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PUM1-PLAG1 Fusion FISH Probe

The PUM1-PLAG1 Fusion FISH Probe is used to confirm a fusion of the PUM1 and PLAG1 genes. The fusion of the PUM1 and PLAG1 genes has been associated with Sarcoma. These probes are FISH confirmed on normal peripheral blood in both interphase nuclei and metaphase spreads before shipment. Typical turnaround time for this product is 7-14 days after purchase.

** This product is for in vitro and research use only. This product is not intended for diagnostic use.

Turnaround Time: 7-10 Business Days    Shipping Time: 1-2 Day Expedited Shipping
Download Datasheet Download FISH Protocol Download Material Safety Data Sheet

SKU Test Kits Buffer Dye Color Order Now
PUM1-PLAG1-20-ORGR  (Standard Design) 20 (40 μL) 200 μL
PUM1-PLAG1-20-RERE 20 (40 μL) 200 μL
PUM1-PLAG1-20-REOR 20 (40 μL) 200 μL
PUM1-PLAG1-20-REGO 20 (40 μL) 200 μL
PUM1-PLAG1-20-REGR 20 (40 μL) 200 μL
PUM1-PLAG1-20-REAQ 20 (40 μL) 200 μL
PUM1-PLAG1-20-ORRE 20 (40 μL) 200 μL
PUM1-PLAG1-20-OROR 20 (40 μL) 200 μL
PUM1-PLAG1-20-ORGO 20 (40 μL) 200 μL
PUM1-PLAG1-20-ORAQ 20 (40 μL) 200 μL
PUM1-PLAG1-20-GORE 20 (40 μL) 200 μL
PUM1-PLAG1-20-GOOR 20 (40 μL) 200 μL
PUM1-PLAG1-20-GOGO 20 (40 μL) 200 μL
PUM1-PLAG1-20-GOGR 20 (40 μL) 200 μL
PUM1-PLAG1-20-GOAQ 20 (40 μL) 200 μL
PUM1-PLAG1-20-GRRE 20 (40 μL) 200 μL
PUM1-PLAG1-20-GROR 20 (40 μL) 200 μL
PUM1-PLAG1-20-GRGO 20 (40 μL) 200 μL
PUM1-PLAG1-20-GRGR 20 (40 μL) 200 μL
PUM1-PLAG1-20-GRAQ 20 (40 μL) 200 μL
PUM1-PLAG1-20-AQRE 20 (40 μL) 200 μL
PUM1-PLAG1-20-AQOR 20 (40 μL) 200 μL
PUM1-PLAG1-20-AQGO 20 (40 μL) 200 μL
PUM1-PLAG1-20-AQGR 20 (40 μL) 200 μL
PUM1-PLAG1-20-AQAQ 20 (40 μL) 200 μL

PLAG1 Gene Summary

Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Gene Name: PLAG1 Zinc Finger

Chromosome: CHR8: 57073467 -57123859

Locus: 8q12.1

PUM1 Gene Summary

This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Gene Name: Pumilio RNA Binding Family Member 1

Chromosome: CHR1: 31404352 -31538564

Locus: 1p35.2

Gene Diseases

The PUM1 PLAG1 Fusion has been associated with the following diseases:

Disease Name
Sarcoma

FISH Probe Protocols

Protocol, Procedure, or Form Name Last Modified Download

Epithelial-Myoepithelial Carcinoma Frequent Morphologic and Molecular Evidence of Preexisting Pleomorphic Adenoma, Common HRAS Mutations in PLAG1-intact and HMGA2-intact Cases, and Occasional TP53, FBXW7, and SMARCB1 Alterations in High-grade Cases

There is though to be a relationship between genetic aberrations, preexisting pleomorphic adenoma (PA), and the structural abnormality of epithelial-myoepithelial carcinomas (EMCAs). EMCAs were analyzed on a molecular level for PA by using FISH. FISH analysis was used with our break apart probes to detect PLAG1 and HMGA2 rearrangements. It was found that a relationship was present, as 80% of EMCA arise from PA, and EMCA genetics can vary with the status of PLAG1 and HMGA2.
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Recurrent rearrangements of the PLAG1 and HMGA2 genes in lacrimal gland pleomorphic adenoma and carcinoma ex pleomorphic adenoma

Lacrimal gland tumors are histologically similar to salivary gland tumors. In the salivary glands, pleomorphic adenoma (PA) and carcinoma ex pleomorphic adenoma (ca_ex_PA) are both characterized by PLAG1 and HMGA2 gene rearrangements. However, it is not known if these rearrangements are present in lacrimal gland PA and ca_ex_PA. FISH analysis was done with our PLAG1, HMGA2, and NFIB break apart probes. It was found that rearrangements were frequent in the tested lacrimal glands and that testing for the rearrangement can help in distinguishing lacrimal gland PA and ca_ex_PA from de novo carcinomas.
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Plasmacytoid cells in salivary pleomorphic adenoma. An alternative interpretation of their immunohistochemical characteristics highlights function and capability for epithelial-mesenchymal transition

Plasmacytoid cells (PLCs) are frequently reported components of salivary pleomorphic adenoma (SPA), and regarded as modified myoepithelial cells. In rare cases where a SPA is composed mostly of PLCs, the neoplasm is referred to as plasmacytoid myoepithelioma (pMYO). A genetic hallmark of SPA is rearrangement of PLAG1. In this study, 3 pMYOS were analyzed for PLAG1 translocations using Empire Genomics’ PLAG1 break apart probe, to determine whether this aberration is shared by both tumor types. PLAG1 was found rearranged in 1 out of 3 pMYOs.
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Molecular Diagnostics in Pediatric Cytopathology

Compared to adult neoplasms, only a small portion of pediatric tumors display large epithelioid morphology, including certain salivary gland, thyroid, hepatic, and head and neck tumors. FISH testing can be used to elucidate the identity of these cancers in pediatric and adolescent patients, as many of these tumor types harbor characteristic translocations. One of the cases in this book involved FISH analysis of an 18-year-old boy’s parotid gland lesion. Empire Genomics’ PLAG1 dual-color break-apart probe was used to test for PLAG1 gene rearrangements. Results were positive, clarifying the tumor’s identity as pleomorphic adenoma or benign mixed tumor.
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Metastasizing Pleomorphic Adenoma: Recurrent PLAG1/HMGA2 Rearrangements and Identification of a Novel HMGA2-TMTC2 Fusion

Pleomorphic adenoma (PA), although considered benign, can undergo malignant transformation, and metastatic cases are well documented. There is a lack of research on genetic characterization of metastasizing versus benign PA. In this study, four cases of metastasizing PAs were cytogenetically profiled using both RNA sequencing and FISH. PLAG1 and HMGA2 break-apart probes from Empire Genomics were used to confirm rearrangements of the genes. PLAG1 rearrangements were detected in all four cases. Results demonstrated that MPA harbors the same disease-defining molecular hallmarks as their benign counterparts.
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Three Novel Aberrations Involving PLAG1 Leading to Lipoblastoma in Three Different Patients: High Amplification, Partial Deletion, and a Unique Complex Rearrangement

Lipoblastoma is a rare benign neoplasm that can be difficult to histologically distinguish from other lipomatous tumors. PLAG1 aberrations are recurrent in lipoblastoma. The subjects of this study were 3 pediatric lipoblastoma patients with varying types of PLAG1 aberrations (including deletions, amplifications, and rearrangements), all which resulted in different modes of PLAG1 upregulation. Our PLAG1 break apart probe was used to detect PLAG1 rearrangements in the tumors.
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Fluorescence in situ Hybridization in Cytopathology

This textbook – Modern Techniques in Cytopathology – references our PLAG1 break apart probe for detecting PLAG1 rearrangements in epithelial cells. The chapter focuses specifically on FISH, expanding on the different types of mutations that can be detected with FISH, including examples of several disease-specific mutations with accompanying probe recommendations.
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Giant Cell Carcinosarcoma of the Parotid Gland With a PLAG1 Translocation in Association With a Pleomorphic Adenoma With HMGA2 Translocation: A Case Report and Fluorescence In Situ Hybridization Study

This case study looked at a parotid gland carcinosarcoma in a 77 year old patient. Our PLAG1 and HMGA2 break apart probes were used to detect rearrangements of the genes in both the carcinomatous and sarcomatous components of his tumor, to determine whether they harbored different genetic lesions. Both components were positive for PLAG1 and negative for HMGA2 translocations.
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