ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2018
Inflammatory leiomyosarcoma is a distinct tumor characterized by near-haploidization, few somatic mutations, and a primitive myogenic gene expression signature.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 55 citations in OpenAlex.
- Inflammatory Rhabdomyoblastic Tumor with Malignant Progression of the Neck: Unique Copy Number Profile Identified by Nanopore Sequencing.Head and neck pathology · 2026Article
- Pervasive chromosomal instability drives the karyotypic evolution of hypodiploid tumours.Genome medicine · 2026Article
- Case Report:Frontiers in oncology · 2025Article
- Rhabdomyosarcoma in children and young adults.Virchows Archiv : an international journal of pathology · 2025Review
- Diffuse Pleural Mesotheliomas with Genomic Near-Haploidization: A Newly Recognized Subset with Distinct Clinical, Histologic, and Molecular Features.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Inflammatory rhabdomyoblastic tumor, pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1: a case report.Diagnostic pathology · 2024Article
- Impaired neutrophil-mediated cell death drives Ewing's Sarcoma in the background of Down syndrome.Frontiers in oncology · 2024Article
- Pulmonary inflammatory leiomyosarcoma represents a potential diagnostic pitfall of DNA methylation-based classification of sarcomas: a case report.BMC pulmonary medicine · 2023Article
- Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA.Cancer discovery · 2023Article
- A Rare Case of A Low-Grade Inflammatory Leiomyosarcoma/Histiocyte-Rich Rhabdomyoblastic Tumor in the Neck of An Adolescent Male.Turk patoloji dergisi · 2023Article
- Myxoid pleomorphic liposarcoma is distinguished from other liposarcomas by widespread loss of heterozygosity and significantly worse overall survival: a genomic and clinicopathologic study.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Inflammatory leiomyosarcoma/rhabdomyoblastic tumor: A report of two cases with novel genetic findings.Genes, chromosomes & cancer · 2022Article
- WHO Pathology: Highlights of the 2020 Sarcoma Update.Surgical oncology clinics of North America · 2022Review
- Toward a unifying entity that encompasses most, but perhaps not all, inflammatory leiomyosarcomas and histiocyte-rich rhabdomyoblastic tumors.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Review
- "Inflammatory Leiomyosarcoma" and "Histiocyte-rich Rhabdomyoblastic Tumor": a clinicopathological, immunohistochemical and genetic study of 13 cases, with a proposal for reclassification as "Inflammatory Rhabdomyoblastic Tumor".Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Histiocyte-rich rhabdomyoblastic tumor: a report of two cases and a review of the differential diagnoses.Virchows Archiv : an international journal of pathology · 2021Review
- Genetics, Diagnosis, and Management of Hürthle Cell Thyroid Neoplasms.Frontiers in endocrinology · 2021Review
- Investigating the Role of Telomere and Telomerase Associated Genes and Proteins in Endometrial Cancer.Methods and protocols · 2020Article
- Inflammatory leiomyosarcoma shows frequent co-expression of smooth and skeletal muscle markers supporting a primitive myogenic phenotype: a report of 9 cases with a proposal for reclassification as low-grade inflammatory myogenic tumor.Virchows Archiv : an international journal of pathology · 2020Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inflammatory leiomyosarcoma is a soft-tissue tumor resembling conventional leiomyosarcoma, but with a prominent intrinsic inflammatory component. Previous studies have suggested that inflammatory leiomyosarcoma differs genetically from leiomyosarcoma, but in-depth analyses are lacking. Here we provide a comprehensive picture of the genome and transcriptome of inflammatory leiomyosarcoma by combining cytogenetic, single-nucleotide polymorphism array, mRNA-sequencing, and whole-exome sequencing data. The results show that inflammatory leiomyosarcoma has a specific genetic profile characterized by near-haploidization with or without subsequent whole-genome doubling. Consistently, both parental copies of chromosomes 5 and 22 are preserved. Apart from recurrent mutation of the NF1 gene, additional somatic events that could serve as driver mutations were not found at either the nucleotide or the genome level. Furthermore, no fusion transcripts were identified. Global gene expression profiling revealed particularly prominent differential expression of genes, including ITGA7, MYF5, MYF6, MYOD1, MYOG, and PAX7, involved in muscle development and function, providing strong argument for grouping inflammatory leiomyosarcoma with myogenic sarcomas, rather than with myofibroblastic lesions. Combined with previously published data, there are now 10 cases of inflammatory leiomyosarcoma with confirmed near-haploid genotype. These patients differ from leiomyosarcoma patients in being younger (median 41 years), showing a male predominance (9:1), and few relapses (1 of 8 informative patients). Thus, the clinical, morphological, and genetic data provide compelling support for inflammatory leiomyosarcoma being a distinct subtype of myogenic tumors.
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