Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases.
adrenocortical carcinoma
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
04 2019
04 2019
Historique:
received:
30
11
2018
accepted:
11
02
2019
entrez:
3
4
2019
pubmed:
3
4
2019
medline:
9
4
2020
Statut:
epublish
Résumé
Adrenocortical carcinoma is a rare malignancy with a poor prognosis and few treatment options. Molecular characterization of this cancer remains limited. We present a case of an adrenocortical carcinoma (ACC) in a 37-yr-old female, with dual lung metastases identified 1 yr following commencement of adjuvant mitotane therapy. As standard therapeutic regimens are often unsuccessful in ACC, we undertook a comprehensive genomic study into this case to identify treatment options and monitor disease progress. We performed targeted and whole-genome sequencing of germline, primary tumor, and both metastatic tumors from this patient and monitored recurrence over 2 years using liquid biopsy for ctDNA and steroid hormone measurements. Sequencing revealed the primary and metastatic tumors were hyperhaploid, with extensive loss of heterozygosity but few structural rearrangements. Loss-of-function mutations were identified in
Identifiants
pubmed: 30936196
pii: mcs.a003764
doi: 10.1101/mcs.a003764
pmc: PMC6549567
pii:
doi:
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2019 McCabe et al.; Published by Cold Spring Harbor Laboratory Press.
Références
J Mol Diagn. 2017 Jan;19(1):24-34
pubmed: 27863260
Bioinformatics. 2015 Nov 15;31(22):3673-5
pubmed: 26163694
Int J Cancer. 2018 Aug 15;143(4):944-957
pubmed: 29516499
Sci Transl Med. 2014 Feb 19;6(224):224ra24
pubmed: 24553385
Eur J Endocrinol. 2010 Feb;162(2):349-56
pubmed: 19903796
Sci Rep. 2017 Oct 18;7(1):13488
pubmed: 29044214
Kidney Cancer. 2017 Jul 26;1(1):65-70
pubmed: 30334006
N Engl J Med. 2012 Jun 7;366(23):2189-97
pubmed: 22551107
Lancet. 2010 Aug 28;376(9742):687-97
pubmed: 20728210
Source Code Biol Med. 2016 Dec 15;11:13
pubmed: 27999612
Cell Res. 2009 Jul;19(7):802-15
pubmed: 19532122
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Nat Biotechnol. 2013 Nov;31(11):1023-31
pubmed: 24142049
Curr Oncol. 2017 Aug;24(4):e316-e322
pubmed: 28874901
Lancet Oncol. 2015 Apr;16(4):426-35
pubmed: 25795408
Cell Metab. 2016 Jan 12;23(1):27-47
pubmed: 26771115
J Am Coll Surg. 2018 Jun;226(6):988-995
pubmed: 29428231
BMC Urol. 2015 May 27;15:43
pubmed: 26013141
N Engl J Med. 2013 Mar 28;368(13):1199-209
pubmed: 23484797
Oncotarget. 2017 Jan 31;8(5):7452-7463
pubmed: 27980218
Int J Cancer. 2018 Jul 1;143(1):199-211
pubmed: 29411361
Cancer Res. 2015 Jun 1;75(11):2139-45
pubmed: 25977340
Mol Cancer. 2018 Jan 17;17(1):8
pubmed: 29343260
Front Cell Dev Biol. 2015 Jul 03;3:45
pubmed: 26191527
Ann Oncol. 2012 Oct;23 Suppl 7:vii131-8
pubmed: 22997446
Cell. 2017 Feb 9;168(4):644-656
pubmed: 28187286
Endocr Relat Cancer. 2018 Mar;25(3):L13-L17
pubmed: 29212777
Eur J Endocrinol. 2017 Nov;177(5):439-444
pubmed: 28819017
Cell Commun Signal. 2018 Jun 8;16(1):27
pubmed: 29884238
Protein Cell. 2018 Feb;9(2):216-237
pubmed: 28748451
J Oncol. 2018 Dec 4;2018:6214838
pubmed: 30631356
PLoS One. 2012;7(6):e38287
pubmed: 22675538
J Endocrinol Invest. 2018 May;41(5):499-507
pubmed: 29080966
J Clin Endocrinol Metab. 2017 Oct 1;102(10):3611-3615
pubmed: 28973495
PLoS Comput Biol. 2016 Apr 21;12(4):e1004873
pubmed: 27100738
Bioinformatics. 2016 Apr 15;32(8):1220-2
pubmed: 26647377
Biochim Biophys Acta Rev Cancer. 2017 Aug;1868(1):7-15
pubmed: 28110019
Medicine (Baltimore). 2016 Sep;95(36):e4756
pubmed: 27603373
Oncotarget. 2017 Oct 2;8(51):88257-88258
pubmed: 29179432
Int J Cancer. 2002 Sep 20;101(3):248-52
pubmed: 12209975
Histopathology. 2007 Aug;51(2):239-45
pubmed: 17593212
J Surg Oncol. 2017 Sep;116(3):427-433
pubmed: 28672049
Cell Res. 2018 Mar;28(3):265-280
pubmed: 29219147
N Engl J Med. 2018 May 10;378(19):1789-1801
pubmed: 29658430
Molecules. 2017 Aug 16;22(8):
pubmed: 28813011
Ann Surg Oncol. 2018 Mar;25(3):792-800
pubmed: 29214451
J Clin Endocrinol Metab. 2012 Oct;97(10):3495-503
pubmed: 22837187
J Gastrointest Oncol. 2017 Oct;8(5):858-866
pubmed: 29184690
Cancer Res. 2013 May 15;73(10):3029-40
pubmed: 23475934
BMB Rep. 2011 May;44(5):317-22
pubmed: 21615986
Eur J Endocrinol. 2014 Feb 04;170(3):385-91
pubmed: 24347427
Mol Cell Biol. 2006 Mar;26(6):2297-308
pubmed: 16508005
Oncologist. 2017 Sep;22(9):1102-1106
pubmed: 28559412
Bioinformatics. 2019 Jan 1;35(1):122-125
pubmed: 30561546
Mol Cell Endocrinol. 2018 Oct 15;474:57-64
pubmed: 29474877
Nat Commun. 2018 Mar 1;9(1):896
pubmed: 29497091
Oncol Lett. 2012 Dec;4(6):1151-1157
pubmed: 23226794
Endocr Pathol. 2017 Jun;28(2):95-102
pubmed: 28271381
Eur J Endocrinol. 2008 Jun;158(6):911-9
pubmed: 18505909
Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33
pubmed: 25431634
J Clin Endocrinol Metab. 2013 Jan;98(1):E119-25
pubmed: 23175693
Oncotarget. 2016 Nov 29;7(48):79292-79304
pubmed: 27764813
J Clin Endocrinol Metab. 2013 Dec;98(12):4551-64
pubmed: 24081734
Nat Commun. 2017 Jun 06;8:15180
pubmed: 28585546
Hum Mutat. 2008 Feb;29(2):332
pubmed: 18205192
Nucleic Acids Res. 2013 Sep;41(16):7615-24
pubmed: 23793816
Cancer Med. 2018 Apr;7(4):1440-1449
pubmed: 29532999
Bioinformatics. 2012 Jul 15;28(14):1811-7
pubmed: 22581179
Mol Cell Endocrinol. 2012 Mar 31;351(1):66-70
pubmed: 22209747
Rev Hosp Clin Fac Med Sao Paulo. 2002 Nov-Dec;57(6):251-6
pubmed: 12612756
Nucleic Acids Res. 2016 Jun 20;44(11):e108
pubmed: 27060149
J Cancer. 2017 Sep 20;8(17):3430-3440
pubmed: 29151926
PLoS Comput Biol. 2013;9(7):e1003153
pubmed: 23874191