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
Abstract 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 w...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-11-01
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| Series: | Diagnostic Pathology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13000-023-01405-w |
| _version_ | 1797637086475452416 |
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| author | Daosheng Li Fenfen Liu Yiqian Chen Ping Li Yuyu Liu Yu Pang |
| author_facet | Daosheng Li Fenfen Liu Yiqian Chen Ping Li Yuyu Liu Yu Pang |
| author_sort | Daosheng Li |
| collection | DOAJ |
| description | Abstract 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 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 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. |
| first_indexed | 2024-03-11T12:44:20Z |
| format | Article |
| id | doaj.art-039f907c9ec349e2bba403fc8c0709e8 |
| institution | Directory Open Access Journal |
| issn | 1746-1596 |
| language | English |
| last_indexed | 2024-03-11T12:44:20Z |
| publishDate | 2023-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Diagnostic Pathology |
| spelling | doaj.art-039f907c9ec349e2bba403fc8c0709e82023-11-05T12:05:56ZengBMCDiagnostic Pathology1746-15962023-11-011811910.1186/s13000-023-01405-wIpsilateral synchronous papillary renal neoplasm with reverse polarity and urothelial carcinoma in a renal transplant recipient: a rare case report with molecular analysis and literature reviewDaosheng Li0Fenfen Liu1Yiqian Chen2Ping Li3Yuyu Liu4Yu Pang5Department of Pathology, the Affiliated Tai’an City Central Hospital of Qingdao UniversityDepartment of Urology, the Affiliated Tai’an City Central Hospital of Qingdao UniversityDepartment of Rehabilitation, the Affiliated Tai’an City Central Hospital of Qingdao UniversityDepartment of Pathology, the Affiliated Tai’an City Central Hospital of Qingdao UniversityDepartment of Hematology, the Affiliated Tai’an City Central Hospital of Qingdao UniversityDepartment of Pathology, the Affiliated Tai’an City Central Hospital of Qingdao UniversityAbstract 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 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 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.https://doi.org/10.1186/s13000-023-01405-wPapillary renal neoplasm with reverse polarityUrothelial carcinomaRenal transplantationKRAS mutationFGFR3 mutationKDM6A mutation |
| spellingShingle | Daosheng Li Fenfen Liu Yiqian Chen Ping Li Yuyu Liu Yu Pang 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 Diagnostic Pathology Papillary renal neoplasm with reverse polarity Urothelial carcinoma Renal transplantation KRAS mutation FGFR3 mutation KDM6A mutation |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | Papillary renal neoplasm with reverse polarity Urothelial carcinoma Renal transplantation KRAS mutation FGFR3 mutation KDM6A mutation |
| url | https://doi.org/10.1186/s13000-023-01405-w |
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