Ipsilateral synchronous papillary renal neoplasm with reverse polarity and urothelial carcinoma in a renal transplant recipient: a rare case report with molecular analysis and literature review.
Aged
Female
Humans
Carcinoma, Renal Cell
/ pathology
Carcinoma, Transitional Cell
/ diagnosis
Histone Demethylases
Kidney
/ pathology
Kidney Neoplasms
/ genetics
Kidney Transplantation
/ adverse effects
Neoplasms, Multiple Primary
/ genetics
Proto-Oncogene Proteins p21(ras)
Urinary Bladder Neoplasms
/ genetics
FGFR3 mutation
KDM6A mutation
KRAS mutation
Papillary renal neoplasm with reverse polarity
Renal transplantation
Urothelial carcinoma
Journal
Diagnostic pathology
ISSN: 1746-1596
Titre abrégé: Diagn Pathol
Pays: England
ID NLM: 101251558
Informations de publication
Date de publication:
03 Nov 2023
03 Nov 2023
Historique:
received:
31
01
2023
accepted:
20
10
2023
medline:
6
11
2023
pubmed:
4
11
2023
entrez:
4
11
2023
Statut:
epublish
Résumé
Renal transplant recipients (RTRs) have a 3- to 5-fold higher risk of developing malignant tumors than the general population, with new malignant tumors after transplantation considered to be the leading cause of death in RTRs. In pathological practice, it is rare for neoplasms with different histology to be located in the same organ. We report the first case of a synchronous papillary renal neoplasm with reverse polarity (PRNRP) and urothelial carcinoma (UC) in the ipsilateral kidney in an RTR. Molecular detection was conducted by next-generation sequencing. A 68-year-old female suffered from uremia 19 years ago and underwent renal transplantation (RT) after receiving dialysis for 6 months. Hematuria occurred one month ago and an enhanced CT showed that there were two abnormal density foci in the middle and lower parts of the autologous left kidney. A laparoscopic left nephrectomy and ureterectomy were performed. Gross examination revealed a mass (I) in the left renal parenchyma, 2*1.8*1.5 cm in size, that protruded from the renal capsule, and a cauliflower-like mass (II), 5*2.5*2 cm in size, adjacent to the mass (I). Microscopic findings revealed these lesions were PRNRP and UC, respectively. PCR analysis revealed a KRAS gene mutation (G12D in exon 2) in the PRNRP, while NGS analysis revealed FGFR3 (S249C in exon 7) and KDM6A (Q271Ter in exon 10 and A782Lfs in exon 17) mutations in the UC. We report here for the first time an extraordinarily rare case of synchronous renal tumors of a PRNRP and UC in the ipsilateral kidney of an RTR. We identified simultaneous KRAS, FGFR3, and KDM6A mutations in two different renal masses in the ipsilateral kidney. Pathologic assessment with comparative molecular analysis of mutational profiles facilitates tumor studies after RT and may be of great value in clinical management strategies.
Sections du résumé
BACKGROUND
BACKGROUND
Renal transplant recipients (RTRs) have a 3- to 5-fold higher risk of developing malignant tumors than the general population, with new malignant tumors after transplantation considered to be the leading cause of death in RTRs. In pathological practice, it is rare for neoplasms with different histology to be located in the same organ. We report the first case of a synchronous papillary renal neoplasm with reverse polarity (PRNRP) and urothelial carcinoma (UC) in the ipsilateral kidney in an RTR. Molecular detection was conducted by next-generation sequencing.
CASE PRESENTATION
METHODS
A 68-year-old female suffered from uremia 19 years ago and underwent renal transplantation (RT) after receiving dialysis for 6 months. Hematuria occurred one month ago and an enhanced CT showed that there were two abnormal density foci in the middle and lower parts of the autologous left kidney. A laparoscopic left nephrectomy and ureterectomy were performed. Gross examination revealed a mass (I) in the left renal parenchyma, 2*1.8*1.5 cm in size, that protruded from the renal capsule, and a cauliflower-like mass (II), 5*2.5*2 cm in size, adjacent to the mass (I). Microscopic findings revealed these lesions were PRNRP and UC, respectively. PCR analysis revealed a KRAS gene mutation (G12D in exon 2) in the PRNRP, while NGS analysis revealed FGFR3 (S249C in exon 7) and KDM6A (Q271Ter in exon 10 and A782Lfs in exon 17) mutations in the UC.
CONCLUSIONS
CONCLUSIONS
We report here for the first time an extraordinarily rare case of synchronous renal tumors of a PRNRP and UC in the ipsilateral kidney of an RTR. We identified simultaneous KRAS, FGFR3, and KDM6A mutations in two different renal masses in the ipsilateral kidney. Pathologic assessment with comparative molecular analysis of mutational profiles facilitates tumor studies after RT and may be of great value in clinical management strategies.
Identifiants
pubmed: 37924117
doi: 10.1186/s13000-023-01405-w
pii: 10.1186/s13000-023-01405-w
pmc: PMC10623754
doi:
Substances chimiques
Histone Demethylases
EC 1.14.11.-
Proto-Oncogene Proteins p21(ras)
EC 3.6.5.2
Types de publication
Case Reports
Review
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
120Informations de copyright
© 2023. The Author(s).
Références
Transplantation. 2014 Sep 15;98(5):552-6
pubmed: 24798310
BJU Int. 2005 Sep;96(4):489-92
pubmed: 16104897
Eur Urol. 2019 Mar;75(3):423-432
pubmed: 30213523
Front Oncol. 2022 Jan 06;11:828314
pubmed: 35071023
Am J Transplant. 2016 Dec;16(12):3490-3503
pubmed: 27163483
Eur Urol. 2020 Apr;77(4):420-433
pubmed: 31563503
Oncol Lett. 2020 Dec;20(6):349
pubmed: 33123260
FASEB J. 1995 Jul;9(10):919-25
pubmed: 7542215
Nature. 2014 Mar 20;507(7492):315-22
pubmed: 24476821
Mod Pathol. 2022 Sep;35(9):1279-1286
pubmed: 35152262
Ann Oncol. 2017 Nov 1;28(11):2895-2896
pubmed: 29045528
Hum Pathol. 2014 Feb;45(2):244-8
pubmed: 24315206
Am J Surg Pathol. 2019 Aug;43(8):1099-1111
pubmed: 31135486
Urol Oncol. 2016 Aug;34(8):338.e19-27
pubmed: 27106782
Eur J Surg Oncol. 2009 May;35(5):521-6
pubmed: 18640001
Hum Pathol. 2016 Feb;48:122-31
pubmed: 26615524
Am J Transplant. 2016 Apr;16(4):1139-47
pubmed: 26855194
Am J Pathol. 2001 Jun;158(6):1955-9
pubmed: 11395371
Transplant Proc. 2015 Sep;47(7):2116-20
pubmed: 26361657
Int J Cancer. 2009 Oct 15;125(8):1747-54
pubmed: 19444916
Int J Surg Pathol. 2020 Oct;28(7):728-734
pubmed: 32403965
Diagn Pathol. 2022 Aug 25;17(1):66
pubmed: 36002896
Eur Urol. 2022 Jan;81(1):95-103
pubmed: 34742583
Clin Cancer Res. 2019 Feb 1;25(3):967-976
pubmed: 30352907
Hum Pathol. 2017 Aug;66:152-158
pubmed: 28705707
Nat Rev Nephrol. 2010 Sep;6(9):511-9
pubmed: 20736984
Am J Transplant. 2009 Aug;9(8):1868-75
pubmed: 19563337
Am J Surg Pathol. 2022 Mar 1;46(3):336-343
pubmed: 34352808
Hum Pathol. 2021 Jun;112:48-58
pubmed: 33811832
Am J Surg Pathol. 2017 Dec;41(12):1618-1629
pubmed: 28984673
Mod Pathol. 2020 Jun;33(6):1157-1164
pubmed: 31534204
Transplant Proc. 2014 Jan-Feb;46(1):170-5
pubmed: 24507046
Mod Pathol. 2020 Apr;33(4):690-699
pubmed: 31953522
Clin Kidney J. 2018 Jun;11(3):315-329
pubmed: 29942495
J Am Acad Dermatol. 2020 Jun;82(6):1490-1500
pubmed: 31302190
Histopathology. 2021 Jun;78(7):1019-1031
pubmed: 33351968
Carcinogenesis. 2006 Apr;27(4):740-7
pubmed: 16338952
Nat Commun. 2019 Jul 5;10(1):2977
pubmed: 31278255
Crit Rev Oncol Hematol. 2013 May;86(2):97-103
pubmed: 23266085
Clin Cancer Res. 2019 Apr 15;25(8):2458-2470
pubmed: 30593515
J Clin Invest. 2020 Apr 1;130(4):1879-1895
pubmed: 31874105
Adv Cancer Res. 1993;60:1-41
pubmed: 8417497
Front Oncol. 2022 Jul 22;12:930296
pubmed: 35936734
Histopathology. 2020 Jun;76(7):1070-1083
pubmed: 31997427
JAMA. 2011 Nov 2;306(17):1891-901
pubmed: 22045767
Eur Urol Oncol. 2021 Apr;4(2):170-179
pubmed: 33386276
Pathology. 2017 Jan;49(1):10-18
pubmed: 27923499
R I Med J (2013). 2021 Feb 1;104(1):25-30
pubmed: 33517595
Urol Oncol. 2018 Jan;36(1):11.e7-11.e12
pubmed: 28993058
J Am Soc Nephrol. 2004 Jun;15(6):1582-8
pubmed: 15153569
Cancer Manag Res. 2020 May 19;12:3589-3595
pubmed: 32547196
Transplantation. 2009 May 15;87(9):1347-59
pubmed: 19424035
J Formos Med Assoc. 2014 Aug;113(8):521-6
pubmed: 23684217
Pathol Res Pract. 2021 Oct;226:153611
pubmed: 34547599
Sci Transl Med. 2017 Feb 22;9(378):
pubmed: 28228601
Nat Genet. 2011 Aug 07;43(9):875-8
pubmed: 21822268
Nature. 2012 Apr 18;486(7403):346-52
pubmed: 22522925