently recognized, rare malignancy with aggressive clinical behavior, and is thought to originate from...
Mesonephric-like adenocarcinoma (MLA) of the ovary is a recently recognized, rare malignancy with aggressive clinical behavior, and is thought to originate from Mullerian epithelium with mesonephric transdifferentiation. Emerging evidence suggests that MLA may be classified as an endometriosis-associated neoplasm. The presence of a sarcomatous component within MLA is extremely rare, with common differential diagnoses including the spindle cell component of MLA, carcinosarcoma, as well as mixed Mullerian adenocarcinoma and adenosarcoma. Herein, we report a 58-year-old Chinese woman with bilateral ovarian solid-cystic masses. The left ovarian mass comprised a biphasic tumor with a predominantly high-grade sarcomatous component displaying heterologous mesenchymal differentiation, including liposarcoma, rhabdomyosarcoma and chondrosarcoma-like areas, with a null-type p53 expression. The epithelial component ranged from a bland appearance in areas diagnostic of adenosarcoma to a clearly invasive carcinoma, both with mesonephric-like phenotype, being negative for estrogen receptor, progesterone receptor, and Wilms' tumor 1, variably positive for paired box gene 8, GATA binding protein 3, and thyroid transcription factor 1, with a wild-type p53 expression. The differing p53 expression between the epithelial and sarcomatous elements mitigated against a diagnosis of carcinosarcoma. The right ovarian mass showed endometriosis with focal direct evidence of the development of malignancy within a benign endometriotic cyst, exhibiting the identical immunoprofile of MLA but originating as another malignancy. To the best of our knowledge, this case represents the first reported case of synchronous bilateral ovarian MLAs with separate origins, from high-grade Mullerian adenosarcoma and endometriosis respectively, which broadens the morphologic spectrum of MLA and provides further evidence supporting the Mullerian origin theory.
Topics: Humans; Female; Endometriosis; Middle Aged; Adenosarcoma; Ovarian Neoplasms; Adenocarcinoma; Ovary; Diagnosis, Differential; Mixed Tumor, Mullerian
PubMed: 37922943
DOI: 10.1097/PGP.0000000000000997