ID

45424

Description

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

Keywords

Versions (1)
  1. 11/25/22 11/25/22 - Simon Heim
Copyright Holder

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

Uploaded on

November 25, 2022

DOI

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License

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

English

Sample - Attribute Information

5 forms  
pht003529
Description

pht003529

Alias
UMLS CUI [1,1]
C3846158
De-identified Sample ID
Description

SAMPID

Data type

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Stage of the disease
Description

Stage

Data type

string

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

Site

Data type

string

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

Perineural_invasion

Data type

string

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

Angiolymphatic_invasion

Data type

string

Alias
UMLS CUI [1,1]
C1708790
Post-surgery treatment
Description

Adjuvant_treatment

Data type

string

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

Pathology

Data type

string

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

MYB-NFIBstatus

Data type

string

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

Recurrence

Data type

string

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

F/U_PERIOD(MO)

Data type

text

Measurement units
  • Months
Alias
UMLS CUI [1,1]
C4745109
Disease status
Description

Status

Data type

string

Alias
UMLS CUI [1,1]
C5188927
Type of analysis performed (e.g.CNV_array, sequencing)
Description

Analysis_type

Data type

string

Alias
UMLS CUI [1,1]
C0936012
UMLS CUI [1,2]
C0332307
Analyte type used
Description

Analyte_type

Data type

text

Alias
UMLS CUI [1,1]
C4744818
Tumor tissue yes/no
Description

Is_tumor

Data type

text

Alias
UMLS CUI [1,1]
C0475358
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Similar models

Sample - Attribute Information

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht003529
C3846158 (UMLS CUI [1,1])
SAMPID
Item
De-identified Sample ID
string
C4684638 (UMLS CUI [1,1])
C1299222 (UMLS CUI [1,2])
Stage
Item
Stage of the disease
string
C0699749 (UMLS CUI [1,1])
Site
Item
Site of the sample
string
C0449705 (UMLS CUI [1,1])
Perineural_invasion
Item
Presence of perineural invasion
string
C1300724 (UMLS CUI [1,1])
Angiolymphatic_invasion
Item
Presence of Angiolymphatic invasion
string
C1708790 (UMLS CUI [1,1])
Adjuvant_treatment
Item
Post-surgery treatment
string
C0543467 (UMLS CUI [1,1])
C0231290 (UMLS CUI [1,2])
C0087111 (UMLS CUI [1,3])
Pathology
Item
Subtype of ACC on pathology
string
C0010606 (UMLS CUI [1,1])
C0030664 (UMLS CUI [1,2])
MYB-NFIBstatus
Item
MYB-NFIB status on FISH
string
C4330610 (UMLS CUI [1,1])
C0162789 (UMLS CUI [1,2])
Recurrence
Item
Presence of recurrence
string
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])
Status
Item
Disease status
string
C5188927 (UMLS CUI [1,1])
Analysis_type
Item
Type of analysis performed (e.g.CNV_array, sequencing)
string
C0936012 (UMLS CUI [1,1])
C0332307 (UMLS CUI [1,2])
Analyte_type
Item
Analyte type used
text
C4744818 (UMLS CUI [1,1])
Is_tumor
Item
Tumor tissue yes/no
text
C0475358 (UMLS CUI [1,1])
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