新型PRSS44::ALK融合的拇指骨母细胞瘤及手足骨母细胞瘤文献综述。

IF 3.1 2区医学 Q2 GENETICS & HEREDITY

Genes, Chromosomes & Cancer Pub Date : 2024-05-13 DOI:10.1002/gcc.23241

Andrew I. Brandea, Michelle Afkhami, Michael J. Klein, Diana Bell

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引用次数: 0

摘要

骨母细胞瘤（OB）是一种良性肿瘤，约占原发性骨肿瘤的 1%，好发于脊柱和骶骨。我们描述了一名 38 岁女性左手拇指近节指骨的骨母细胞瘤。左手核磁共振成像显示，29 毫米轻度扩张性增强病变累及整个第一指骨近节。组织学检查显示，这是一种骨形成肿瘤，由重塑的编织骨小梁组成，骨小梁由血管化背景中的丰满成骨细胞构成。下一代测序分析确定了一个 PRSS44::ALK 融合基因。

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Osteoblastoma of the thumb with a novel PRSS44::ALK fusion and literature review of osteoblastoma of hands and feet bones

Osteoblastomas (OBs) are benign neoplasms constituting approximately 1% of primary bone tumors with a predilection for the spine and sacrum. We describe an OB of the proximal phalanx of the left thumb in a 38-year-old female. MRI of left hand demonstrated a 29-mm mildly expansile enhancing lesion involving the entire proximal phalanx of the first digit. Histology displayed a bone-forming tumor consisting of trabeculae of remodeled woven bone framed by plump osteoblasts in a vascularized background. Next-generation sequencing analysis identified a PRSS44::ALK fusion gene.

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来源期刊

Genes, Chromosomes & Cancer 医学-遗传学

CiteScore

7.00

自引率

8.10%

发文量

审稿时长

4-8 weeks

期刊介绍： Genes, Chromosomes & Cancer will offer rapid publication of original full-length research articles, perspectives, reviews and letters to the editors on genetic analysis as related to the study of neoplasia. The main scope of the journal is to communicate new insights into the etiology and/or pathogenesis of neoplasia, as well as molecular and cellular findings of relevance for the management of cancer patients. While preference will be given to research utilizing analytical and functional approaches, descriptive studies and case reports will also be welcomed when they offer insights regarding basic biological mechanisms or the clinical management of neoplastic disorders.