肿瘤遗传改变的描述越来越重要。在人类遗传学中,在病理报告中,使用人类基因组变异社会(HGVS)指南对此类变异进行描述。然而,关于组蛋白基因序列变异的这些指南的遵守程度较低.由于大多数组蛋白中N末端甲硫氨酸的早期裂解,组蛋白序列改变的描述遵循它们自己的命名法,并且通过省略该第一个氨基酸而不同于HGVS兼容编号。下一代测序报告,然而,遵循HGVS指南,因此,无法提供组蛋白中序列变异的明确描述.这两种命名法的共存导致病理学家的困惑,肿瘤学家,和研究人员。这篇综述提供了具有H3-3A基因序列改变的肿瘤实体的概述(HGNCID=HGNC:4764),突出了与这两个术语共存相关的问题,并提出了一种用于报告组蛋白序列变体的标准,该标准允许根据HGVS原理对这些变体进行明确描述。我们希望科学期刊采用新的符号,遗传学家和病理学家都将把它包含在他们的报告中。©2021作者由JohnWiley&Sons出版的病理学杂志,有限公司代表大不列颠及爱尔兰病理学会。
The description of genetic alterations in tumours is of increasing importance. In human genetics, and in pathology reports, sequence alterations are given using the human genome variation society (HGVS)
guidelines for the description of such variants. However, there is less adherence to these
guidelines for sequence variations in
histone genes. Due to early cleavage of the N-terminal methionine in most histones, the description of
histone sequence alterations follows their own nomenclature and differs from the HGVS-compliant numbering by omitting this first amino acid. Next generation sequencing reports, however, follow the HGVS
guidelines and as a result, an unambiguous description of sequence variants in histones cannot be provided. The coexistence of these two nomenclatures leads to confusions for pathologists, oncologists, and researchers. This review provides an overview of tumour entities with sequence alterations of the H3-3A gene (HGNC ID = HGNC:4764), highlights the problems associated with the coexistence of these two nomenclatures, and proposes a standard for the reporting of
histone sequence variants that allows an unambiguous description of these variants according to HGVS principles. We hope that scientific journals will adopt the new notation, and that both geneticists and pathologists will include it in their reports. © 2021 The Authors. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland.