Bilateral Lung Metastases From a Phalangeal Giant Cell Tumor of Bone

被引：2

作者：

Orr, Annie ^{[1
]}

Liu, Huifei ^{[2
]}

Mariani, Rachel ^{[2
]}

Aldrink, Jennifer H. ^{[3
]}

Setty, Bhuvana A. ^{[4
]}

Koo, Selene ^{[2
]}

机构：

[1] Ohio State Univ, Coll Med, Columbus, OH 43210 USA

[2] Ohio State Univ, Coll Med, Dept Pathol & Lab Med, Nationwide Childrens Hosp, Columbus, OH 43210 USA

[3] Ohio State Univ, Coll Med, Dept Surg, Div Pediat Surg,Nationwide Childrens Hosp, Columbus, OH 43210 USA

[4] Ohio State Univ, Coll Med, Dept Hematol Oncol, Div Pediat,BMT,Nationwide Childrens Hosp, Columbus, OH 43210 USA

来源：

PEDIATRIC AND DEVELOPMENTAL PATHOLOGY | 2021年 / 24卷 / 01期

关键词：

giant cell tumor of bone; pulmonary metastasis; eosinophilia; metastasectomy; H3F3A MUTATIONS;

D O I：

10.1177/1093526620964351

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

We describe a rare pediatric case of a phalangeal giant cell tumor of bone with extensive bilateral lung metastases following curettage, wide resection, and amputation. Concurrent peripheral blood eosinophilia and pleural effusion with marked eosinophilia (47%) were present. To discover genetic changes driving tumor metastasis, genomic and transcriptome profiling of the metastatic lung mass as well as germline analysis were performed. Whole exome sequencing detected a histoneH3F3Ap.G35V missense mutation in tumor cells. RNA sequencing revealed overexpression of receptor activator of nuclear factor kappa-B ligand (RANKL). The patient is alive with no residual disease and uncompromised respiratory function 29 months after amputation of primary tumor and 19 months after surgical resection of his metastatic lung disease.

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收藏

页码：51 / 55

页数：5

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