ArticlePloS one2015
Novel KAT6B-KANSL1 fusion gene identified by RNA sequencing in retroperitoneal leiomyoma with t(10;17)(q22;q21).
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed.
- Article
- Myxoid epithelioid smooth muscle tumor with a novel MEF2A::NCOA2 fusion arising in the rectum: case report and literature review.Virchows Archiv : an international journal of pathology · 2026Review
- Uterine sarcoma with KAT6B/A::KANSL1 fusion: an evolving entity.Virchows Archiv : an international journal of pathology · 2026Article
- Uterine sarcoma with KAT6B/A::KANSL1 fusion: a molecular and clinicopathological study on 9 cases.Virchows Archiv : an international journal of pathology · 2025Article
- Uterine mesenchymal tumours harboring the KAT6B/A::KANSL1 gene fusion represent a distinct type of uterine sarcoma based on DNA methylation profiles.Virchows Archiv : an international journal of pathology · 2024Article
- Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.Frontiers in genetics · 2023Article
- Retroperitoneal leiomyoma located in the broad ligament: A case report.World journal of clinical cases · 2022Article
- Accurate Detection and Quantification of FLT3 Internal Tandem Duplications in Clinical Hybrid Capture Next-Generation Sequencing Data.The Journal of molecular diagnostics : JMD · 2021Article
- Review
- Integrated mutational landscape analysis of uterine leiomyosarcomas.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Retroperitoneal leiomyoma of gynecologic type: a case report and review of the litterature.Journal of surgical case reports · 2020Article
- Article
- Molecular and clinicopathologic characterization of intravenous leiomyomatosis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- The BRPF1 bromodomain is a molecular reader of di-acetyllysine.Current research in structural biology · 2020Article
- The non-specific lethal (NSL) complex at the crossroads of transcriptional control and cellular homeostasis.EMBO reports · 2019Review
- Leiomyoma with KAT6B-KANSL1 fusion: case report of a rapidly enlarging uterine mass in a postmenopausal woman.Diagnostic pathology · 2019Article
- The overexpression of MYST4 in human solid tumors is associated with increased aggressiveness and decreased overall survival.International journal of clinical and experimental pathology · 2019Article
- The many lives of KATs - detectors, integrators and modulators of the cellular environment.Nature reviews. Genetics · 2019Review
- Genetic heterogeneity in leiomyomas of deep soft tissue.Oncotarget · 2017Article
- KATapulting toward Pluripotency and Cancer.Journal of molecular biology · 2017Review
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Authors and funding
4 authors.
Funding
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Abstract
Retroperitoneal leiomyoma is a rare type of benign smooth muscle tumor almost exclusively found in women and with histopathological features similar to uterine leiomyomas. The pathogenesis of retroperitoneal leiomyoma is unclear and next to nothing is known about the cytogenetics and molecular genetics of the tumor. Here we present the first cytogenetically analyzed retroperitoneal leiomyoma. It had a t(10;17)(q22;q21) as the sole chromosomal abnormality. Using RNA-Sequencing and the 'grep' command to search the fastq files of the sequence data we found that the translocation resulted in fusion of the genes KAT6B (10q22) with KANSL1 (17q21). RT-PCR together with direct (Sanger) sequencing verified the presence of a KAT6B-KANSL1 fusion transcript. No reciprocal KANSL1-KAT6B transcript was amplified suggesting that it was either absent or unexpressed. The KAT6B-KANSL1 fusion transcript consists of exons 1 to 3 of KAT6B and exons 11 to 15 of KANSL1, is 3667 bp long, has a 1398 bp long open reading frame, and codes for a 466 amino acid residue protein. The corresponding KAT6B-KANSL1 protein contains the NEMM domain (including the linker histone H1/H5, domain H15) of KAT6B and the PEHE domain of KANSL1. The function of the fusion protein might be regulation of transcription with an affinity for chromatin (linker histone H1/H5) and interaction with the HAT domain of KAT8 (PEHE domain). The tumor expressed HMGA2 and HMGA1 even though 12q14-15 and 6p looked normal by G-banding analysis. The tumor also expressed MED12 in the absence of exon 2 mutations. Overall, the data show that the examined retroperitoneal leiomyoma resembles a subset of uterine leiomyomas in terms of histology and genetics.
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