Adult Wilms Tumor Genetic Evidence of Origin of a Subset of Cases From Metanephric Adenoma

被引:5
作者
Argani, Pedram [1 ,2 ]
Tickoo, Satish K. [4 ]
Matoso, Andres [1 ,3 ]
Pratilas, Christine A. [2 ]
Mehra, Rohit [5 ]
Tretiakova, Maria [6 ]
Sibony, Mathilde [7 ]
Meeker, Alan K. [1 ]
Lin, Ming-Tseh [1 ,2 ]
Reuter, Victor E. [4 ]
Epstein, Jonathan I. [1 ,2 ,3 ]
Gagan, Jeffrey [8 ]
Palsgrove, Doreen N. [8 ]
机构
[1] Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD USA
[2] Johns Hopkins Univ, Sch Med, Dept Oncol, Baltimore, MD USA
[3] Johns Hopkins Univ, Sch Med, Dept Urol, Baltimore, MD USA
[4] Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New York, NY 10021 USA
[5] Univ Michigan, Dept Pathol, Sch Med, Ann Arbor, MI 48109 USA
[6] Univ Washington, Dept Pathol & Lab Med, Seattle, WA 98195 USA
[7] Cochin Hosp, Dept Pathol, Paris, France
[8] Univ Texas Southwestern Med Ctr Dallas, Dept Pathol, Dallas, TX 75390 USA
关键词
renal neoplasm; BRAF; metanephric; Wilms; SQUAMOUS-CELL CARCINOMA; BRAF MUTATIONS; TGF-BETA; EXPRESSION; CATENIN; CANCER; MECHANISMS; PATHOLOGY; ONCOLOGY; SURVIVAL;
D O I
10.1097/PAS.0000000000001864
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
The genetics of nephroblastoma (Wilms tumor) occurring in adults is largely unknown, as studies have largely been limited to isolated case reports. We, therefore, studied 14 adult Wilms tumors for genetic alterations, using expanded targeted sequencing on 11 cases. The patients ranged from 17 to 46 years of age (mean and median, 31 y), and there were 8 males and 6 females. Five Wilms tumors harbored BRAF V600E mutations. All of these had better-differentiated areas identical to metanephric adenoma, as has previously been described. In 3 such cases, microdissection studies revealed that the BRAF V600E mutation was present in both the metanephric adenoma and Wilms tumor areas; however, additional genetic alterations (including TERT promoter mutations in 2 cases, ASLX1/ATR mutations in 1 other case) were limited to the Wilms tumor component. These findings suggest that the Wilms tumor developed from the metanephric adenoma. Other adult Wilms tumors harbored genetic alterations previously reported in the more common pediatric Wilms tumors, including WT1 mutations (2 cases), ASLX1 mutations (3 additional cases), NSD2 mutation (1 additional case), and 11p loss (3 cases). In summary, a significant subset of adult Wilms tumors (specifically those of epithelial type with differentiated areas) harbor targetable BRAF V600E mutations and appear to arise from metanephric adenomas as a consequence of additional acquired genetic alterations. Other adult Wilms tumors often harbor genetic alterations found in their more common pediatric counterparts, suggesting at least some similarities in their pathogenesis.
引用
收藏
页码:988 / 999
页数:12
相关论文
共 70 条
  • [1] A Surveillance, Epidemiology and End Results (SEER) program comparison of adult and pediatric Wilms' tumor
    Ali, Arif N.
    Diaz, Roberto
    Shu, Hui-Kuo
    Paulino, Arnold C.
    Esiashvili, Natia
    [J]. CANCER, 2012, 118 (09) : 2541 - 2551
  • [2] Primary renal synovial sarcoma - Molecular and morphologic delineation of an entity previously included among embryonal sarcomas of the kidney
    Argani, P
    Faria, PA
    Epstein, JI
    Reuter, VE
    Perlman, EJ
    Beckwith, JB
    Ladanyi, M
    [J]. AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2000, 24 (08) : 1087 - 1096
  • [3] Metanephric stromal tumor - Report of 31 cases of a distinctive pediatric renal neoplasm
    Argani, P
    Beckwith, JB
    [J]. AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2000, 24 (07) : 917 - 926
  • [4] Metanephric neoplasms: The hyperdifferentiated, benign end of the Wilms tumor spectrum?
    Argani, P
    [J]. CLINICS IN LABORATORY MEDICINE, 2005, 25 (02) : 379 - +
  • [5] ARRIGO S, 1990, CANCER-AM CANCER SOC, V66, P827, DOI 10.1002/1097-0142(19900901)66:5<827::AID-CNCR2820660502>3.0.CO
  • [6] 2-0
  • [7] The spectrum of metanephric adenofibroma and related lesions - Clinicopathologic study of 25 cases from the National Wilms Tumor Study Group Pathology Center
    Arroyo, MR
    Green, DM
    Perlman, EJ
    Beckwith, JB
    Argani, P
    [J]. AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2001, 25 (04) : 433 - 444
  • [8] The role of ASXL1 in hematopoiesis and myeloid malignancies
    Asada, Shuhei
    Fujino, Takeshi
    Goyama, Susumu
    Kitamura, Toshio
    [J]. CELLULAR AND MOLECULAR LIFE SCIENCES, 2019, 76 (13) : 2511 - 2523
  • [9] The Role of Nuclear Receptor-Binding SET Domain Family Histone Lysine Methyltransferases in Cancer
    Bennett, Richard L.
    Swaroop, Alok
    Troche, Catalina
    Licht, Jonathan D.
    [J]. COLD SPRING HARBOR PERSPECTIVES IN MEDICINE, 2017, 7 (06):
  • [10] Mechanisms of Receptor Tyrosine-Protein Kinase ErbB-3 (ERBB3) Action in Human Neoplasia
    Black, Laurel E.
    Longo, Jody F.
    Carroll, Steven L.
    [J]. AMERICAN JOURNAL OF PATHOLOGY, 2019, 189 (10) : 1898 - 1912