scholarly journals Papillary Renal Cell Carcinoma in Lynch/Muir-Torre Syndrome with Germline Pathogenic Variant in MSH6 and Molecular Analysis

2021 ◽  
Vol 8 (2) ◽  
pp. 8-19
Author(s):  
Yu Yang ◽  
Shweta Dhar ◽  
Jennifer Taylor ◽  
Bhuvaneswari Krishnan
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Mismatch Repair ◽  
Renal Cell ◽  
Papillary Renal Cell Carcinoma ◽  
Pathogenic Variant ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Papillary Rcc

Lynch syndrome (LS) is an autosomal dominant inherited disorder due to pathogenic variations in the mismatch repair genes, which predisposes to malignancies, most commonly colon and endometrial carcinoma. Muir-Torre syndrome is a subset of LS with cutaneous sebaceous adenoma and keratoacanthoma in addition to the malignancies. Renal cell carcinoma (RCC) in patients with LS is extremely rare. Only 26 cases have been reported and among them, only two cases of papillary RCC. We report a case of synchronous papillary RCC and colonic adenocarcinoma in an 85-year-old male with Lynch/Muir-Torre syndrome. The LS was diagnosed when he presented with multiple sebaceous adenomas and genetic testing showed a pathogenic variant in MSH6 mismatch repair gene. A colonoscopy at that time showed multiple tubular adenomas with high-grade dysplasia. He was lost to follow-up and presented with gastrointestinal bleeding after 20 years. A right colonic mass, and a solid mass in the lower pole of the right kidney, was detected by imaging. Right Colectomy showed a T3N0 mucin-producing adenocarcinoma. Right nephrectomy showed a T3a papillary RCC which was microsatellite stable with MSH6, and KRAS mutation. The 36-month follow-up exams showed additional sebaceous neoplasms, and an absence of metastatic carcinoma. Analysis of the reported cases of RCC in LS show clear cell RCC as the most common type. These tumors showed MLH1 mutation most commonly, unlike the urothelial malignancies in LS which involve MSH2. Among the 4 cases of RCC with MSH6 mutation, three were in females, indicating some gender differences.

scholarly journals Mismatch Repair Gene Mutations in Renal Cell Carcinoma

2002 ◽  
Vol 1 (5) ◽  
pp. 530-536 ◽  
Author(s):  
Fredrick S. Leach ◽  
Moon S. Koh ◽  
Kirti Sharma ◽  
Glenn McWilliams ◽  
LaTonia Talifero-Smith ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Mismatch Repair ◽  
Renal Cell ◽  
Gene Mutations ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Mismatch Repair Gene Mutations

scholarly journals Papillary renal cell carcinoma within a renal oncocytoma: Case report of very rare coexistence

2014 ◽  
Vol 8 (11-12) ◽  
pp. 928 ◽  
Author(s):  
Cevahir Özer ◽  
Mehmet Resit Gören ◽  
Tulga Egilmez ◽  
Nebil Bal
Keyword(s):  
Renal Cell Carcinoma ◽  
Case Report ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Radical Nephrectomy ◽  
Papillary Renal Cell Carcinoma ◽  
Renal Oncocytoma ◽  
Renal Neoplasms ◽  
Renal Oncocytomas ◽  
Papillary Rcc

Renal oncocytomas accounts for 3% to 9% of primary renal neoplasms. The coexistence of renal cell carcinoma (RCC) within the oncocytoma is extremely rare. We report the case of an asymptomatic 74-year-old man with papillary RCC within oncocytoma managed with left radical nephrectomy.

scholarly journals Clear Cell Papillary Renal Cell Carcinoma

2019 ◽  
Vol 143 (9) ◽  
pp. 1154-1158 ◽  
Author(s):  
Jianping Zhao ◽  
Eduardo Eyzaguirre
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Clear Cell ◽  
Papillary Renal Cell Carcinoma ◽  
Genetic Profiling ◽  
Papillary Rcc ◽  
High Index Of Suspicion ◽  
Cell Changes ◽  
Histopathologic Features

Clear cell papillary renal cell carcinoma (ccpRCC) is a recently recognized entity and represents the fourth most common variant of renal cell carcinoma (RCC). It has unique morphologic and immunohistochemical features and demonstrates an indolent clinical behavior. Microscopically, it may mimic other RCCs with clear cell features, such as clear cell RCC, translocation RCC, and papillary RCC with clear cell changes. A high index of suspicion is required to keep ccpRCC in the differential diagnosis of RCCs with features of clear cell and/or papillary architecture. In equivocal cases, immunohistochemistry is generally sufficient to substantiate the diagnosis of ccpRCC. In this review, we discuss the clinical, gross, and histopathologic features, immunohistochemical and genetic profiling, and prognosis of ccpRCC.

Single-institutional analysis of patients with clear-cell papillary renal cell carcinoma.

2016 ◽  
Vol 34 (2_suppl) ◽  
pp. 512-512
Author(s):  
Jozefina Casuscelli ◽  
Andrew G. Winer ◽  
Eduard Reznik ◽  
Jianing Xu ◽  
Brandon Manley ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Clear Cell ◽  
Papillary Renal Cell Carcinoma ◽  
Primary Objective ◽  
Driver Mutations ◽  
Histologic Subtype ◽  
Recurrent Mutations

512 Background: Recently clear cell papillary renal cell carcinoma (cpRCC) has been recognized as new histologic subtype with immunohistochemical profiles that differentiate it from clear cell (ccRCC) and papillary (pRCC) RCC. Several previous studies highlighted the indolent behaviour of this entity in the reported cases. Our primary objective is to further elucidate the genomic and clinical characteristics of cpRCC. Methods: 44 patients with cpRCC were selected from the MSKCC database with surgery performed between 2007 and 2014. Only tumors with appropriate histological configuration and immunohistochemically confirmed CAIX and CK7 positivity and CD10 negativity were included. Whole exome sequencing (WES) was performed on 5 cpRCC tumor samples and one sample was analyzed by next-generation sequencing (MSK-IMPACT). A further comparison was made to 825 ccRCC and 219 pRCC tumors with initial pT1 diagnosis from our institutional database. Differences in the variables across groups were analyzed with the Chi-Square and the Kruskal–Wallis tests. To visualize and test the survival distribution differences, we used Kaplan–Meier plots and Log-rank tests. Results: Sequencing did not reveal VHL mutations or other known driver mutations commonly seen in ccRCC or pRCC and no recurrent mutations were identified. The median follow up period for cpRCC was 27 months, for ccRCC 59 months and for pRCC 63 months. cpRCC frequently co-occured with ccRCC or other RCC subtypes (17/44 cases). Female patients developed cpRCC significantly more frequently than ccRCC or pRCC (47.7% P<0.001) and Kruskal-Wallis test revealed differences in tumor size between the 3 groups (cpRCC median size 2.5 cm, P<0.001). Recurrence, metastatic development and death from kidney cancer was observed in ccRCC (3.7%, 2.3% and 0.8%) and in pRCC (4.5%, 1.8% and 2%), but not in the cpRCC cohort. Conclusions: cpRCC is genomically distinct from ccRCC and pRCC and lacks driver mutations commonly associated with aggressive disease. The tumors tend to present smaller than other RCC subtypes, commonly co-occur with other RCCs and disproportionately affect women. Extended follow-up of larger cohorts is necessary to confirm the true indolent nature of cpRCC.

Single institution experience on papillary renal cell carcinoma PD-1/PD-L1 expression, pathological analysis, and outcomes after nephrectomy.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e16048-e16048
Author(s):  
Bradley Curtis Carthon ◽  
Manal Tabba ◽  
Wayne Harris ◽  
Omer Kucuk ◽  
Viraj A. Master ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Systemic Therapy ◽  
Renal Cell ◽  
Clear Cell ◽  
Papillary Renal Cell Carcinoma ◽  
Pathological Examination ◽  
Primary Tumors ◽  
Systemic Treatments ◽  
Papillary Rcc

e16048 Background: The PD-1/PD-L1 pathway plays an important role in tumor growth and tolerance among renal cancer cells. Renal cell carcinoma (RCC) consists of several different histological subtypes, including clear cell and non-clear cell varieties. Papillary RCC is the most common non-clear cell type and accounts for almost 13% of RCC cases. Our center has a large volume of papillary RCC patients treated by nephrectomy or with systemic therapy. This retrospective study examines pathological criteria, outcomes, and PD-1/PD-L1 expression in a defined cohort. Methods: Institutional review board (IRB) approval was obtained to access and retrospectively review clinical and pathological data of patients that presented with papillary RCC and had a partial or radial nephrectomy during a 1 year duration at our institution. We collected data on survival, systemic treatments, and pathological staging. Tumor samples from the patients were also stained and analyzed for PD-1 and PD-L1 expression. Results: 31 patients were identified with papillary histology after nephrectomy. 45% (14/31) of the patients underwent a radial nephrectomy while 55% (17/31) underwent a partial nephrectomy. Of these 31 patients, 23 had tumor slides available for staining and review. 65% (15/23) of the tumor samples were type 1 papillary RCC, and 35% (8/23) were type 2. PD-L1 was expressed in 13% (3/23) of the cases and PD-1 was expressed in 52% (12/23) of the cases. 71% of the patients were pT1 and 84% of the patients were alive at 5 years. Only 1/31 patients required use of systemic therapy. 74% (17/23) of patients were African American. Conclusions: Patients undergoing nephrectomy for papillary RCC at our institution commonly had small primary tumors with excellent survival. 46% of the tumors expressed PD-1, whereas only 12% expressed PD-L1. Trials that study the inhibition of the PD-1/ PD-L1 pathway may be helpful in strategies for treating both localized and metastatic papillary RCC. Further genomic and pathological examination of additional samples is currently underway.

Papillary renal cell cystoadenocarcinoma

1992 ◽  
Vol 59 (1_suppl) ◽  
pp. 211-213
Author(s):  
B. Monica ◽  
M. Zivieri ◽  
P. Cortellini ◽  
M. Simonazzi ◽  
F. Poletti
Keyword(s):  
Renal Cell Carcinoma ◽  
Ct Scan ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Papillary Renal Cell Carcinoma ◽  
Needle Aspiration ◽  
Stage I ◽  
Papillary Rcc

Papillary renal cell carcinoma (RCC) is known by the tendency to avascularity shown by angiography. More uncommon is the cystic variant of papillary RCC called cystoadenocarcinoma. The majority of papillary tumors are in stage I. The survival for papillary RCC is significantly higher than that for non-papillary RCC. CT-scan MNR, although non diagnostic, enhance the suspicion of a heterologous process in so called “complicated cysts”. US-guided percutaneous needle aspiration may be helpful to diagnose these tumours. We report 2 cases of cystodenocarcinoma and our considerations.

Type 1 papillary renal cell carcinoma: differentiation from Type 2 papillary RCC on multiphasic MDCT

2017 ◽  
Vol 42 (7) ◽  
pp. 1911-1918 ◽  
Author(s):  
Jonathan R. Young ◽  
Heidi Coy ◽  
Michael Douek ◽  
Pechin Lo ◽  
James Sayre ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Papillary Renal Cell Carcinoma ◽  
Papillary Rcc

Lymphopenia as an independent predictor of worse survival in papillary renal cell carcinoma.

2014 ◽  
Vol 32 (4_suppl) ◽  
pp. 397-397
Author(s):  
Reza Mehrazin ◽  
Robert G. Uzzo ◽  
Alexander Kutikov ◽  
Jeffrey J. Tomaszewski ◽  
Serge Ginzburg ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Overall Survival ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Lymphocyte Count ◽  
Papillary Renal Cell Carcinoma ◽  
Absolute Lymphocyte Count ◽  
Tnm Stage ◽  
Comorbidity Index ◽  
Papillary Rcc

397 Background: Lymphopenia signifies inflammatory response and is an index of poor systemic immunity which can be associated with poor survival outcomes. The aim of this study was to evaluate the prognostic relevance of preoperative absolute lymphocyte count (ALC) in patients with papillary renal cell carcinoma (RCC). Methods: We retrospectively analyzed our institutional, prospectively maintained, renal cancer database and identified patients with pathologic diagnosis of papillary RCC after partial or radical nephrectomy. Patients with preoperative ALC value within 3 months prior to surgery were eligible for the study. ALC of 1,300 cells/µl was used as the cutoff value (our lowest laboratory reference value). We evaluated the correlation between ALC and age, gender, Charlson comorbidity index (CCI), pathologic T stage, nuclear grade, and overall TNM stage. Differences in overall survival (OS) by ALC status were assessed using the log−rank test. Cox proportional hazards modeling was used for multivariable analyses. Results: We identified 314 out of 2,732 patients with a pathologic diagnosis of papillary RCC after partial or radical nephrectomy from 1997 to 2013. Those undergoing multiple surgical procedures (multifocal or bilateral disease) or missing preoperative ALC were excluded from the study. A total 205 patients met inclusion criteria with a median follow up of 37.3 months. As a continuous variable, low absolute lymphocyte count was associated with higher pT stage (p=0.038), TNM stage (p=0.029) and older age (p=0.022). Lymphopenia below 1,300 cells/µl was also associated with pT stage (p=0.008) and TNM stage (p=0.018). On multivariable analysis, independent of stage, older age,and CCI, lymphopenia was associated with inferior overall survival (HR 2.1 [CI 1.1−4.03], p=0.037). Conclusions: In our series of patients with papillary renal cell carcinoma, lymphopenia was associated with lower overall survival independent of stage, age,and charlson comorbidity index. ALC significantly increases the accuracy of already established prognostic factors and can be helpful for patient counseling and design of clinical trials.

scholarly journals Robot-assisted retroperitoneal lymphadenectomy in patient with type I papillary renal cancer recurrence after 5 years of follow-up

2020 ◽  
Vol 2020 (10) ◽  
Author(s):  
Yazan Al Salhi ◽  
Andrea Fuschi ◽  
Gennaro Velotti ◽  
Lorenzo Capone ◽  
Sara Aversa ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cancer ◽  
Renal Cell ◽  
Histopathological Examination ◽  
Papillary Renal Cell Carcinoma ◽  
Type I ◽  
Robot Assisted ◽  
Retroperitoneal Lymphadenectomy

Abstract Papillary renal cell carcinoma (PRCC) is a rare cancer and is the second most frequent histologic type among all renal cell carcinoma, accounting for up to 15%. A 72-year-old man underwent a right radical nephrectomy 7 years ago with final histopathology diagnosis of type 1 PRCC with negative surgical margins. Five years after surgery, computed tomography scan imaging showed the presence of multiple masses suspicious for node recurrences disease localized in the renal lodge, in the inter-aorto-caval space, at the iliac vessels bifurcation and right common iliac vessels. Patient underwent a robotic retroperitoneal lymphadenectomy. The histopathological examination confirmed the recurrence of type I papillary renal cancer in all the specimens. No further recurrences have been observed at 24-month follow-up after surgery. This report is the first describing a robot-assisted minimally invasive surgical excision for type I papillary renal cancer nodal and renal fossa recurrences.

Sign in / Sign up

Export Citation Format

Share Document