Hereditary leiomyomatosis and renal cell cancer syndrome associated renal cell carcinoma

被引：2

作者：

Adamane, Shraddha ^{[1
]}

Desai, Sangeeta ^{[1
]}

Menon, Santosh ^{[1
]}

机构：

[1] Tata Mem Hosp, Dept Pathol, 8th Floor,Annexe Bldg, Bombay 400012, Maharashtra, India

来源：

INDIAN JOURNAL OF PATHOLOGY AND MICROBIOLOGY | 2017年 / 60卷 / 01期

关键词：

Hereditary; immunohistochemistry; leiomyomatosis; renal; HOGG-DUBE-SYNDROME; KIDNEY TUMORS; MUTATIONS; GERMLINE;

D O I：

10.4103/0377-4929.200025

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a recently described entity with unknown exact prevalence. The affected individuals are predisposed to have multiple leiomyomas and renal cancer due to germline mutation in fumarate hydratase gene on chromosome 1. The knowledge of this rare tumour is essential for early recognition and institution of appropriate therapy, since they have a grave prognosis. Herein, we present the first case from India of HLRCC in a 42 year old lady who presented with a renal mass and metastasis with consequent fulminant course of disease. We discuss the detailed histomorphologic features and iunique immunohistochemical signature of this unusual renal tumour with discussion of differential diagnosis.

引用

页码：108 / 110

页数：3

共 10 条

[1] Hereditary Leiomyomatosis and Reenal Cell Carcinoma Syndrome-associated Renal Cancer Recognition of the Syndrome by Pathologic Features and the Utility of Detecting Aberrant Succination by Immunohistochemistry [J].

Chen, Ying-Bei ;

Brannon, A. Rose ;

Toubaji, Antoun ;

Dudas, Maria E. ;

Won, Helen H. ;

Al-Ahmadie, Hikmat A. ;

Fine, Samson W. ;

Gopalan, Anuradha ;

Frizzell, Norma ;

Voss, Martin H. ;

Russo, Paul ;

Berger, Michael F. ;

Tickoo, Satish K. ;

Reuter, Victor E. .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2014, 38 (05) :627-637

[2]

Kiuru M, 2002, CANCER RES, V62, P4554

[3] Inherited susceptibility to uterine leiomyomas and renal cell cancer [J].

Launonen, V ;

Vierimaa, O ;

Kiuru, M ;

Isola, J ;

Roth, S ;

Pukkala, E ;

Sistonen, P ;

Herva, R ;

Aaltonen, LA .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (06) :3387-3392

[4] The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome [J].

Merino, Maria J. ;

Torres-Cabala, Carlos ;

Pinto, Peter ;

Linehan, William Marston .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2007, 31 (10) :1578-1585

[5] Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome [J].

Nickerson, ML ;

Warren, MB ;

Toro, JR ;

Matrosova, V ;

Glenn, G ;

Turner, ML ;

Duray, P ;

Merino, M ;

Choyke, P ;

Pavlovich, CP ;

Sharma, N ;

Walther, M ;

Munroe, D ;

Hill, R ;

Maher, E ;

Greenberg, C ;

Lerman, MI ;

Linehan, WM ;

Zbar, B ;

Schmidt, LS .

CANCER CELL, 2002, 2 (02) :157-164

[6] Renal tumors in the Birt-Hogg-Dube syndrome [J].

Pavlovich, CP ;

Walther, MA ;

Eyler, RA ;

Hewitt, SM ;

Zbar, B ;

Linehan, WM ;

Merino, MJ .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2002, 26 (12) :1542-1552

[7] Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas [J].

Schmidt, L ;

Duh, FM ;

Chen, F ;

Kishida, T ;

Glenn, G ;

Choyke, P ;

Scherer, SW ;

Zhuang, ZP ;

Lubensky, I ;

Dean, M ;

Allikmets, R ;

Chidambaram, A ;

Bergerheim, UR ;

Feltis, JT ;

Casadevall, C ;

Zamarron, A ;

Bernues, M ;

Richard, S ;

Lips, CJM ;

Walther, MM ;

Tsui, LC ;

Geil, L ;

Orcutt, ML ;

Stackhouse, T ;

Lipan, J ;

Slife, L ;

Brauch, H ;

Decker, J ;

Niehans, G ;

Hughson, MD ;

Moch, H ;

Storkel, S ;

Lerman, MI ;

Linehan, WM ;

Zbar, B .

NATURE GENETICS, 1997, 16 (01) :68-73

[8]

Srigley JR, 2013, AM J SURG PATHOL, V37, P1469, DOI 10.1097/PAS.0b013e318299f2d1

[9] Familial non-VHL non-papillary clear-cell renal cancer [J].

Teh, BT ;

Giraud, S ;

Sari, NF ;

Hii, SI ;

Bergerat, JP ;

Larsson, C ;

Limacher, JM ;

Nicol, D .

LANCET, 1997, 349 (9055) :848-849

[10] Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer [J].

Tomlinson, IPM ;

Alam, NA ;

Rowan, AJ ;

Barclay, E ;

Jaeger, EEM ;

Kelsell, D ;

Leigh, I ;

Gorman, P ;

Lamlum, H ;

Rahman, S ;

Roylance, RR ;

Olpin, S ;

Bevan, S ;

Barker, K ;

Hearle, N ;

Houlston, RS ;

Kiuru, M ;

Lehtonen, R ;

Karhu, A ;

Vilkki, S ;

Laiho, P ;

Eklund, C ;

Vierimaa, O ;

Aittomäki, K ;

Hietala, M ;

Sistonen, P ;

Paetau, A ;

Salovaara, R ;

Herva, R ;

Launonen, V ;

Aaltonen, LA .

NATURE GENETICS, 2002, 30 (04) :406-410

← 1 →