Multiple and bilateral kidney tumors with clear cells of three different histotypes: A case report with clinicopathologic and molecular study

Raspollini, Maria Rosaria; Castiglione, Francesca; Martignoni, Guido; Lapini, A.; Liu, Cheng; Montironi, Rodolfo; López-Beltrán, Antonio

doi:10.1111/apm.12536

Cited by 10 publications

(7 citation statements)

References 22 publications

(26 reference statements)

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“…found that no KRAS mutation occurs in clear cell renal cell carcinoma ( n = 48), PRCC type 1 ( n = 1) and chromophobe renal cell carcinoma ( n = 1). KRAS mutations in renal cell carcinoma are only seen in sporadic reports 33 . In the current study, KRAS mutations accounted for only 0.7% (two of 279) of PRCCs and for 0.2% (one of 451) of clear cell renal cell carcinomas in the TCGA database.…”

Section: Discussioncontrasting

confidence: 46%

Frequent KRAS mutations in oncocytic papillary renal neoplasm with inverted nuclei

Tong

Zhu

et al. 2020

Histopathology

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Aims: Papillary renal neoplasm with reverse polarity (PRNRP) is a newly documented rare tumour type. Its molecular pathological features have thus far been very little studied. Methods and results: There were 13 PRNRP cases including 3 The Cancer Genome Atlas (TCGA) cases and our 10 cases in this study. The 3 TCGA cases were found by a combined analysis of GATA3 mRNA expression levels and digital slides from the TCGA papillary renal cell carcinoma project. KRAS codon 12 mutations were identified in the three PRNRPs from TCGA. Of our 10 PRNRP cases, the mutations were also discovered using Sanger sequencing in seven (77.8%) of nine cases with available DNA, where KRAS p.G12V (n = 3), p.G12D (n = 2), p.G12R (n = 1) and p.G12C (n = 1) alterations were found. PRNRP shared similar gene expression profiles with renal distal tubules via an interprofile correlation analysis. Gene set enrichment analysis revealed that genes involved in 'KEGG aldosterone regulated sodium reabsorption' or 'hallmark apical surface' were enriched in PRNRP. Moreover, polarised immunostaining patterns for L1CAM and EMA in the distal tubule were maintained in PRNRP. Conclusions: These results imply that the tumour potentially originates from the distal tubule, especially from the cortical collecting duct, and probably retains its cell polarity, except for nuclear inversion. We therefore propose that oncocytic papillary renal neoplasm with inverted nuclei (OPR-NIN) is a better name for this tumour type. OPRNIN is a kidney site-specific KRAS mutation neoplasm different from conventional papillary renal cell carcinoma.

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Section: Discussioncontrasting

confidence: 46%

Frequent KRAS mutations in oncocytic papillary renal neoplasm with inverted nuclei

Tong

Zhu

et al. 2020

Histopathology

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“…Varied papillary lesions, including intraductal papillary mucinous neoplasms of the pancreas and urothelial papillomas of the bladder, also have frequent KRAS mutations [10,11]. KRAS mutations in RCCs are very rare and have only been seen in sporadic reports [12].…”

Section: Discussionmentioning

confidence: 99%

Unilateral synchronous papillary renal neoplasm with reverse polarity and clear cell renal cell carcinoma: a case report with KRAS and PIK3CA mutations

Lee

Shin

Park

et al. 2020

Preprint

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BackgroundThe presence of histologically different neoplasms in the same organ is rare in pathologic practice. We report multiple synchronous masses of clear cell renal cell carcinoma and papillary renal neoplasm with reverse polarity in the same kidney. Herein, we present the first well-explained case with immunohistochemical findings with next-generation sequencing (NGS) analysis. Case presentationA 61-year-old man was incidentally found to have a left renal mass on imaging studies performed for workup of left back pain and urine color change for one week. A laparoscopic left radical nephrectomy was performed. Gross examination showed lobulated masses in the upper to mid pole measuring 5.6 × 4.0 × 3.3 cm and 1.1 × 1.0 × 1.0 cm in the lower pole. Microscopic findings revealed these to be two different separate masses of clear cell renal cell carcinoma and papillary renal neoplasm with reverse polarity. NGS analyses revealed KRAS gene mutation (c.35G>T/p.G12V in exon 2) in the papillary renal neoplasm with reverse polarity, with an additional PIK3CA gene mutation restricted to the clear cell renal cell carcinoma (c.1624G>A/p.E542K in exon 10).ConclusionsWe report here an extraordinarily rare case of a patient diagnosed with multiple synchronous renal tumors of papillary renal neoplasm with reverse polarity and clear cell renal cell carcinoma. We identified simultaneous KRAS and PIK3CA mutations in two different renal masses in the same kidney for the first time. New pathologic assessment with comparative molecular analysis of mutational profiles may be helpful for tumor studies.

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“…recommend extensive molecular profiling in cases with multiple lung cancers, as it might clarify the association between the lung lesions found . Several investigators have reported the utility of molecular biological analysis for diagnosis and treatment in multiple primary cancers, not only in lung cancer but also breast, gastric, hepatocellular, renal, and colorectal cancers . Thus, molecular biological analysis is necessary when multiple cancers of the same histotype are identified in the same tissue where there are multiple primary tumors.…”

Section: Discussionmentioning

confidence: 99%

Molecular biological analysis in a patient with multiple lung adenocarcinomas

et al. 2018

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The utility of molecular biological analysis in lung adenocarcinoma has been demonstrated. Herein we report a rare case presenting as multiple lung adenocarcinomas with four different EGFR gene mutations detected in three lung tumors. After opacification was detected by routine chest X‐ray, the patient, a 64‐year‐old woman, underwent chest computed tomography which revealed a right lung segment S4 ground‐glass nodule (GGN). Follow‐up computed tomography revealed a 42 mm GGN nodule with a 26 mm nodule (S6) and a 20 mm GGN (S10). Histopathology of resected specimens from the right middle and lower lobes revealed all three nodules were adenocarcinomas. Four EGFR mutations were detected; no three tumors had the same mutations. Molecular biological analysis is a promising tool for the diagnosis of primary tumors in patients with multiple lung carcinomas of the same histotype, enabling appropriate treatment.

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Multiple and bilateral kidney tumors with clear cells of three different histotypes: A case report with clinicopathologic and molecular study

Cited by 10 publications

References 22 publications

Frequent KRAS mutations in oncocytic papillary renal neoplasm with inverted nuclei

Frequent KRAS mutations in oncocytic papillary renal neoplasm with inverted nuclei

Unilateral synchronous papillary renal neoplasm with reverse polarity and clear cell renal cell carcinoma: a case report with KRAS and PIK3CA mutations

Molecular biological analysis in a patient with multiple lung adenocarcinomas

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