Skip to main content
main-content

01.12.2017 | Research article | Ausgabe 1/2017 Open Access

BMC Urology 1/2017

BAP1 and PBRM1 in metastatic clear cell renal cell carcinoma: tumor heterogeneity and concordance with paired primary tumor

Zeitschrift:
BMC Urology > Ausgabe 1/2017
Autoren:
Jeanette E. Eckel-Passow, Daniel J. Serie, John C. Cheville, Thai H. Ho, Payal Kapur, James Brugarolas, R. Houston Thompson, Bradley C. Leibovich, Eugene D. Kwon, Richard W. Joseph, Alexander S. Parker

Abstract

Background

BAP1 and PBRM1 are frequently mutated in primary clear cell renal cell carcinoma (ccRCC) tumors; however, the frequency and clinical relevance of these mutations in metastatic ccRCC tumors is unknown. Additionally, while intra-tumor heterogeneity has been shown to be common in primary ccRCC, little is known regarding heterogeneity in metastatic ccRCC tumors.

Materials and methods

We analyzed BAP1 and PBRM1 loss of protein expression in patient-matched primary and metastatic tumors from 97 patients. Expression was determined using a validated immunohistochemistry assay, which has been shown to be correlated with mutation status.

Results

Of the 97 patients evaluated, 20 and 57% showed loss of BAP1 and PBRM1 in their primary tumors, respectively. Comparing expression across patient-matched primary-metastatic tumor pairs, 98 and 90% had concordant BAP1 and PBRM1 expression, respectively. Both patients who demonstrated discordant BAP1 expression showed loss of BAP1 expression during progression to metastatic ccRCC. Similarly, seven of the ten patients that demonstrated discordant PBRM1 expression showed loss of PBRM1 expression during progression to metastatic ccRCC. We evaluated intra-metastatic tumor heterogeneity using 12 patients who had multiple blocks available from the same tumor with representative pathology; 100 and 92% showed concordant BAP1 and PBRM1 expression, respectively. Amongst 32 patients who had serial metastatic tumors available, both BAP1 and PBRM1 had 97% concordant expression.

Conclusions

We observed minimal intra- and inter- tumor heterogeneity in metastatic ccRCC tumors. Patients with discordant BAP1 or PBRM1 expression across their matched primary and metastatic tumors usually showed loss of expression during progression to metastatic ccRCC.
Literatur
Über diesen Artikel

Weitere Artikel der Ausgabe 1/2017

BMC Urology 1/2017 Zur Ausgabe

Neu im Fachgebiet Urologie

Meistgelesene Bücher in der Urologie

2016 | Buch

Anogenitale Hautkrankheiten

Erkennen, Befunden, Behandeln

Hautkrankheiten im Bereich Genitale werden werden oft erstmals von einem Facharzt beobachtet, der sich mit anderen genitalen Beschwerden beschäftigt – der Urologe bei Männern oder der Gynäkologe bei Frauen. Dieses Buch schult den Blick für anogenitale Dermatosen und gibt Tipps zur Therapie.

Herausgeber:
Walter Krause, Isaak Effendy

2015 | Buch

Inkontinenz- und Deszensuschirurgie der Frau

Harninkontinenz ist eines der häufigsten Symptome in der Urologie und Gynäkologie. OP-Atlas, unverzichtbarer Ratgeber, kompaktes Nachschlagewerk in einem: Mithilfe dieses Buches werden Sie Spezialist in Sachen Inkontinenz- und Deszensuschirurgie.

Herausgeber:
Rainer Hofmann, Uwe Wagner

Mail Icon II Newsletter

Bestellen Sie unseren kostenlosen Newsletter Update Urologie und bleiben Sie gut informiert – ganz bequem per eMail.

Bildnachweise