ID

45424

Beschreibung

Principal Investigator: Timothy A. Chan, MD, PhD, Memorial Sloan-Kettering Cancer Center, New York, NY MeSH: Cancer,Carcinoma, Adenoid Cystic https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000612 Adenoid cystic carcinoma (ACC) typically emanate from the major and minor salivary glands of the head and neck. ACCs have high rates of perineural invasion, locoregional recurrence, and distant metastasis. Here we report sequencing of 60 tumor/normal pairs and find substantial mutational diversity. On pathway analysis, a significant percentage of mutations involved chromatin remodeling, DNA damage, protein kinase A signaling, and FGF/IGF/PI3K signaling. Whole genome sequencing and FISH confirmed the MYB-NFIB translocation as the main structural variant in ACC. Evaluation of potential driver mutations KDM6A and PIK3CA reveal that specific, observed alterations impart functional consequences. Collectively, our data delineate the ACC mutational landscape and establish a molecular foundation for investigating new therapies for this disease.

Link

dbGaP study = phs000612

Stichworte

Versionen (1)
  1. 25.11.22 25.11.22 - Simon Heim
Rechteinhaber

Timothy A. Chan, MD, PhD, Memorial Sloan-Kettering Cancer Center, New York, NY

Hochgeladen am

25. November 2022

DOI

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Lizenz

Creative Commons BY 4.0
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dbGaP phs000612 The mutational characterization of adenoid cystic carcinoma

Englisch

The dataset contains disease status, (post-surgical) treatment, follow-up time, and age and gender information.

5 Formulare  
pht003528
Beschreibung

pht003528

Alias
UMLS CUI [1,1]
C3846158
De-identified Subject ID
Beschreibung

PATIENT ID

Datentyp

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Disease onset age
Beschreibung

AGES

Datentyp

text

Maßeinheiten
  • Years
Alias
UMLS CUI [1,1]
C0206132
UMLS CUI [1,2]
C0012634
Years
Gender of the participate
Beschreibung

Sex

Datentyp

text

Alias
UMLS CUI [1,1]
C0079399
Stage of the disease
Beschreibung

Stage

Datentyp

text

Alias
UMLS CUI [1,1]
C0699749
Site of the sample
Beschreibung

Site

Datentyp

string

Alias
UMLS CUI [1,1]
C0449705
Presence of perineural invasion
Beschreibung

PERINEURAL_ INVASION

Datentyp

text

Alias
UMLS CUI [1,1]
C1300724
Presence of Angiolymphatic invasion
Beschreibung

Angiolymphatic_invasion

Datentyp

text

Alias
UMLS CUI [1,1]
C1708790
UMLS CUI [1,2]
C0442721
Post-surgery treatment
Beschreibung

Adjuvant_treatment

Datentyp

text

Alias
UMLS CUI [1,1]
C0231290
UMLS CUI [1,2]
C0543467
UMLS CUI [1,3]
C0087111
Subtype of ACC on pathology
Beschreibung

Pathology

Datentyp

text

Alias
UMLS CUI [1,1]
C0449560
UMLS CUI [1,2]
C0010606
UMLS CUI [1,3]
C0030664
MYB-NFIB status on FISH
Beschreibung

MYB-NFIBstatus

Datentyp

text

Alias
UMLS CUI [1,1]
C4330610
UMLS CUI [1,2]
C0162789
Presence of recurrence
Beschreibung

Recurrence

Datentyp

text

Alias
UMLS CUI [1,1]
C2825055
Period in which patients were followed
Beschreibung

F/U_PERIOD(MO)

Datentyp

text

Maßeinheiten
  • Months
Alias
UMLS CUI [1,1]
C4745109
Disease status
Beschreibung

Status

Datentyp

text

Maßeinheiten
  • NED (no evidence of disease) vs. alive with disease vs. dead
Alias
UMLS CUI [1,1]
C5188927
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Ähnliche Modelle

The dataset contains disease status, (post-surgical) treatment, follow-up time, and age and gender information.

5 Formulare
Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht003528
C3846158 (UMLS CUI [1,1])
PATIENT ID
Item
De-identified Subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
AGES
Item
Disease onset age
text
C0206132 (UMLS CUI [1,1])
C0012634 (UMLS CUI [1,2])
Item
Gender of the participate
text
C0079399 (UMLS CUI [1,1])
Sex
Code List
Gender of the participate
CL Item
Female (F)
C0086287 (UMLS CUI [1,1])
CL Item
Male (M)
C0086582 (UMLS CUI [1,1])
Stage
Item
Stage of the disease
text
C0699749 (UMLS CUI [1,1])
Site
Item
Site of the sample
string
C0449705 (UMLS CUI [1,1])
PERINEURAL_ INVASION
Item
Presence of perineural invasion
text
C1300724 (UMLS CUI [1,1])
Item
Presence of Angiolymphatic invasion
text
C1708790 (UMLS CUI [1,1])
C0442721 (UMLS CUI [1,2])
Angiolymphatic_invasion
Code List
Presence of Angiolymphatic invasion
CL Item
Not Applicable (N/A)
C1272460 (UMLS CUI [1,1])
Item
Post-surgery treatment
text
C0231290 (UMLS CUI [1,1])
C0543467 (UMLS CUI [1,2])
C0087111 (UMLS CUI [1,3])
Adjuvant_treatment
Code List
Post-surgery treatment
CL Item
Not Applicable (N/A)
C1272460 (UMLS CUI [1,1])
CL Item
Radiation Therapy (RT)
Pathology
Item
Subtype of ACC on pathology
text
C0449560 (UMLS CUI [1,1])
C0010606 (UMLS CUI [1,2])
C0030664 (UMLS CUI [1,3])
MYB-NFIBstatus
Item
MYB-NFIB status on FISH
text
C4330610 (UMLS CUI [1,1])
C0162789 (UMLS CUI [1,2])
Recurrence
Item
Presence of recurrence
text
C2825055 (UMLS CUI [1,1])
Item
Period in which patients were followed
text
C4745109 (UMLS CUI [1,1])
F/U_PERIOD(MO)
Code List
Period in which patients were followed
CL Item
Not Applicable (N/A)
C1272460 (UMLS CUI [1,1])
Item
Disease status
text
C5188927 (UMLS CUI [1,1])
Status
Code List
Disease status
CL Item
Alive with disease (Alive w/dz)
CL Item
Dead - Myocardial Infarction (Dead-MI)
CL Item
Dead - Other reason(s) (Dead-Other)
CL Item
Lost to follow-up (Lost to f/u)
CL Item
No Evidence of Disease (vs. alive with disease vs. dead) (NED)
CL Item
Lost to follow-up (lost to f/u)
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