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Clear Cell Papillary Renal Cell Carcinoma: Molecular Profile and Virtual Karyotype Human Pathology (2019) 91,52–60 www.elsevier.com/locate/humpath Original contribution Clear cell papillary renal cell carcinoma: molecular profile and virtual karyotype☆,☆☆ Diana M. Morlote, MD a,⁎,1, Shuko Harada, MD a,1, Denise Batista, PhD b, Jennifer Gordetsky, MD c,1, Soroush Rais-Bahrami, MD d,e,1 aDepartment of Pathology, University of Alabama at Birmingham, Birmingham, AL 35233, USA bJohns Hopkins University School of Medicine, Baltimore, MD 21205, USA cDepartment of Pathology, Vanderbilt University Medical Center, Nashville, TN 37232, USA dDepartment of Urology, University of Alabama at Birmingham, Birmingham, AL 35233, USA eDepartment of Radiology, University of Alabama at Birmingham, Birmingham, AL 35233, USA Received 15 March 2019; revised 26 May 2019; accepted 31 May 2019 Keywords: Summary Clear cell papillary renal cell carcinoma (CCP-RCC) is a recently recognized tumor that shares Clear cell papillary renal morphologic features of both clear cell renal cell carcinoma and papillary renal cell carcinoma but be- cell carcinoma; haves in a more indolent fashion. To date, there is little molecular information available on CCP-RCC. Genetic profile; DNA was extracted from formalin-fixed, paraffin-embedded tissue blocks of 22 cases of CCP-RCC at Molecular study; the University of Alabama at Birmingham. Targeted next-generation sequencing and single-nucleotide VHL mutations; polymorphism array were performed on all cases. Next-generation sequencing analysis found 30 somatic Virtual karyotyping; variants across 63.3% of cases. Seventeen variants (56.7%) were predicted to be deleterious or possibly/ Low-grade renal cell probably damaging. Single-nucleotide polymorphism array analysis found copy number abnormalities carcinoma and/or loss of heterozygosity in 22.7% of cases. We analyzed the genetic characteristics of a group of CCP-RCCs cases and found them to be genetically different from one another. Some cases were genetically similar to clear cell renal cell carcinoma. © 2019 Elsevier Inc. All rights reserved. ☆ Competing interests: The authors have no conflicts of interest to 1. Introduction declare. ☆☆ Funding/Support: This study was funded in part by the University of Alabama at Birmingham, Department of Urology Junior Faculty Research Renal cell carcinomas represent a diverse and ever- Award granted to S. R.-B. The rest of the funding was provided by the expanding group of malignant tumors of the renal cortex with Adams Grant supported by Robert B. and Jean G. Adams Foundation distinct morphologic, genetic, and clinical features. Clear cell awarded to D. M. M. papillary renal cell carcinoma (CCP-RCC) is a more recently ⁎ Corresponding author at: Department of Pathology, University of Alabama at Birmingham, 1802 6th Avenue South, Birmingham, AL recognized tumor that, as its name suggests, shares morpho- 35249. logic features of both clear cell renal cell carcinoma (CC- E-mail address: [email protected] (D. M. Morlote). RCC) and papillary renal cell carcinoma (P-RCC). However, 1 Authors with equal contribution. despite its morphologic overlap with other entities, this tumor https://doi.org/10.1016/j.humpath.2019.05.011 0046-8177/© 2019 Elsevier Inc. All rights reserved. CCP-RCC: Molecular Profile and Karyotype 53 Fig. 1 Case 9: representative case of CCP-RCC. A, Encapsulated neoplasm with delicate papillary projections (original magnification ×40). B and C, Low nuclear grade and nuclei that line up with luminal (reverse) polarity (A-C: hematoxylin and eosin, ×200). IHC stains revealed that CK7 is strong and diffuse. CAIX is strong with fading of the stain on the luminal membrane (both ×200). has been recognized to have distinct features of its own. CC- of small renal masses (b4 cm) because of the increased uti- RCCs are well circumscribed with a well-defined fibrous lization of imaging techniques [6]. As such, the concept of capsule and are composed of a mixture of cystic and papillary active surveillance, which has been used in other malignan- components. The papillae can have densely packed second- cies, is now considered an oncologically safe option in se- ary branching, giving the appearance of a solid component. lect patients with small renal masses with indolent The cells covering the papillae are small to medium sized behavior [7]. Given the different treatment options, being and cuboidal with small, uniform nuclei that face the luminal able to classify distinct renal tumors and their associated surface (reverse polarity) [1]. On immunohistochemistry, tu- clinical risk appropriately becomes increasingly important. mor cells show strong, diffuse positivity for cytokeratin (CK) The genetics of CCP-RCC have been previously studied 7 and a cup-like staining pattern for carbonic anhydrase (CA) in small numbers of cases using conventional karyotype IX, which has been thought to be unique to this entity [2-4]. [8], comparative genomic hybridization [9,10], short tandem From a clinical standpoint, CCP-RCC has been seen to arise repeats [11], fluorescence in situ hybridization [12,13],and spontaneously as well as in patients with end-stage renal dis- Sanger sequencing [14]. The presence of VHL mutations in ease (ESRD) and may favor patients of African descent [5]. sporadic cases of CCP-RCC is a matter of debate. A 2015 In addition, CCP-RCC is thoughttobehaveinanindolent study using Sanger sequencing identified VHL mutations in manner. 3 of 27 cases of CCP-RCC (11%) [14]. Three unpublished Currently, the mainstay treatments for renal cell carci- abstracts have also reported VHL abnormalities in these tu- noma include radical nephrectomy or nephron-sparing mors [15-17]. Other authors argue that CCP-RCC, when surgery, such as partial nephrectomy or thermal ablative strictly defined, does not harbor abnormalities in the VHL techniques. However, the last 2 decades has seen an in- gene [3,18,19]. In addition, CCP-RCC–like tumors have creased aging population in the United States as well as been described in the setting of von Hippel–Lindau (VHL) an increase in overall patient co-morbidities. At the same syndrome. The recent description of these tumors along with time, there has been an increase in the incidental detection their relative low prevalence has resulted in lack of a 54 D. M. Morlote et al. Fig. 2 VHL mutation–positive cases. Cases 3, 14, and 16, which harbored VHL mutations by NGS, show papillary and microcystic areas with low-grade nuclei that line up with luminal (reverse) polarity, making them morphologically and immunohistochemically indistinguishable from VHL mutation–negative cases. CK7 is strong and diffuse. CAIX is strong with fading of the stain on the luminal membrane (all ×400). comprehensive molecular study of CCP-RCC. We investi- 2. Materials and methods gated the genetic profile of CCP-RCCs diagnosed and treated at our institution using next-generation sequencing (NGS) 2.1. Sample cohort and single-nucleotide polymorphism (SNP) array analysis to better understand this newly recognized renal tumor and After approval was obtained from the institutional review help distinguish it as a genetically unique entity separate board at the University of Alabama at Birmingham (UAB), from other renal cell carcinomas. the archive of the Department of Pathology was searched CCP-RCC: Molecular Profile and Karyotype 55 Table. 1 Clinicopathologic features in 22 cases of CCP-RCC Case Sex Age Race Renal comorbidities Other clinical histories Tumor Tumor size ISUP Focality Tumor (y) side (cm) grade stage 1 M 65 AA ESRD on dialysis Obesity, HTN, HLD L 1.3 2 UF 1a ESRD, APKD, s/p renal 2 M 47 AA HTN L 4.5 2 MF 1a transplant 3 M 52 AA ESRD, s/p renal transplant HTN L 0.8 2 UF 1a 4 F 48 AA ESRD on dialysis HTN R 1.2 2 UF 1a CC-RCC on contralateral 5 F 58 AA HTN, HLD L 0.9 2 MF 1a kidney 6 F 71 AA None Obesity, HTN R 2.0 2 UF 1a Obesity, HTN, CAD, stroke, 7 F 55 AA None R 3.7 2 UF 1a SCD, Hep B 8 F 70 AA None Obesity, HTN, HLD, DM R 3.0 2 UF 1a CC-RCC on contralateral 9 M 67 AA HTN, CAD s/p MI R 2.7 2 UF 1a kidney 10 F 50 AA ESRD, angiomyolipoma Obesity, HTN, DM L 1.4 2 UF 1a 11 M 57 AA None Obesity, HTN, DM L 2.5 2 UF 1a Obesity, HTN, Alpha-1 12 F 70 W CKD L 0.6 2 UF 1a antitrypsin deficiency Obesity, HTN, HLD, DM, 13 F 71 AA CKD, B/L CC-RCC L 1.4 2 UF 1a breast Ca Bilateral renal cystic 14 M 79 AA HTN, daughter with RCC L UK 2 MF UK lesions ESRD, ACKD s/p renal 15 M 57 AA Obesity, HTN, HLD R 3.6 2 UF 1a transplant 16 F 50 W None Obesity, DM, carcinoid L 3.5 2 UF 1a Renal calculi on right 17 M 68 W Obesity, HTN, DM R 2.0 2 UF 1a kidney 18 M 25 W Calculus on left kidney Obesity L 5.5 1 UF 1b B/L CCP-RCC + CC-RCC 5.4 19 F 54 AA Obesity, HTN, HLD. B/L 2MF1b on the right (largest) 20 F 75 AA CKD, h/o B/L CC-RCC HTN, HLP, DM L 0.4 1 UF 1a 21 F 59 AA ESRD Obesity, HTN, Urothelial CA L 2.3 3 UF 1a 22 M 66 AA ESRD on dialysis Obesity, HTN, HLD R 2.0 2 MF 1a Abbreviations: AA, African American; ACKD, acute on CKD; B/L, bilateral; CA, carcinoma; CAD: coronary artery disease; DM, diabetes mellitus; F, female; HLD, hyperlipidemia; HTN, hypertension; L, left; M, male; MI, myocardial infarction; MF, multifocal; R, right; RCC, renal cell carcinoma; SCD, sickle cell disease; UF, unifocal; W, white.
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