Undifferentiated pleomorphic cardiac sarcomas are extremely rare, highly malignant mesenchymal cardiac neoplasms typically presenting in the sixth decade of life. Here, we have reported a rare case of undifferentiated pleomorphic cardiac sarcoma presenting with dyspnea in a young male. On further evaluations, a large, ill-defined, multilobulated mass was observed in left atrium (LA) with encasement of left circumflex artery, attachment to mitral valve annulus, and invasion through LA wall and pericardium.

Sarcomas are commonly misdiagnosed, and treatment delays negatively impact patient outcomes. The purpose of this study is to explore patient threshold for and timeline to medical evaluation, to identify providers most likely to be contacted first, and to assess general sarcoma knowledge in Minnesota\'s general population. Voluntary participants were recruited at the 2015 and 2022 Minnesota State Fair to complete a three-part survey. Part 1 assessed evaluation timeline and provider choice, part 2 evaluated sarcoma knowledge via a ten-question survey, and part 3 documented demographics. Responses were electronically recorded, and results were tabulated. Overall, 2124 participants completed some or all of the survey. Part 1: Participants indicated they would seek more urgent treatment for a painful mass compared to a non-painful mass (p < 0.001). The majority (77%) of participants indicated a family medicine physician would be their first contact for painful and non-painful masses. Part 2: There was no difference in overall score (percent correct) when comparing results from 2015 (mean = 40%) to 2022 (mean = 42%) (p = 0.183). Overall, 16% (349/2117) of participants had no correct responses. Individuals who self-identified as Hispanic or Latino ethnicity and a non-White race performed worse (p < 0.001). In general, scores improved with increased education and those with a graduate or professional degree had an estimated 2.515-point increase in score compared to participants with some high school education or high school diploma/general education diploma (p < 0.001). Participants with a healthcare background scored better (p < 0.001). Pain is a driving factor for patient-initiated evaluation, and primary care providers are the most likely first contact for patients. General sarcoma awareness remains low, even among those with advanced degrees and healthcare experience. Ongoing educational efforts are warranted for both the general public and healthcare communities in Minnesota.

BACKGROUND: The Musculoskeletal Tumor Society Score (MSTS) is widely used to evaluate functioning following surgery for bone and soft-tissue sarcoma. However, concerns have been raised about its content validity due to the lack of patient involvement during item development. Additionally, literature reports inconsistent results regarding data quality and structural validity. This study aimed to evaluate content, structural and construct validity of the Danish version of the MSTS for lower extremity (MSTS-LE).
METHODS: The study included patients from three complete cohorts (n = 87) with bone sarcoma or giant cell tumour of bone who underwent bone resection and reconstruction surgery in hip and knee. Content validity was evaluated by linking MSTS items to frameworks of functioning, core outcome sets and semi-structured interviews. Data quality, internal consistency and factor analysis were used to assess the underlying structure of the MSTS. Construct validity was based on predefined hypotheses of correlation between the MSTS and concurrent measurements.
RESULTS: Content validity analysis revealed concerns regarding the MSTS. The MSTS did not sufficiently cover patient-important functions, the item Emotional acceptance could not be linked to the framework of functioning, the items Pain and Emotional acceptance pertained to domains beyond functioning and items\' response options did not match items. A two-factor solution emerged, with the items Pain and Emotional acceptance loading highly on a second factor distinct from functioning. Internal consistency and construct validity showed values below accepted levels.
CONCLUSIONS: The Danish MSTS-LE demonstrated inadequate content validity, internal consistency, and construct validity. In addition, our analyses did not support unidimensionality of the MSTS. Consequently, the MSTS-LE is not a simple reflection of the construct of functioning and the interpretation of a sum score is problematic. Clinicians and researcher should exercise caution when relying solely on MSTS scores for assessing lower extremity function. Alternative outcome measurements of functioning should be considered for the evaluation of postoperative function in this patient group.

Near-haploidization, that is, loss of one copy of most chromosomes, is a relatively rare phenomenon in most tumors, but is enriched among certain soft tissue sarcomas, including undifferentiated pleomorphic sarcoma (UPS). Presumably, near-haploidization can arise through many mechanisms. This study aimed to identify gene rearrangements that could cause near-haploidization. We here present two UPS in which near-haploidization was an early event, identified through single nucleotide polymorphism (SNP) array analysis. One of the cases was studied further using whole genome and transcriptome sequencing, as well as cytogenetic and molecular cytogenetic methods. Both tumors had chromosomal rearrangements in the form of copy number shifts/structural variants affecting the SMC1A gene. These findings suggest that cohesin defects could contribute to mitotic errors resulting in massive loss of chromosomes. SMC1A encodes one of the components of the cohesin multiprotein complex, which is critical for proper alignment of the sister chromatids during S-phase and separation to opposite spindle poles. Further studies should explore the role of cohesin defects in near-haploidization in other sarcomas and to clarify its role in tumor development.

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OBJECTIVE: Reversed great saphenous vein (GSV) graft is widely used for revascularization in limb-sparing surgery for sarcoma invading great vessels. However, a mismatch in caliber between the reverse graft and cut end of the artery can threaten graft patency. Recently, we introduced the use of a venous valvulotome to allow nonreversed GSV graft. The purpose of this study was to evaluate the safety and versatility of this technique.
METHODS: We retrospectively compared long-term patency and limb salvage rates between nonreversed GSV and reversed GSV in patients undergoing limb-sparing surgery for sarcoma.
METHODS: Thirty-seven patients were included, with 21 in the nonreversed GSV group and 16 in the reversed GSV group. Patient characteristics, surgical details, and complications were reviewed from the hospital records. The patency of the reconstructed vessels was assessed using contrast-enhanced CT or MRI. Statistical analyses, including Kaplan-Meier survival analysis, were employed for comparisons.
RESULTS: The median follow-up was 38 months. Overall graft patency was 90.4% (19 of 21 patients) in the nonreversed GSV group and 81.2% (13 of 16) in the reverse GSV (RGSV) group. In the nonreversed GSV group, there was 1 case of graft occlusion each in the acute and chronic phases, but limb circulation remained intact and all limbs were spared.
CONCLUSIONS: Nonreversed GSV grafting with valvulotome offers a safe and versatile alternative to reversed GSV grafts in limb-sparing sarcoma surgery. It eliminates the need for vein reversal and minimizes diameter mismatch, potentially expanding the indication for autologous revascularization to previously ineligible cases.

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OBJECTIVE: Compared to primary breast sarcoma (BSs), radiotherapy-induced sarcoma (RIS) is a less frequent type of secondary breast sarcoma. Undifferentiated pleomorphic sarcoma (UPS) is an even rarer occurrence within the RIS category. This study aimed to present the clinicopathologic and molecular features of breast radiotherapy-induced UPS.
METHODS: A retrospective study was conducted at the Third Affiliated Hospital of Soochow University to analyze three patients with radiation-induced undifferentiated pleomorphic sarcoma (UPS) following breast cancer, spanning from 2006 to 2023. The clinical and pathological variables were extracted from the medical records, while immunohistochemistry was employed to analyze the immunophenotypes of these tumors. Genomic characteristics were assessed through DNA and RNA sequencing techniques. Another 15 cases from the literature were also reviewed to better characterize the tumor.
RESULTS: The affected areas encompass the chest wall and breasts, with an incubation period ranging from 6 to 17 years. The tumor cells exhibit pleomorphism and demonstrate a high degree of pathological mitosis. Notably, two cases displayed an accelerated disease progression, characterized by recurrent tumors and metastases occurring within short intervals of 48 and 7 months respectively subsequent to the initial diagnosis. The two prevailing identified genes were TP53 (2/3, 66.7%) and RB1 (1/3, 33.3%). Through analysis of somatic copy number variation (CNV), it was discovered that two oncogenes, MCL1 (1/3, 33.3%) and MYC (1/3, 33.3%), had experienced gains in CNV. The Tumor Mutational Burden (TMB) values for case 1, case 2, and case 3 were 5.9 mut/Mb, 1.0 mut/Mb, and 3.0 mut/Mb, respectively. Moreover, the analysis of RNA-NGS (next-generation sequencing) revealed the presence of a novel gene fusion, named COL3A1-GULP1, in case 2.
CONCLUSIONS: Based on our thorough analysis of research findings and previous reports, it is evident that radiotherapy-induced UPS exhibits a highly diverse and frequently severe clinical and biological behavior. Identifying tumor formation using genome sequencing can help understand its biological behavior and determine personalized treatments.

OBJECTIVE: Lattice radiation therapy (LRT) alternates regions of high and low doses inside the tumour. Whilst this technique reported positive results in tumour size reduction, optimal lattice parameters are still unknown. We introduce an automated LRT planning method personalised to tumour shape and designed to allow investigation of lattice geometry.
METHODS: Patients with retroperitoneal sarcoma were considered for inclusion. Automation was performed with the Eclipse Scripting Application Interface (v16, Varian Medical Systems, Palo Alto). By iterating over vertex size (V) and centre-to-centre distance (D), vertices were segmented within the gross tumour volume (GTV) in an alternating square pattern. Iterations stopped when the number of inserted vertices was contained between a prespecified lower and upper bound. Forty sets of lattices were considered, produced by varying V and D in five lower/upper bound pairs. Best-scoring sets were determined with a score favouring the maximization of GTV dose uniformity and heterogeneity whilst minimizing the maximum dose to organs at risk.
RESULTS: Fifty patients with tumour volumes between 150 cm3 and 10,000 cm3 were included. Best-scoring sets were characterised by a low number of vertices (<15). Based on the best-scoring set, the predicted parameters to use for new patients were V = 0.19 (GTV volume)1/3 and D = 2V, in centimetres. The number of vertices (N) to insert in the GTV can be estimated with N ≤ (24 × 3% GTV volume)/(4πV3).
CONCLUSIONS: The automated LRT treatment planning personalised to tumour size allows investigation of lattice geometry over a large range of GTV volumes.