Lanceta Joel, Tripodi Joseph, Karp Lynne, Shaham Meira, Mahmood Nayyara, Najfeld Vesna, Edelman Morris, Cohen Ninette
Department of Pathology and Laboratory Medicine, Northwell Health/Donald and Barbara Zucker School of Medicine at Hofstra, Manhasset, New York, USA.
Tumor CytoGenomics, Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Mol Cytogenet. 2023 Nov 27;16(1):32. doi: 10.1186/s13039-023-00665-x.
Lipoblastomas (LPBs) are rare benign neoplasms derived from embryonal adipose that occur predominantly in childhood. LPBs typically present with numeric or structural rearrangements of chromosome 8, the majority of which involve the pleomorphic adenoma gene 1 (PLAG1) proto-oncogene on chromosome 8q12. Here, we report on a LPB case on which showed evidence of chromothripsis. This is the second reported case of chromothripsis in LPB.
脂肪母细胞瘤（LPB）是一种罕见的良性肿瘤，起源于胚胎脂肪组织，主要发生于儿童期。LPB通常伴有8号染色体的数目或结构重排，其中大多数涉及8q12染色体上的多形性腺瘤基因1（PLAG1）原癌基因。在此，我们报告一例显示染色体碎裂证据的LPB病例。这是第二例报道的LPB染色体碎裂病例。
