ArticleNeoplasia (New York, N.Y.)2012
Retained heterodisomy is associated with high gene expression in hyperhaploid inflammatory leiomyosarcoma.
Article in Neoplasia (New York, N.Y.), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 34 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
- A Rare Case of A Low-Grade Inflammatory Leiomyosarcoma/Histiocyte-Rich Rhabdomyoblastic Tumor in the Neck of An Adolescent Male.Turk patoloji dergisi · 2023Article
- 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
- "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
- 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
- Poor overall survival in hyperhaploid multiple myeloma is defined by double-hit bi-allelic inactivation ofOncotarget · 2019Article
- Inflammatory leiomyosarcoma is a distinct tumor characterized by near-haploidization, few somatic mutations, and a primitive myogenic gene expression signature.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2018Article
- Long-lasting activity of trabectedin in refractory uterine leiomyosarcoma: a case report.BMC cancer · 2015Article
- Genetic and epigenetic characterization of hypodiploid acute lymphoblastic leukemia.Oncotarget · 2015Article
- Deep sequencing and SNP array analyses of pediatric T-cell acute lymphoblastic leukemia reveal NOTCH1 mutations in minor subclones and a high incidence of uniparental isodisomies affecting CDKN2A.Journal of hematology & oncology · 2015Article
- Cancer subclonal genetic architecture as a key to personalized medicine.Neoplasia (New York, N.Y.) · 2013Article
- Overcoming intratumor heterogeneity of polygenic cancer drug resistance with improved biomarker integration.Neoplasia (New York, N.Y.) · 2012Article
- Genetic Pathways in Peritoneal Mesothelioma Tumorigenesis.Cancer genomics & proteomicsArticle
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inflammatory leiomyosarcoma (ILMS) is a soft tissue tumor that morphologically resembles conventional leiomyosarcoma (LMS) admixed with a prominent inflammatory infiltrate. Genetic data on ILMS are still limited but have suggested that this entity is characterized by hyperhaploidy (24-34 chromosomes). This low chromosome number is otherwise uncommon in neoplasia and has been found only in 0.2% to 0.3% of cytogenetically investigated tumors. Here, three ILMS were investigated using cytogenetic, single-nucleotide polymorphism (SNP) array, and global gene expression analyses. All cases displayed a hyperhaploid origin. Combined with previously reported cases, hyperhaploidy has been found in six of seven cytogenetically investigated ILMS. The copy number distribution of individual chromosomes is clearly nonrandom; the hyperhaploid clones of all six cases displayed disomy for chromosomes 5 and 20, and two copies of chromosomes 18, 21, and 22 were also common. All chromosomes identified as disomic showed a biparental origin by SNP array analysis; whether this is of pathogenetic importance is not known. Compared with conventional LMS, ILMS had a distinct gene expression signature. Furthermore, the number of chromosome copies correlated well with gene expression levels; disomic chromosomes showed higher gene expression levels than monosomic chromosomes, a finding that has not previously been reported for hyperhaploid tumors. Taken together, our findings suggest that disomy for some chromosomes, notably 5 and 20, as well as distorted gene expression achieved through massive loss of other chromosomes are essential features of ILMS.
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