Study: JGAS00000000150

Identifier

AccessionJGAS00000000150

Description

TitleGenetic and transcriptional landscape of plasma cells in POEMS syndrome
AbstractPOEMS syndrome is a rare paraneoplastic disease, associated with monoclonal plasma cells whose pathogenic importance remains unclear. We performed comprehensive genetic analyses of plasma cells in 20 patients with POEMS syndrome. Whole exome sequencing and targeted sequencing identified 7 recurrently mutated genes: KLHL6, LTB, EHD1, EML4, HEPHL1, HIPK1, and PCDH10. None of the driver gene mutations frequently found in multiple myeloma (MM) such as NRAS, KRAS, BRAF, and TP53 was detected. Copy number analysis showed chromosomal abnormalities shared with monoclonal gammopathy of undetermined significance (MGUS). RNA sequencing revealed a transcription profile specific to POEMS syndrome, especially in terms of tumorigenesis. Unexpectedly, disease-specific VEGFA expression was not increased in POEMS syndrome. Our study illustrates that the genetic and transcriptional profiles of plasma cells in POEMS syndrome are distinct from MM and MGUS, indicating its unique pathogenesis.
Study Type 1
Study TypeTranscriptome Sequencing
Study Type 2
Study TypeExome Sequencing
Study Type 3
Study TypeOther
New Study TypeTargeted-seq

Grant

Grant 1
TitleGenetic and transcriptional landscape of plasma cells in POEMS syndrome
Agencythe Japan Society for the Promotion of Science KAKENHI ()
Grant ID26461397
Grant 2
TitleClonal immunoglobulin lamda light-chain gene rearrangements detected by NGS in POEMS syndrome
Agencythe Japan Society for the Promotion of Science KAKENHI ()
Grant ID15

Publication

PubMed ID30635632
Publication Statuspublished
DB TypePUBMED

Study Attribute

NBDC Numberhum0130
Registration date2018-08-29
Submitting organizationDepartment of Hematology, Chiba University Hospital, Chiba, Japan
Principal InvestigatorEmiko Sakaida
Molecular Data TypeTranscriptome Sequencing
PlatformIllumina HiSeq 1500
VendorIllumina
Comment
Molecular Data TypeExome Sequencing
PlatformIllumina HiSeq 2500
VendorIllumina
Comment
Molecular Data TypeTargeted-seq
PlatformMiSeq
VendorIllumina
Comment
Primary PhenotypeAbnormality of blood and blood-forming tissues
PhenotypeHematological neoplasm
Dataset
Accession Title Dataset type Data objects Policy
JGAD00000000226 Genetic and transcriptional landscape of plasma cells in POEMS syndrome 76 JGAP00000000001