ID

45562

Beschreibung

Principal Investigator: Adolfo Ferrando, Institute for Cancer Genetics, Columbia University, New York, NY, USA MeSH: Lymphoma, T-Cell, Peripheral,Lymphoma, Non-Hodgkin https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000689 Peripheral T-cell lymphomas (PTCLs) are a heterogeneous and poorly understood group of non Hodgkin lymphomas. We aim to identify new genetic alterations in PTCL transformation by using a combination of whole exome sequencing of tumor-normal DNA pairs, RNAseq analysis and targeted deep sequencing of candidate genes. Our data identified highly recurrent mutations in epigenetic factors such as TET2, DNMT3A and IDH2 as well as a new highly prevalent mutation in RHOA, the G17V allele that is present in almost 70% of angioimmunoblastic T-cell lymphomas (AITL) and almost 20% of not otherwise specified PTCL (PTCL NOS) samples. In addition, we describe new and recurrent genetic defects including mutations in FYN, ATM, B2M and CD58 implicating SRC signaling, impaired DNA damage response and escape from immune surveillance processes as key players in the pathogenesis of PTCL.

Link

dbGaP-study=phs000689

Stichworte

  1. 13.01.23 13.01.23 - Chiara Middel
Rechteinhaber

Adolfo Ferrando, Institute for Cancer Genetics, Columbia University, New York, NY, USA

Hochgeladen am

13. Januar 2023

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs000689 Genomic Analysis of Peripheral T-Cell Lymphomas

Subject ID, sample ID, sample source, sample source ID, and sample use of participants with or without peripheral T-cell lymphomas and involved in the "Genomic Analysis of Peripheral T-Cell Lymphomas" project.

pht003680
Beschreibung

pht003680

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Beschreibung

SUBJECT_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Beschreibung

SAMPLE_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C1299222
Source repository where samples originate
Beschreibung

SAMPLE_SOURCE

Datentyp

string

Alias
UMLS CUI [1,1]
C3847505
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C2347026
Sample ID used in the Source Repository
Beschreibung

SOURCE_SAMPLE_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C1299222
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C0449416
Sample Use
Beschreibung

SAMPLE_USE

Datentyp

text

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063

Ähnliche Modelle

Subject ID, sample ID, sample source, sample source ID, and sample use of participants with or without peripheral T-cell lymphomas and involved in the "Genomic Analysis of Peripheral T-Cell Lymphomas" project.

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht003680
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
SAMPLE_SOURCE
Item
Source repository where samples originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C2347026 (UMLS CUI [1,3])
SOURCE_SAMPLE_ID
Item
Sample ID used in the Source Repository
string
C1299222 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])
SAMPLE_USE
Item
Sample Use
text
C2347026 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])

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