4.5 Article

Recurrent KAT6B/A::KANSL1 Fusions Characterize a Potentially Aggressive Uterine Sarcoma Morphologically Overlapping With Low-grade Endometrial Stromal Sarcoma

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Cell Biology

MDS/MPN-Unclassifiable with t(X;17)(q28;q21) and KANSL1-MTCP1/CMC4 Fusion Gene

Peter Molony et al.

Summary: In this study, we report for the first time a case of MDS/MPN-U with a rare t(X;17)(q28;q21) chromosomal rearrangement leading to the KANSL1-MTCP1 fusion gene. This finding unveils a novel genetic alteration in MDS/MPN-U.

CYTOGENETIC AND GENOME RESEARCH (2022)

Review Oncology

NTRK and other recently described kinase fusion positive uterine sarcomas: A review of a group of rare neoplasms

Sabrina Croce et al.

Summary: The landscape of uterine sarcomas has greatly expanded in recent years, including some potentially clinically actionable molecular events. These rare neoplasms have overlapping morphology and immunohistochemical features, with variable clinical outcomes.

GENES CHROMOSOMES & CANCER (2021)

Review Oncology

An update of molecular findings in uterine tumor resembling ovarian sex cord tumor and GREB1-rearranged uterine sarcoma with variable sex-cord differentiation

Yu-Chien Kao et al.

Summary: UTROSCT is a uterine mesenchymal tumor with recently identified fusion genes involving key genes in sex hormone pathways. While most cases show similar fusions, there is significant clinicopathologic heterogeneity within UTROSCT, possibly correlated with different fusion types.

GENES CHROMOSOMES & CANCER (2021)

Review Oncology

Recent advances in smooth muscle with PGR and PLAG1 gene fusions and myofibroblastic uterine neoplasms

Sarah Chiang

Summary: This review summarizes the morphologic, immunophenotypic, and molecular genetic features of PGR fusion-positive epithelioid leiomyosarcoma, PLAG1 fusion-positive myxoid leiomyosarcoma, and inflammatory myofibroblastic tumors of the uterus.

GENES CHROMOSOMES & CANCER (2021)

Article Multidisciplinary Sciences

Integrated mutational landscape analysis of uterine leiomyosarcomas

Jungmin Choi et al.

Summary: The study analyzed the genetics of uterine leiomyosarcomas and identified recurrent somatic mutations, copy number variations, and gene fusions. Some uLMS may benefit from existing PARP-, PIK3CA-, and C-MYC/BET-targeted drugs.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)

Article Pathology

Clinicopathological and genomic characterization of BCORL1-driven high-grade endometrial stromal sarcomas

Douglas Lin et al.

Summary: BCORL1-altered uterine sarcomas show clinical and histological similarities to BCOR-ESS, with unique morphological features such as spindle and epithelioid components, myxoid stroma, collagen plaques or fibrosis, and high-grade nuclear atypia. These tumors may mimic myxoid leiomyosarcomas and have potential therapeutic targets including CDK4 amplification, CDKN2A loss, NF1 alterations, and NF2-mTOR pathway alterations.

MODERN PATHOLOGY (2021)

Review Cell Biology

Uterine mesenchymal tumours: recent advances

Amir Momeni-Boroujeni et al.

HISTOPATHOLOGY (2020)

Article Pathology

Uterine Tumor Resembling Ovarian Sex Cord Tumor A Distinct Entity Characterized by Recurrent NCOA2/3 Gene Fusions

Brendan C. Dickson et al.

AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2019)

Article Pathology

PGR Gene Fusions Identify a Molecular Subset of Uterine Epithelioid Leiomyosarcoma With Rhabdoid Features

Sarah Chiang et al.

AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2019)

Article Multidisciplinary Sciences

Detection of novel fusion-transcripts by RNA-Seq in T-cell lymphoblastic lymphoma

Pilar Lopez-Nieva et al.

SCIENTIFIC REPORTS (2019)

Article Pathology

BCOR Internal Tandem Duplication in High-grade Uterine Sarcomas

Adrian Marino-Enriquez et al.

AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2018)

Article Oncology

Novel EPC1 gene fusions in endometrial stromal sarcoma

Brendan C. Dickson et al.

GENES CHROMOSOMES & CANCER (2018)

Article Pathology

Uterine Inflammatory Myofibroblastic Tumors Frequently Harbor ALK Fusions With IGFBP5 and THBS1

Josh D. Haimes et al.

AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2017)

Review Oncology

Malignant mesenchymal tumors of the uterus - time to advocate a genetic classification

Birgit Rommel et al.

EXPERT REVIEW OF ANTICANCER THERAPY (2016)

Article Obstetrics & Gynecology

Sarcoma of the Uterus. Guideline of the DGGG (S2k-Level, AWMF Registry No. 015/074, August 2015)

D. Denschlag et al.

GEBURTSHILFE UND FRAUENHEILKUNDE (2015)

Article Pathology

Cyclin D1 as a Diagnostic Immunomarker for Endometrial Stromal Sarcoma With YWHAE-FAM22 Rearrangement

Cheng-Han Lee et al.

AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2012)

Article Genetics & Heredity

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

Marcella Zollino et al.

NATURE GENETICS (2012)

Letter Biotechnology & Applied Microbiology

Integrative genomics viewer

James T. Robinson et al.

NATURE BIOTECHNOLOGY (2011)

Review Microbiology

Acetylation of histones and transcription-related factors

DE Sterner et al.

MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS (2000)