LAMTOR1-PRKCD and NUMA1-SFMBT1 fusion genes identified by RNA sequencing in aneurysmal benign fibrous histiocytoma with t(3;11)(p21;q13)

Ioannis Panagopoulos; Ludmila Gorunova; Bodil Bjerkehagen; Ingvild Lobmaier; Sverre Heim

doi:10.1016/j.cancergen.2015.07.007

LAMTOR1-PRKCD and NUMA1-SFMBT1 fusion genes identified by RNA sequencing in aneurysmal benign fibrous histiocytoma with t(3;11)(p21;q13)

Cancer Genet. 2015 Nov;208(11):545-51. doi: 10.1016/j.cancergen.2015.07.007. Epub 2015 Aug 3.

Authors

Ioannis Panagopoulos¹, Ludmila Gorunova², Bodil Bjerkehagen³, Ingvild Lobmaier³, Sverre Heim⁴

Affiliations

¹ Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway. Electronic address: ioannis.panagopoulos@rr-research.no.
² Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
³ Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
⁴ Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway; Faculty of Medicine, University of Oslo, Oslo, Norway.

PMID: 26432191
DOI: 10.1016/j.cancergen.2015.07.007

Abstract

RNA sequencing of an aneurysmal benign fibrous histiocytoma with the karyotype 46,XY,t(3;11)(p21;q13),del(6)(p23)[17]/46,XY[2] showed that the t(3;11) generated two fusion genes: LAMTOR1-PRKCD and NUMA1-SFMBT1. RT-PCR together with Sanger sequencing verified the presence of fusion transcripts from both fusion genes. In the LAMTOR1-PRKCD fusion, the part of the PRKCD gene coding for the catalytic domain of the serine/threonine kinase is under control of the LAMTOR1 promoter. In the NUMA1-SFMBT1 fusion, the part of the SFMBT1 gene coding for two of four malignant brain tumor domains and the sterile alpha motif domain is controlled by the NUMA1 promoter. The data support a neoplastic genesis of aneurysmal benign fibrous histiocytoma and indicate a pathogenetic role for LAMTOR1-PRKCD and NUMA1-SFMBT1.

Keywords: Aneurysmal benign fibrous histiocytoma; LAMTOR1-PRKCD; NUMA1-SFMBT1; RNA sequencing; cytogenetics; fusion genes.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aneurysm / genetics*
Aneurysm / pathology
Antigens, Nuclear / genetics
Carrier Proteins / genetics
Cell Cycle Proteins
Chromosomes, Human, Pair 11 / genetics
Chromosomes, Human, Pair 3 / genetics
Histiocytoma, Benign Fibrous / genetics*
Histiocytoma, Benign Fibrous / pathology
Humans
Intracellular Signaling Peptides and Proteins
Male
Nuclear Matrix-Associated Proteins / genetics
Oncogene Fusion*
Protein Kinase C-delta / genetics
Repressor Proteins / genetics
Sequence Analysis, RNA / methods*
Translocation, Genetic*

Substances

Antigens, Nuclear
Carrier Proteins
Cell Cycle Proteins
Intracellular Signaling Peptides and Proteins
LAMTOR1 protein, human
NUMA1 protein, human
Nuclear Matrix-Associated Proteins
Repressor Proteins
SFMBT1 protein, human
PRKCD protein, human
Protein Kinase C-delta