Histologic diversity in chromophobe renal cell carcinoma does not impact survival outcome: A comparative international multi-institutional study

Kolář, Jiří; Llaurado, Andrea Feu; Ulamec, Monika; Skenderi, Faruk; Pérez-Montiel, Delia; Alvarado‐Cabrero, Isabel; Bulimbašić, Stela; Sperga, Māris; Tretiakova, Maria; Osunkoya, Adeboye O.; Rogala, Joanna; Compérat, Éva; Gál, Viliam; Dunatov, Ana; Pivovarčíková, Kristýna; Michalová, Květoslava; Vesela, Adriena Bartos; Slisarenko, Maryna; Strakova, Andrea Peterikova; Pitra, Tomáš; Hora, Milan; Michal, Michal; Alaghehbandan, Reza; Hes, Ondřej

doi:10.1016/j.anndiagpath.2022.151978

Cited by 5 publications

(6 citation statements)

References 26 publications

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“…Of note, 4 of 5 chromophobe RCCs in our study showed classic chromophobe morphology including large polygonal cells with distinct cell borders (leaf/plant-like), smaller cells with eosinophilic cytoplasm, wrinkled irregular hyperchromatic nuclei (raisinoid), and perinuclear halos 10 . The fifth was a “multicystic pigmented” chromophobe RCC, a pattern with variably cystic to cribriform architecture and both intracytoplasmic and extracellular pigment, unique histologic findings that do not impact expected clinical behavior 10,28 . The genomic landscape of chromophobe RCC is complex.…”

Section: Discussionmentioning

confidence: 82%

“…10 The fifth was a "multicystic pigmented" chromophobe RCC, a pattern with variably cystic to cribriform architecture and both intracytoplasmic and extracellular pigment, unique histologic findings that do not impact expected clinical behavior. 10,28 The genomic landscape of chromophobe RCC is complex. Whereas classic sporadic examples have losses of chromosomes 1, 2, 6, 10, 30, 70, 21, comprehensive genomic analysis has also shown a low somatic mutation rate, including TP53, PTEN, TERT promoter, FOXI1, RHCG, LINC01187, and CYCLOPS genes.…”

Section: Discussionmentioning

confidence: 99%

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Renal Neoplasia Occurring in Patients With PTEN Hamartoma Tumor Syndrome

Kozman¹,

Kao

Nguyen³

et al. 2023

American Journal of Surgical Pathology

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The aim of this study was to assess the histopathologic spectrum of renal tumors in patients with PTEN hamartoma tumor syndrome (PHTS), with a specific focus on potential features predictive of the underlying syndrome. A multi-institutional study was conducted to obtain clinical and pathologic data on renal tumors arising in patients with PHTS, either diagnosed by germline mutational analysis or clinical criteria for Cowden syndrome. Histologic sections of the renal tumors were re-reviewed for classification. Twelve renal epithelial tumors from 9 patients were identified (4 males and 5 females, with a mean age of 41.8 y), 7 of whom carried germline PTEN mutations. All 12 renal epithelial tumors were renal cell carcinomas (RCCs): 5 were chromophobe RCCs, 4 papillary RCCs, and 3 RCC not otherwise specified. Pathologic stage distribution was: 7 (59%) pT1a, 2 (17%) pT1b, 1 (8%) pT2a, 1 (8%) pT2b, and 1 (8%) pT3a. World Health Organization/International Society of Urological Pathology (WHO/ISUP) histologic grade was applicable in 7 (54%) nonchromophobe tumors: 4 (57%) G2, 2 (29%) G3, and 1 (14%) G4. An unexpected histologic finding was the presence of 2 patients with incidental microscopic collections of intrarenal adipocytes that had no features of angiomyolipoma (and were negative with 2 sensitive PEComa markers: cathepsin-K and GPNMB); both were classified as lipoma/“lipomatous hamartomas.” The average follow-up interval was 67.8 months (13 to 172 mo): 5 patients had no evidence of disease, 2 were lost to follow-up, 1 died of other (non-PHTS) causes (ie, prostate cancer), and 1 was alive with metastatic RCC to the lung (RCC not otherwise specified with rhabdoid differentiation). All tumors showed loss of nuclear PTEN staining by immunohistochemistry. Fumarate hydratase was retained and 2SC was negative in all papillary RCCs. CK7 was moderate-strong/diffuse positive in 4 of 5 chromophobe RCCs and in 3 of 4 papillary RCCs. Renal epithelial tumors associated with PHTS represent a heterogeneous group of RCCs, but classic chromophobe and papillary RCC are most common. The majority have a favorable clinical behavior as would be predicted by subtype. In contrast to other hereditary renal neoplasia syndromes, morphologic features of the RCCs do not allow identification of PHTS-associated neoplasia with any degree of specificity in the absence of clinical setting and/or prior history, but the presence of microscopic “lipomas” within the kidney may provide a clue in rare cases. Therefore, clinical suspicion and genetic counseling with germline testing remain necessary for identifying PHTS-associated RCC.

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Section: Discussionmentioning

confidence: 82%

Section: Discussionmentioning

confidence: 99%

Renal Neoplasia Occurring in Patients With PTEN Hamartoma Tumor Syndrome

Kozman¹,

Kao

Nguyen³

et al. 2023

American Journal of Surgical Pathology

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“…51,53,54 The immunophenotype of cystic ChRCC is identical to that of conventional ChRCC except for more frequent AMACR expression. [50][51][52] Interestingly, the vast majority of microcystic/cystic ChRCC cases also had genetic features similar to conventional ChRCCC with frequent losses of chromosomes 1, 2, 6, 10, 13, 21, and polysomy of chromosome 7. 49,52,54 All the ChRCC cases with cystic phenotype have shown an indolent behavior, absence of sarcomatoid transformation, and no distant metastases except for 2 patients but who remained alive after median follow-up of 6 years.…”

Section: Chromophobe Rcc With Cystic Featuresmentioning

confidence: 97%

“…49 However, among rare ChRCC morphologic subtypes, adenomatoid microcystic/pigmented accounted for 75% of cases and multicystic growth comprised 11% of cases. 50 There are currently > 120 tumors of ChRCC with cystic change characterized morphologically, immunohistochemically, and molecularly 8,50-54 ; however, Bosniak classification was not reported except in these rare tumors. Cystic ChRCC is characterized by 2 growth patterns with (1) variable-sized cysts resembling MCNLMP and (2) compressed cystic and tubular structures with slip-like spaces.…”

Section: Chromophobe Rcc With Cystic Featuresmentioning

confidence: 99%

“…ChRCC comprising the third most common RCC subtype could present with adenomatoid cystic/pigmented and multicystic growth in ∼1.5% of cases 49 . However, among rare ChRCC morphologic subtypes, adenomatoid microcystic/pigmented accounted for 75% of cases and multicystic growth comprised 11% of cases 50 . There are currently >120 tumors of ChRCC with cystic change characterized morphologically, immunohistochemically, and molecularly 8,50–54 ; however, Bosniak classification was not reported except in these rare tumors.…”

Section: Nonclear Cell Tumors With Cystic Featuresmentioning

confidence: 99%

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Cystic Features in Renal Epithelial Neoplasms and Their Increasing Clinical and Pathologic Significance

Tretiakova,

Kwon,

Paner

2024

Advances in Anatomic Pathology

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Most cystic renal tumors after resection (Boniak IIF to IV cysts) have an indolent course despite the significantly higher proportion of malignant [ie, renal cell carcinoma (RCC)] diagnosis. Most cystic renal tumors have clear cell histology that include cystic clear cell RCC and multilocular cystic renal neoplasm of low malignant potential (MCNLMP). There is growing evidence to suggest that MCNLMP, cystic clear cell RCC, and noncystic clear cell RCC form a cystic-to-solid biological spectrum with MCNLMP representing the most indolent form and with cystic clear cell RCC behaving better than noncystic (solid) clear cell RCC. Extensively (>75%) cystic clear cell RCC also has an excellent outcome similar to MCNLMP stressing the need to reevaluate the histologic criteria that separate these 2 cystic clear cell tumors. Other tumors with clear cells that can be extensively cystic such as the recently reclassified noncancerous clear cell papillary renal tumor and the newly described MED15::TFE3 RCC also have indolent course and may mimic MCNLMP. Cystic features occur also in renal tumors with nonclear cell histology including tumors capable of metastasis such as acquired cystic disease-associated, tubulocystic, fumarate hydratase-deficient, and eosinophilic solid and cystic RCCs. Cystic imaging presentation of some renal tumors such as papillary RCC can be attributed in part to pseudocystic necrosis and hemorrhage. It is important to know that tubulocystic RCC may have a lower Bosniak class presentation that overlaps with benign renal cysts (Bosniak I to IIF) that are managed conservatively. This review highlights the cystic renal tumors with clear cell and nonclear cell morphologies including some novel RCC subtypes that may have cystic features. The presence of cystic features and their extent may aid in the classification and prognostication of renal neoplasms underscoring its increasing importance in the pathologic diagnosis and reporting of renal neoplasia.

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