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本文引用的文献

1
Mutant IDH1 Depletion Downregulates Integrins and Impairs Chondrosarcoma Growth.突变型异柠檬酸脱氢酶1缺失下调整合素并损害软骨肉瘤生长。
Cancers (Basel). 2020 Jan 6;12(1):141. doi: 10.3390/cancers12010141.
2
Activation of hedgehog signaling in mesenchymal stem cells induces cartilage and bone tumor formation via Wnt/β-Catenin. hedgehog 信号通路在间充质干细胞中的激活通过 Wnt/β-连环蛋白诱导软骨和骨肿瘤的形成。
Elife. 2019 Sep 4;8:e50208. doi: 10.7554/eLife.50208.
3
IDH1 immunohistochemistry reactivity and mosaic IDH1 or IDH2 somatic mutations in pediatric sporadic enchondroma and enchondromatosis.在儿童散发性软骨瘤和软骨母细胞瘤中，IDH1 免疫组织化学反应性和 IDH1 或 IDH2 体细胞突变的镶嵌现象。
Virchows Arch. 2019 Nov;475(5):625-636. doi: 10.1007/s00428-019-02606-9. Epub 2019 Jun 25.
4
Inactivation of in postnatal chondrocytes leads to epiphyseal growth-plate abnormalities and promotes enchondroma-like formation.在出生后的软骨细胞中失活导致骺板生长板异常，并促进软骨瘤样形成。
FASEB J. 2019 Aug;33(8):9476-9488. doi: 10.1096/fj.201900294RR. Epub 2019 May 15.
5
Intracellular cholesterol biosynthesis in enchondroma and chondrosarcoma.软骨瘤和软骨肉瘤中的细胞内胆固醇生物合成。
JCI Insight. 2019 Apr 30;5(11):127232. doi: 10.1172/jci.insight.127232.
6
A radical switch in clonality reveals a stem cell niche in the epiphyseal growth plate.克隆性的根本转变揭示了骺板中的干细胞龛位。
Nature. 2019 Mar;567(7747):234-238. doi: 10.1038/s41586-019-0989-6. Epub 2019 Feb 27.
7
FDA Approval Summary: Ivosidenib for Relapsed or Refractory Acute Myeloid Leukemia with an Isocitrate Dehydrogenase-1 Mutation.美国食品和药物管理局批准概要：ivosidenib 用于携带异柠檬酸脱氢酶-1 突变的复发性或难治性急性髓系白血病。
Clin Cancer Res. 2019 Jun 1;25(11):3205-3209. doi: 10.1158/1078-0432.CCR-18-3749. Epub 2019 Jan 28.
8
Resting zone of the growth plate houses a unique class of skeletal stem cells.骺板静止区存在一类独特的骨骼干细胞。
Nature. 2018 Nov;563(7730):254-258. doi: 10.1038/s41586-018-0662-5. Epub 2018 Oct 31.
9
Identification of the Human Skeletal Stem Cell.人成体干细胞的鉴定
Cell. 2018 Sep 20;175(1):43-56.e21. doi: 10.1016/j.cell.2018.07.029.
10
Intracellular biosynthesis of lipids and cholesterol by Scap and Insig in mesenchymal cells regulates long bone growth and chondrocyte homeostasis.间质细胞中 Scap 和 Insig 介导的脂质和胆固醇的细胞内生物合成调节长骨生长和软骨细胞稳态。
Development. 2018 Jul 9;145(13):dev162396. doi: 10.1242/dev.162396.

软骨瘤病与生长板发育。

Enchondromatosis and Growth Plate Development.

机构信息

Department of Orthopaedic Surgery, Duke University School of Medicine, Durham, NC, 27710, USA.

Department of Cell Biology, Duke University School of Medicine, Durham, NC, 27710, USA.

出版信息

Curr Osteoporos Rep. 2021 Feb;19(1):40-49. doi: 10.1007/s11914-020-00639-7. Epub 2020 Dec 11.

DOI:10.1007/s11914-020-00639-7
PMID:33306166
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7935756/
Abstract

PURPOSE OF REVIEW

Enchondroma is a common cartilage benign tumor that develops from dysregulation of chondrocyte terminal differentiation during growth plate development. Here we provide an overview of recent progress in understanding causative mutations for enchondroma, dysregulated signaling and metabolic pathways in enchondroma, and the progression from enchondroma to malignant chondrosarcoma.

RECENT FINDINGS

Several signaling pathways that regulate chondrocyte differentiation are dysregulated in enchondromas. Somatic mutations in the metabolic enzymes isocitrate dehydrogenase 1 and 2 (IDH1/2) are the most common findings in enchondromas. Mechanisms including metabolic regulation, epigenetic regulation, and altered signaling pathways play a role in enchondroma formation and progression. Multiple pathways regulate growth plate development in a coordinated manner. Deregulation of the process can result in chondrocytes failing to undergo differentiation and the development of enchondroma.

摘要

目的综述

内生软骨瘤是一种常见的软骨良性肿瘤，起源于生长板发育过程中软骨细胞终末分化的失调。本文概述了近年来对内生软骨瘤发病相关突变、失调信号和代谢通路的认识，以及内生软骨瘤向恶性软骨肉瘤进展的过程。

最近发现

几种调节软骨细胞分化的信号通路在内生软骨瘤中失调。代谢酶异柠檬酸脱氢酶 1 和 2（IDH1/2）的体细胞突变是内生软骨瘤中最常见的发现。代谢调节、表观遗传调节和改变的信号通路在内生软骨瘤的形成和进展中起作用。多个通路以协调的方式调节生长板发育。该过程的失调可导致软骨细胞无法进行分化，并形成内生软骨瘤。