Publications by authors named "DeMicco E"

Background: Differentiation of benign myxomas and malignant myxoid sarcomas can be difficult with an overlapping spectrum of morphologic MR findings.

Purpose: To assess the diagnostic utility of MRI radiomics in the differentiation of musculoskeletal myxomas and myxoid sarcomas.

Study Type: Retrospective.

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The aim of the study was to report the outcome of primary localized low-grade fibromyxoid sarcoma (LGFMS), sclerosing epithelioid fibrosarcoma (SEF), and hybrid LGFMS/SEF (H-LGFMS/SEF). Patients with primary localized LGFMS, SEF, or H-LGFMS/SEF, surgically treated with curative intent from January 2000 to September 2022, were enrolled from 14 countries and 27 institutions. Pathologic inclusion criteria were predefined by expert pathologists.

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  • Solitary fibrous tumor (SFT) is a rare type of tumor that can occur in various body parts and is often linked to specific genetic fusions, with 10-30% of cases becoming metastatic.
  • A study involving DNA methylation analysis of 79 SFTs revealed distinct epigenetic changes linked to their primary sites, identifying key genes such as EGFR and TBX15 that showed differing levels of expression based on the tumor's location and genetic fusion type.
  • TBX15 emerged as a significant marker, with changes in its methylation and expression strongly correlating to the tumor's tissue of origin, suggesting it could help differentiate between new tumors and metastases without needing extensive genomic analysis.
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  • A retrospective study by the Ultra-Rare Sarcoma Working Group analyzed data from 101 patients with metastatic low-grade fibromyxoid sarcoma (LGFMS), sclerosing epithelioid fibrosarcoma (SEF), and hybrid (H)-LGFMS/SEF across 28 centers from January 2000 to September 2022.
  • The study measured progression-free survival (PFS) from the detection of metastasis and after starting treatment, revealing varying effectiveness among the different sarcoma types and treatments.
  • Findings showed that metastatic LGFMS and SEF had distinct survival outcomes, with systemic treatments showing limited effectiveness, suggesting a need for new therapeutic options in future research.
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  • Acral fibrochondromyxoid tumor (AFCMT) is a recently identified, likely benign tumor found in the hands and feet, characterized by distinct histological features and a specific genetic fusion (THBS1::ADGRF5).
  • In a study of 37 cases, the tumors predominantly affected middle-aged individuals (median age 47) and displayed well-defined structures with vascularity and chondrocyte-like cells in a chondromyxoid environment.
  • Immunohistochemical tests showed most tumors positive for CD34 and ERG but negative for S100 protein, indicating that AFCMT is a unique entity distinct from other similar tumors.
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The category of ALK -rearranged mesenchymal neoplasms has been evolving rapidly, with reports of morphologically diverse lesions of cutaneous, soft tissue, and visceral origin. While some of these represent morphologically defined entities harboring recurrent ALK fusions (inflammatory myofibroblastic tumor and epithelioid fibrous histiocytoma), others are unclassified by morphology with variable overlap with the tyrosine kinase family of neoplasia and their underlying ALK fusions cannot be suspected based on morphology. We herein report 3 cases that expand the anatomic, morphologic, and genotypic spectrum of ALK -rearranged unclassified neoplasms.

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Polybrominated diphenyl ethers (PBDEs) exposure is associated with preterm birth. Laboratory studies suggest that PBDEs lead to elevated oxidative stress, a known contributor to preterm birth in epidemiologic studies. We hypothesized that elevated levels of PBDEs would be associated with increased oxidative stress during human pregnancy.

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Intimal sarcoma (InS) is an ultra-rare and aggressive subtype of soft tissue sarcoma (STS). It usually arises in large mediastinal arteries and the heart. In the advanced setting, sequential cytotoxic chemotherapy is often used, mainly based on retrospective studies and case series but with modest benefit.

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Prenatal per- and poly-fluoroalkyl substances (PFAS) exposure may influence gestational outcomes through bioactive lipids─metabolic and inflammation pathway indicators. We estimated associations between prenatal PFAS exposure and bioactive lipids, measuring 12 serum PFAS and 50 plasma bioactive lipids in 414 pregnant women (median 17.4 weeks' gestation) from three Environmental influences on Child Health Outcomes Program cohorts.

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Familial gastrointestinal stromal tumors (GIST) are rare. We present a kindred with multiple family members affected with multifocal GIST who underwent whole genome sequencing of the germline and tumor. Affected individuals with GIST harbored a germline variant found within exon 13 of the KIT gene (c.

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Spindle cell neoplasms arising in the head and neck may be challenging to recognize due to their relative rarity. While underlying molecular alterations are increasingly elucidated, testing for these features may not be readily available. In most cases, combinations of key morphologic features and diagnostic immunohistochemical markers can be used to replace molecular diagnostics.

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"Xanthogranulomatous epithelial tumor" (XGET) and "keratin-positive giant cell-rich soft tissue tumor" (KPGCT), two recently described mesenchymal neoplasms, likely represent different aspects of a single entity. Both tumors are composed of only a small minority of tumor cells surrounded by large numbers of non-neoplastic inflammatory cells and histiocytes, suggesting production of a paracrine factor with resulting "landscape effect," as seen in tenosynovial giant cell tumor. Recent evidence suggests that the paracrine factor in XGET/KPGCT may be CSF1, as in tenosynovial giant cell tumor.

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Background: Per- and poly-fluoroalkyl substances (PFAS) exposure can occur through ingestion of contaminated food and water, and inhalation of indoor air contaminated with these chemicals from consumer and industrial products. Prenatal PFAS exposures may confer risk for pregnancy-related outcomes such as hypertensive and metabolic disorders, preterm birth, and impaired fetal development through intermediate metabolic and inflammation pathways.

Objective: Estimate associations between maternal pregnancy PFAS exposure (individually and as a mixture) and bioactive lipids.

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Low-grade endometrial stromal sarcoma (LGESS) represents a morphologically and genetically heterogenous mesenchymal neoplasm. Previous work has shown that approximately half of LGESS are characterized by JAZF1::SUZ12 gene fusions, while a smaller proportion involves rearrangement of other genes. However, a subset of cases has no known genetic abnormalities.

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Synovial sarcoma (SS) is a tumor known for its classic monophasic spindle cell or biphasic morphology. However, it exhibits a wide range of histologic variations, leading to diagnostic challenges. Here, we present four cases of molecularly confirmed, biphasic SS originating in the feet and displaying myoepithelial differentiation.

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We introduce a pioneering approach that integrates pathology imaging with transcriptomics and proteomics to identify predictive histology features associated with critical clinical outcomes in cancer. We utilize 2,755 H&E-stained histopathological slides from 657 patients across 6 cancer types from CPTAC. Our models effectively recapitulate distinctions readily made by human pathologists: tumor vs.

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  • DNA methylation is crucial for maintaining cellular identity, but it's often disrupted in tumors and linked with other genetic changes.
  • Researchers analyzed 687 tumors and adjacent normal tissues across various organs to create a Pan-Cancer catalog, highlighting specific methylation patterns.
  • They discovered that certain methylation changes are associated with cancer characteristics, such as hypomethylated FGFR2 in endometrial cancer and hypermethylated STAT5A leading to immune suppression in squamous tumors, revealing the importance of methylation in tumor behavior.
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We characterized a prospective endometrial carcinoma (EC) cohort containing 138 tumors and 20 enriched normal tissues using 10 different omics platforms. Targeted quantitation of two peptides can predict antigen processing and presentation machinery activity, and may inform patient selection for immunotherapy. Association analysis between MYC activity and metformin treatment in both patients and cell lines suggests a potential role for metformin treatment in non-diabetic patients with elevated MYC activity.

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  • Prenatal exposure to PFAS is linked to various health issues, but its effects on infant cognition are unclear.
  • A study with 163 infants measured cognition at 7.5 months using visual recognition tasks, correlating maternal PFAS levels from the second trimester.
  • Findings suggest that higher levels of certain PFAS are associated with improved visual attention in infants, as indicated by increased shift rates during the visual tasks.
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The recently described KMT2A-rearranged sarcomas are rare emerging entities where the KMT2A gene fuses with YAP1 and, less commonly, VIM, resulting in two distinct morphologies. Unlike the sclerosing epithelioid fibrosarcoma-like features that characterize tumors with KMT2A::YAP1 fusions, VIM::KMT2A-rearranged sarcomas are more uniformly cellular and lack the extensively sclerotic background seen in the former. Most tumors behave aggressively with metastases on presentation.

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  • The ABL1 proto-oncogene gene fusion with GAB1 has been identified in soft tissue tumors, but these cases are rare and not well characterized, with previous reports only anecdotal.
  • Eight tumors carrying this GAB1::ABL1 fusion were studied, revealing similar morphologies and varying locations, with most tumors being mild in terms of cellular activity and appearance.
  • Immunohistochemical analysis showed specific markers and consistency in the presence of the GAB1::ABL1 fusion across all cases, leading to surgical interventions as the primary mode of treatment.*
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Background: Exposure to per- and poly-fluoroalkyl substances (PFAS) remains an important public health issue due to widespread detection and persistence in environmental media, slow metabolism in humans, and influences on physiological processes such as neurological signaling. Maternal depression is highly prevalent during pregnancy and postpartum and is potentially sensitive to PFAS. The health risks associated with PFAS may be further amplified in historically marginalized communities, including immigrants.

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Unlabelled: Living in a disadvantaged neighborhood has been associated with adverse birth outcomes. Most prior studies have conceptualized neighborhoods using census boundaries and few have examined the role of neighborhood perceptions, which may better capture the neighborhood environment. In the present study, we examined associations between extrinsic and perceived neighborhood quality measures and adverse birth outcomes.

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Background: Exposure to environmental chemicals during pregnancy adversely affects maternal and infant health, and identifying socio-demographic differences in exposures can inform contributions to health inequities.

Methods: We recruited 294 demographically diverse pregnant participants in San Francisco from the Mission Bay/Moffit Long (MB/ML) hospitals, which serve a primarily higher income population, and Zuckerberg San Francisco General Hospital (ZSFGH), which serves a lower income population. We collected maternal and cord sera, which we screened for 2420 unique formulas and their isomers using high-resolution mass spectrometry using LC-QTOF/MS.

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Background: In ultra-rare sarcomas (URS) the conduction of prospective, randomized trials is challenging. Data from retrospective observational studies (ROS) may represent the best evidence available. ROS implicit limitations led to poor acceptance by the scientific community and regulatory authorities.

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