Renal cell carcinoma, unclassified with medullary phenotype: poorly differentiated adenocarcinomas overlapping with renal medullary carcinoma

被引:32
作者
Sirohi, Deepika [1 ]
Smith, Steven C. [2 ,3 ]
Ohe, Chisato [1 ,4 ]
Colombo, Piergiuseppe [5 ]
Divatia, Mukul [1 ]
Dragoescu, Ema [2 ,3 ]
Rao, Priya [6 ]
Hirsch, Michelle S. [7 ]
Chen, Ying-Bei [8 ]
Mehra, Rohit [9 ,10 ]
Amin, Mahul B. [1 ,11 ]
机构
[1] Cedars Sinai Med Ctr, Dept Pathol & Lab Med, Los Angeles, CA 90048 USA
[2] Virginia Commonwealth Univ, Sch Med, Dept Pathol, Med Coll Virginia Campus, Richmond, VA 23298 USA
[3] Virginia Commonwealth Univ, Sch Med, Dept Urol, Med Coll Virginia Campus, Richmond, VA 23298 USA
[4] Kansai Med Univ, Dept Pathol, Osaka 5731010, Japan
[5] Humanitas Univ, IRCCS, Humanitas Res Ctr, Dept Pathol, I-20089 Milan, Italy
[6] Univ Texas MD Anderson Canc Ctr, Dept Pathol, Houston, TX 77030 USA
[7] Harvard Univ, Sch Med, Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA
[8] Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10065 USA
[9] Univ Michigan, Dept Pathol, Ann Arbor, MI 48109 USA
[10] Univ Michigan, Michigan Ctr Translat Pathol, Ann Arbor, MI 48109 USA
[11] Univ Tennessee Hlth Sci, Dept Pathol & Lab Med, 930 Madison Ave,Suite 531, Memphis, TN 38163 USA
关键词
Renal medullary carcinoma; Renal cell carcinoma; unclassified; SMARCB1; Collecting duct carcinoma; Sickle cell trait; Hemoglobinopathy; HEREDITARY LEIOMYOMATOSIS; RHABDOID FEATURES; INI1; EXPRESSION; TUMORS; CLASSIFICATION; DIAGNOSIS; IMMUNOHISTOCHEMISTRY; SMARCB1/INI1; NEOPLASIA; ABSENCE;
D O I
10.1016/j.humpath.2017.07.006
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Renal medullary carcinoma (RMC) is a highly aggressive renal cell carcinoma arising in the collecting system and requiring careful correlation with status of sickle cell trait. A panel of international experts has recently proposed provisional diagnostic terminology, renal cell carcinoma, unclassified, with medullary phenotype, based on encountering an extraordinarily rare tumor with RMC morphology and immunophenotype in an individual proven not to have a hemoglobinopathy. Herein, we extend this observation to a cohort of 5 such tumors, morphologically similar to RMC, lacking SMARCB1 expression by immunohistochemistry, but each without evidence of a hemoglobinopathy. The tumors arose in 4 men and 1 woman with a mean age of 44 years, occurring in 3 left and 2 right kidneys. Clinically, aggression was apparent with involvement of perinephric adipose tissue in all 5 cases, nodal metastasis in 4 of 5 cases, and death of disease in 4 of 5 cases within 3-27 months. Histologic sections showed poorly differentiated adenocarcinoma, often with solid and nested growth patterns, as well as infiltrative glandular, tubulopapillary, cribriform, or reticular growth. Rhabdoid and sarcomatoid cytomorphology was seen in a subset. All tumors showed PAX8 nuclear positivity and SMARCB1 loss, with OCT3/4 expression in 4 of 5 cases. In summary, this first series of renal cell carcinoma, unclassified, with medullary phenotype documents tumors with morphologic, immunophenotypic, and prognostic features of RMC occurring in individuals without sickle cell trait. Although greater biologic and molecular understanding is needed, the available evidence points to these cases representing a sporadic counterpart to sickle cell trait-associated RMC. (C) 2017 Elsevier Inc. All rights reserved.
引用
收藏
页码:134 / 145
页数:12
相关论文
共 50 条
  • [31] Renal Medullary Carcinoma Molecular, Immunohistochemistry, and Morphologic Correlation
    Liu, Qingyan
    Galli, Susanna
    Srinivasan, Ramaprasad
    Linehan, William Marston
    Tsokos, Maria
    Merino, Maria J.
    AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2013, 37 (03) : 368 - 374
  • [32] Renal medullary carcinoma - Case report and review of the literature
    Noguera-Irizarry, WG
    Hibshoosh, H
    Papadopoulos, KP
    AMERICAN JOURNAL OF CLINICAL ONCOLOGY-CANCER CLINICAL TRIALS, 2003, 26 (05): : 489 - 492
  • [33] Renal medullary carcinoma - Case report and review of the literature
    Leitao, Victor Augusto
    da Silva, Walter, Jr.
    Ferreira, Ubirajara
    Denardi, Fernandes
    Billis, Athanase
    Netto, Nelson Rodrigues, Jr.
    UROLOGIA INTERNATIONALIS, 2006, 77 (02) : 184 - 186
  • [34] Renal medullary carcinoma in a patient with sickle-cell disease
    Sathyamoorthy, Kumaran
    Teo, Arnold
    Atallah, Marwan
    NATURE CLINICAL PRACTICE UROLOGY, 2006, 3 (05): : 279 - 283
  • [35] Renal cell neoplasm of oncocytosis: a type of unclassified renal cell carcinoma
    Masatake Shinohara
    Shoji Samma
    Yoshihiro Matsumoto
    Yoriaki Kagebayashi
    Yasushi Nakai
    Kazumasa Torimoto
    Keiji Shimada
    CEN Case Reports, 2014, 3 (1) : 10 - 13
  • [36] Cystic presentation of a renal medullary carcinoma in a young woman
    Sandri, Giovanni Battista Levi
    Spoletini, Gabriele
    Lai, Quirino
    Mennini, Gianluca
    Rossi, Massimo
    UROLOGIA JOURNAL, 2015, 82 (02) : 124 - 126
  • [37] Genomic Characterization of Renal Medullary Carcinoma and Treatment Outcomes
    Carlo, Maria I.
    Chaim, Joshua
    Patil, Sujata
    Kemel, Yelena
    Schram, Alison M.
    Woo, Kaitlin
    Coskey, Devyn
    Nanjangud, Gouri J.
    Voss, Martin H.
    Feldman, Darren R.
    Hsieh, James J.
    Hakimi, A. Ari
    Chen, Ying-Bei
    Motzer, Robert J.
    Lee, Chung-Han
    CLINICAL GENITOURINARY CANCER, 2017, 15 (06) : E987 - E994
  • [38] Collecting Duct Carcinoma Versus Renal Medullary Carcinoma An Appeal for Nosologic and Biological Clarity
    Amin, Mahul B.
    Smith, Steven C.
    Agaimy, Abbas
    Argani, Pedram
    Comperat, Eva Marie
    Delahunt, Brett
    Epstein, Jonathan I.
    Eble, John N.
    Grignon, David J.
    Hartmann, Arndt
    Hes, Ondrej
    Hirsch, Michelle S.
    Jimenez, Rafael E.
    Kunju, Lakshmi P.
    Martignoni, Guido
    McKenney, Jesse K.
    Moch, Holger
    Montironi, Rodolfo
    Paner, Gladell P.
    Rao, Priya
    Srigley, John R.
    Tickoo, Satish K.
    Reuter, Victor E.
    AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2014, 38 (07) : 871 - 874
  • [39] Renal cell neoplasm of oncocytosis: a type of unclassified renal cell carcinoma
    Shinohara, Masatake
    Samma, Shoji
    Matsumoto, Yoshihiro
    Kagebayashi, Yoriaki
    Nakai, Yasushi
    Torimoto, Kazumasa
    Shimada, Keiji
    CEN CASE REPORTS, 2014, 3 (01): : 10 - 13
  • [40] Renal medullary carcinoma masquerading as renal infection: a case report
    Zhong-Ming Huang
    Hai Wang
    Zhi-Gang Ji
    BMC Nephrology, 21