NOTCH3 missense mutations as predictor of long-term response to gemcitabine in a patient with epithelioid hemangioendothelioma.
Epithelioid hemangioendothelioma
Gemcitabine
NOTCH3
Soft-tissue sarcoma
Journal
Journal of cancer research and clinical oncology
ISSN: 1432-1335
Titre abrégé: J Cancer Res Clin Oncol
Pays: Germany
ID NLM: 7902060
Informations de publication
Date de publication:
Aug 2023
Aug 2023
Historique:
received:
05
01
2023
accepted:
24
01
2023
medline:
24
7
2023
pubmed:
8
2
2023
entrez:
7
2
2023
Statut:
ppublish
Résumé
Epithelioid hemangioendothelioma (EHE) as a very rare malignant vascular tumor belongs to the heterogenous group of soft-tissue sarcomas. Depending on the clinical course of the disease, interdisciplinary treatment concepts are required, including surgery, radiotherapy and systemic cancer therapy. However, due to its uncommonness, standard treatment options are lacking so far, especially in advanced disease with distant metastases. Here we report on an unusual case of a patient with metastasized EHE showing long-term response to second line treatment with gemcitabine over almost 2 decades. Cancer genome sequencing of the patient's tumor tissue detected a NOTCH3 missense mutation which could provide an explanation for these clinical findings. NOTCH3 is known to be a mediator of resistance towards gemcitabine-based cancer treatment, at least in pancreatic cancer and non-small cell lung cancer. The observation that this missense mutation of NOTCH3 is associated with an increased response to treatment with gemcitabine in EHE can be used prospectively to assess NOTCH3 as potential biomarker for predicting therapy response to gemcitabine.
Identifiants
pubmed: 36749424
doi: 10.1007/s00432-023-04598-1
pii: 10.1007/s00432-023-04598-1
pmc: PMC10356887
doi:
Substances chimiques
Gemcitabine
0
NOTCH3 protein, human
0
Receptor, Notch3
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
6753-6757Subventions
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Informations de copyright
© 2023. The Author(s).
Références
Elife. 2021 Apr 29;10:
pubmed: 33913810
Clin Respir J. 2020 Feb;14(2):173-178
pubmed: 31794151
Respirology. 2006 Nov;11(6):818-25
pubmed: 17052315
Medicine (Baltimore). 2017 Jun;96(26):e7345
pubmed: 28658152
Dev Biol. 2021 Jul;475:205-221
pubmed: 33428889
Eur Respir J. 1998 Jul;12(1):89-96
pubmed: 9701420
Arch Surg. 1999 Mar;134(3):252-7
pubmed: 10088563
Chest. 2011 Nov;140(5):1312-1318
pubmed: 21546438
Cancer Med. 2021 Apr;10(8):2645-2659
pubmed: 33713582
Cancer. 2021 Aug 15;127(16):2934-2942
pubmed: 33910263
Cell. 2006 Jun 30;125(7):1253-67
pubmed: 16814713
Genes Chromosomes Cancer. 2011 Aug;50(8):644-53
pubmed: 21584898
Br J Cancer. 2013 Apr 16;108(7):1488-94
pubmed: 23492684
Semin Oncol. 1995 Aug;22(4 Suppl 11):3-10
pubmed: 7481842
Mod Pathol. 2020 Apr;33(4):591-602
pubmed: 31537895
Curr Treat Options Oncol. 2018 Mar 15;19(4):19
pubmed: 29546487
Cells. 2019 Apr 23;8(4):
pubmed: 31018586
ESMO Open. 2021 Jun;6(3):100170
pubmed: 34090171
Diagn Pathol. 2014 Jul 01;9:131
pubmed: 24986479
Oncol Rep. 2018 Jul;40(1):155-164
pubmed: 29781034
Anticancer Drugs. 2009 Jan;20(1):73-4
pubmed: 19343003
Am J Surg Pathol. 2015 Jan;39(1):132-9
pubmed: 25353289
Front Mol Biosci. 2021 Jun 14;8:694141
pubmed: 34195229
Trends Cancer. 2019 May;5(5):283-296
pubmed: 31174841
Cancers (Basel). 2018 Nov 05;10(11):
pubmed: 30400599
Med Oncol. 2010 Sep;27(3):1017-22
pubmed: 19816816
Genes Chromosomes Cancer. 2013 Aug;52(8):775-84
pubmed: 23737213
Ann Thorac Surg. 2006 Dec;82(6):2010-3
pubmed: 17126100
Oncol Rev. 2014 Oct 13;8(2):259
pubmed: 25992243
J Exp Clin Cancer Res. 2019 Mar 8;38(1):119
pubmed: 30849994
PLoS One. 2021 Feb 25;16(2):e0246958
pubmed: 33630918
JCO Oncol Pract. 2021 Feb;17(2):118-120
pubmed: 32991259
Biochemistry. 2006 Dec 26;45(51):15168-78
pubmed: 17176038