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病例报告：一名足月儿出现自发性肠穿孔的梭形细胞肿瘤。

Case report: Spindle cell neoplasm presenting as a spontaneous intestinal perforation in a term infant.

作者信息

Callaghan Lauren T, Lafreniere Anthea, Onwuka Ekene A, Beckman Ross M, Foster Jennifer H, Quintanilla Norma, Guillory Charleta, Lee Timothy C, Cheng Lily S

机构信息

Baylor College of Medicine, Houston, TX, United States.

Texas Children's Hospital, Houston, TX, United States.

出版信息

Front Pediatr. 2022 Aug 26;10:952023. doi: 10.3389/fped.2022.952023. eCollection 2022.

DOI:10.3389/fped.2022.952023
PMID:36090580
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9458873/
Abstract

Spontaneous intestinal perforations in the neonatal population are mostly associated with low birth weight, prematurity, and necrotizing enterocolitis. Spontaneous intestinal perforation in the absence of these risk factors is extremely rare and should raise clinical concern for an underlying bowel pathology. Here we present a unique case of a normal-weight, full-term girl with spontaneous intestinal perforation due to a spindle cell neoplasm with a novel mutation and infantile fibrosarcoma-like morphology. Though rare, malignancy should be considered in the differential diagnosis for bowel perforation in an otherwise healthy, term infant as complete surgical excision can be curative.

摘要

新生儿自发性肠穿孔大多与低出生体重、早产和坏死性小肠结肠炎有关。在没有这些危险因素的情况下发生自发性肠穿孔极为罕见，应引起临床对潜在肠道病变的关注。在此，我们报告一例独特病例，一名体重正常、足月的女孩因一种具有新突变和婴儿纤维肉瘤样形态的梭形细胞瘤发生自发性肠穿孔。尽管罕见，但对于健康足月婴儿的肠穿孔鉴别诊断应考虑恶性肿瘤，因为完整的手术切除可能治愈。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9968/9458873/6663e1b90636/fped-10-952023-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9968/9458873/e9b8f5f87853/fped-10-952023-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9968/9458873/c4a15fcf43a0/fped-10-952023-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9968/9458873/63e19b262c9f/fped-10-952023-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9968/9458873/6663e1b90636/fped-10-952023-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9968/9458873/e9b8f5f87853/fped-10-952023-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9968/9458873/c4a15fcf43a0/fped-10-952023-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9968/9458873/63e19b262c9f/fped-10-952023-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9968/9458873/6663e1b90636/fped-10-952023-g004.jpg

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Front Pediatr. 2022 Feb 7;10:807607. doi: 10.3389/fped.2022.807607. eCollection 2022.
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Defining RASopathy.定义 RAS opathy。
Dis Model Mech. 2022 Feb 1;15(2). doi: 10.1242/dmm.049344.
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Novel BRAF gene fusions and activating point mutations in spindle cell sarcomas with histologic overlap with infantile fibrosarcoma.
梭形细胞肉瘤具有组织学重叠的婴儿型纤维肉瘤，存在新型 BRAF 基因融合和激活点突变。
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Clinical and molecular spectra of BRAF-associated RASopathy.BRAF 相关 RAS 病的临床和分子谱。
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Prevalence of class I-III BRAF mutations among 114,662 cancer patients in a large genomic database.在一个大型基因组数据库中，114662 例癌症患者中 I-III 类 BRAF 突变的发生率。
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The 2020 WHO Classification: What's New in Soft Tissue Tumor Pathology?2020 年世卫组织分类：软组织肿瘤病理学的新变化？
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