ID

45562

Descrizione

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.

collegamento

dbGaP-study=phs000689

Keywords

  1. 13/01/23 13/01/23 - Chiara Middel
Titolare del copyright

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

Caricato su

13 gennaio 2023

DOI

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Licenza

Creative Commons BY 4.0

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dbGaP phs000689 Genomic Analysis of Peripheral T-Cell Lymphomas

Subject ID, consent group, subject source, subject source ID, and affection status of participants with or without peripheral T-cell lymphomas and involved in the "Genomic Analysis of Peripheral T-Cell Lymphomas" project.

pht003679
Descrizione

pht003679

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

SUBJECT_ID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Descrizione

CONSENT

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0441833
Source repository where subjects originate
Descrizione

SUBJECT_SOURCE

Tipo di dati

string

Alias
UMLS CUI [1,1]
C3847505
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C0681850
Subject ID used in the Source Repository
Descrizione

SOURCE_SUBJECT_ID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C0449416
Case control status of the subject
Descrizione

AFFECTION_STATUS

Tipo di dati

text

Alias
UMLS CUI [1,1]
C3274646

Similar models

Subject ID, consent group, subject source, subject source ID, and affection status of participants with or without peripheral T-cell lymphomas and involved in the "Genomic Analysis of Peripheral T-Cell Lymphomas" project.

Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
pht003679
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
Code List
Consent group as determined by DAC
CL Item
Disease-Specific (Cancer, PUB, MDS) (DS-CA-PUB-MDS) (1)
SUBJECT_SOURCE
Item
Source repository where subjects originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C0681850 (UMLS CUI [1,3])
SOURCE_SUBJECT_ID
Item
Subject ID used in the Source Repository
string
C2348585 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])
Item
Case control status of the subject
text
C3274646 (UMLS CUI [1,1])
Code List
Case control status of the subject
CL Item
Control (1)
C3274648 (UMLS CUI [1,1])
CL Item
Case (2)
C3274647 (UMLS CUI [1,1])

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