Ask about this productRelated genes to: PPFIBP1 antibody
- Gene:
- PPFIBP1 NIH gene
- Name:
- PPFIA binding protein 1
- Previous symbol:
- -
- Synonyms:
- L2, hSGT2, hSgt2p, SGT2
- Chromosome:
- 12p11.23-p11.22
- Locus Type:
- gene with protein product
- Date approved:
- 1998-10-23
- Date modifiied:
- 2018-02-13
Related products to: PPFIBP1 antibody
Related articles to: PPFIBP1 antibody
- Lymphatic malformations (LMs) can lead to severe clinical complications, including disfigurement and even death. While genomic alterations have been identified in LMs, the genomic landscape of complex LMs remains poorly defined due to their rarity. In this study, we report two novel findings: an NRAS p.Q61R mutation in central conducting lymphatic anomaly (CCLA) and a PPFIBP1::ROS1 fusion in Gorham-Stout disease (GSD), both described for the first time in their respective LM subtypes. The discovery of the PPFIBP1::ROS1 fusion provided a unique opportunity to localize the somatic event to a specific cell type. Using serial tissue sections from the same specimen, we observed that the fusion signal was spatially associated with lymphatic endothelial cells, based on serial section analysis with D2-40 staining. Given that both NRAS mutations and PPFIBP1::ROS1 fusions have also been identified in other LM subtypes, our findings support the hypothesis that LMs may share common molecular mechanisms. We propose that phenotypic diversity among LM subtypes may arise from differences in developmental timing, anatomic location, and microenvironmental context at the time the somatic mutation occurs. - Source: PubMed
Yang GuangxianRen HaoranWang JinghuaChen WeijianLi XiaomingChen SiChen HuafeiZhao LinaFan WenwenXiao Sheng - There are a few molecules that are regularly used as markers for lymphatic endothelial cells (LECs) such as the adhesion molecule CD31/PEACAM1, the transcription factor PROX1, the Vascular Endothelial Growth Factor Receptor-3 (VEGFR3/), the glycoprotein podoplanin, and the hyaluronan receptor LYVE1. However, none of the molecules are exclusively expressed in LECs, and there is molecular and functional heterogeneity of LECs in initial lymphatics, lymphatic collectors and lymph nodes. Therefore, a combination of markers must be applied to identify lymphatics. This is particularly true for the characterization of conditions such as lymphatic malformations or cancers, in which the molecular profile of vessels may be variable or abnormal. Here we present two molecules that can help distinguish between endothelial cells of blood and lymphatic vessels: the scaffold protein liprin β-1 (PPFIBP1) and the intermediate filament synemin. We collected own data on the RNA and protein expression of the two molecules in humans, and studied publicly available databases. PPFIBP1 appears to be a suitable marker of LECs in initial lymphatics, collectors and lymph nodes, while synemin appears to be more restricted to initial lymphatics. We hope this will stimulate monoclonal antibody development and help expand the range of LEC markers in health and disease. - Source: PubMed
Publication date: 2026/06/10
Becker JürgenWilting Jörg - - Source: PubMed
Publication date: 2026/05/15
Chang JungsooDurgin Joseph SDavis Michael JBreglio Kimberly FPedersen Elisabeth A - Pulmonary spindle cell tumors are aggressive neoplasms with limited systemic treatment options, although a subset may harbor actionable genomic alterations. Because conventional fusion assays may miss rearrangements involving atypical or previously uncharacterized partners, we systematically investigated oncogenic fusions in pulmonary spindle cell tumors using anchored multiplex PCR-based targeted RNA sequencing. Formalin-fixed, paraffin-embedded tumor samples from 11 surgically resected pulmonary spindle cell tumors, excluding metastatic sarcomas, were analyzed using the FusionPlex Sarcoma panel supplemented with custom primers for RET, NTRK1, NTRK2, and NRG1. Two tumors (18.2%) harbored ALK fusions, identified as PPFIBP1::ALK and SYCL3::ALK. Both tumors showed positive ALK immunohistochemical staining. Histologically, the PPFIBP1::ALK-positive tumor was composed of spindle-shaped cells with a layered architecture, whereas the SYCL3::ALK-positive tumor showed relatively round cells arranged in clusters with collagenous stroma, highlighting the morphologic heterogeneity of ALK-rearranged pulmonary spindle cell tumors. These findings expand the molecular spectrum of pulmonary spindle cell tumors and identify rare ALK fusion partners in this setting. Our results support the incorporation of ALK immunohistochemistry as a screening tool and demonstrate the utility of anchored multiplex PCR-based RNA sequencing for the detection of therapeutically relevant fusions, particularly those with uncommon partners. This integrated approach may refine the diagnosis and support consideration of ALK-directed therapy in these rare tumors. - Source: PubMed
Masago KatsuhiroSeto KatsutoshiSasaki EiichiFujita YasukoFujita ShiroHorio YoshitsuguMatsushita HirokazuKuroda Hiroaki - Plaque-like CD34-positive dermal fibroma (PDF), previously termed medallion-like dermal dendrocyte hamartoma, is a rare CD34-positive superficial spindle cell fibroblastic tumour that may closely mimic dermatofibrosarcoma protuberans. Recent studies have identified recurrent kinase gene fusions in a subset of congenital and paediatric CD34-positive plaque-like superficial spindle cell tumours with overlapping clinicopathologic features, highlighting an emerging molecular framework for this group. However, the molecular spectrum of lesions meeting classic histopathologic criteria for PDF remains an area of active investigation. - Source: PubMed
Publication date: 2026/02/26
Cloutier Jeffrey MLee MichaelYeh IweiJour GeorgePanse Gauri