Succinate dehydrogenase deficient renal cell carcinoma frequently expresses GATA3 and L1CAM

被引：0

作者：

Sangoi, Ankur R. ^{[1
]}

Williamson, Sean R. ^{[2
]}

Oktay, Murat ^{[3
]}

Gill, Anthony J. ^{[4
,5
]}

Trpkov, Kiril ^{[6
,7
]}

Siadat, Farshid ^{[6
,7
]}

Maclean, Fiona ^{[8
]}

Galea, Laurence A. ^{[9
]}

Baydar, Deniz Ertoy ^{[10
]}

Cakir, Caglar ^{[11
]}

Karabulut, Yasemin Yuyucu ^{[12
]}

Baycelebi, Deniz ^{[13
]}

Coban, Ganime ^{[14
]}

Sarsik, Banu ^{[15
]}

Bayrak, Busra Yaprak ^{[16
]}

Kuthi, Levente ^{[17
,18
,19
]}

Posfai, Boglarka ^{[20
]}

Mobeen, Aysha ^{[21
]}

Mohanty, Sambit K. ^{[22
]}

Zhang, Xulang ^{[23
]}

Alghamdi, Mohammed A. ^{[23
]}

Cheng, Liang ^{[24
,25
]}

Hirsch, Michelle S. ^{[26
]}

Akgul, Mahmut ^{[26
]}

机构：

[1] Stanford Univ, Dept Pathol, Stanford, CA USA

[2] Cleveland Clin, Dept Pathol & Lab Med, Cleveland, OH USA

[3] Mem Hosp, Dept Gastroenterol, Istanbul, Turkiye

[4] Univ Sydney, Sydney Med Sch, Sydney, Australia

[5] Royal North Shore Hosp, Dept Anat Pathol, NSW Hlth Pathol, St Leonards, Australia

[6] Alberta Precis Labs, Dept Pathol & Lab Med, Calgary, AB, Canada

[7] Univ Calgary, Calgary, AB, Canada

[8] Douglass Hanly Moir Pathol, Macquarie Pk, Australia

[9] Son Healthcare, Dept Anat Pathol Melbourne Pathol, Melbourne, Vic, Australia

[10] Acibadem Univ, Dept Pathol, Istanbul, Turkiye

[11] Cemil Tascioglu City Hosp, Dept Dermatol, Istanbul, Turkiye

[12] Mersin Univ, Sch Med, Dept Pathol, Mersin, Turkiye

[13] Ondokuz Mayis Univ, Dept Pathol, Samsun, Turkiye

[14] Bezmialem Vakif Univ, Dept Pathol, Istanbul, Turkiye

[15] Ege Univ, Sch Med, Dept Pathol, Izmir, Turkiye

[16] Kocaeli Univ, Sch Med, Dept Pathol, Kocaeli, Turkiye

[17] Natl Inst Oncol, Dept Surg, Budapest, Hungary

[18] Natl Inst Oncol, Mol Pathol Ctr, Budapest, Hungary

[19] Semmelweis Univ, Dept Pathol & Expt Canc Res, Budapest, Hungary

[20] Szeged Univ, Sch Med, Dept Pathol, Szeged, Hungary

[21] Univ New Mexico, Dept Pathol & Lab Med, Albuquerque, NM 87106 USA

[22] Core Diagnost, Gurgaon, India

[23] Albany Med Ctr, Dept Pathol & Lab Med, Albany, NY USA

[24] Brown Univ, Legorreta Canc Ctr, Dept Pathol & Lab Med, Dept Surg Urol,Warren Alpert Med Sch, Providence, RI USA

[25] Brown Univ Hlth, Providence, RI USA

[26] Brigham & Womens Hosp, Dept Pathol & Lab Med, 75 Francis St, Boston, MA 02115 USA

来源：

VIRCHOWS ARCHIV | 2025年 / 486卷 / 06期

关键词：

Succinate dehydrogenase deficient renal cell carcinoma; GATA3; L1CAM; ADHESION MOLECULE; TUMORS; L1;

D O I：

10.1007/s00428-025-04078-6

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Succinate dehydrogenase deficient renal cell carcinoma (SDH RCC) is an uncommon, familial RCC that has overlapping morphologic features with other low grade eosinophilic tumors of the kidney. Although the diagnosis of SDH RCC relies on loss of SDHB by immunohistochemistry (IHC), not all laboratories have access to this antibody. GATA3 and L1CAM are increasingly utilized in the diagnosis of eosinophilic renal tumors; however, their expression profile has not been studied in SDH RCC. We evaluated clinical parameters and GATA3 and L1CAM reactivity in a large nephrectomy cohort (n = 40) of patients with SDH RCC. The male-to-female ratio was 3:1 and the median age was 48 years (range: 17 to 79 years). Specimens included 20 radical resections, 19 partial resections, and 1 unknown procedure. Tumor laterality was nearly equal (right:left = 18:20; one case was bilateral). Tumors in 4 (10%) patients were multifocal. Median tumor size was 2.0 cm (range 1 - 14.8 cm). Tumor stage distribution was: pT1a (n = 16, 40%), pT1b (n = 7, 18%), pT2a (n = 5, 13%), pT2b (n = 4, 10%), pT3a (n = 6, 15%), and pT4 (n = 1, 3%). Most cases (n = 33, 83%) exhibited classical morphologic features, whereas 2/40 (5%) had sarcomatoid differentiation. GATA3 was positive in 37/39 (95%) tumors, with more than 50% of cells positive in 35/37 (95%), and with moderate-high intensity (2/3 +) in 33/37 (89%). L1CAM was expressed in 13/18 (72%) tumors, with moderate-high intensity (2/3 +) in 10/13 (77%). When both markers were performed, dual GATA3/L1CAM expression was present in 12/17 (71%) tumors. As L1CAM has been postulated to represent a marker of principal cell of the distal nephron, frequent L1CAM expression in SDH RCC suggests that they may originate from the principal cells of the distal nephron.

引用

页码：1247 / 1256

页数：10

共 28 条

[1] GATA3 in Renal Neoplasms: Increased Utility and Potential Pitfalls [J].