Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree

被引：0

作者：

Choi, Grace ^{[1
]}

Kimonis, Virginia ^{[2
]}

Hall, Katherine ^{[2
]}

Lau, Wei Ling ^{[1
]}

机构：

[1] Univ Calif Irvine, Dept Med, Div Nephrol, Irvine, CA 92717 USA

[2] Univ Calif Irvine, Dept Med, Div Genet & Metab, Irvine, CA 92717 USA

来源：

AMERICAN JOURNAL OF THE MEDICAL SCIENCES | 2020年 / 360卷 / 06期

关键词：

HLRCC; Hereditary leiomyomatosis and renal cell cancer; Reed's syndrome; FH; MUTATIONS; UPDATE; RISK;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare familial cancer syndrome with a germline mutation in the fumarate hydratase gene. Affected individuals are predisposed to development of cutaneous leiomyomas, uterine leiomyomas, and papillary renal cell carcinoma. We present a case of a mother and son pair affected with HLRCC, discuss clinical management, and examine potential syndromic manifestations in extended family members. Annual imaging surveillance for kidney cancer is recommended since 20-30% of individuals develop aggressive papillary type II renal cell carcinoma that can be difficult to treat once it has metastasized.

引用

页码：724 / 727

页数：4

共 20 条

[1] Clinical features of multiple cutaneous and uterine leiomyomatosis - An underdiagnosed tumor syndrome [J].

Alam, NA ;

Barclay, E ;

Rowan, AJ ;

Tyrer, JP ;

Calonje, E ;

Manek, S ;

Kelsell, D ;

Leigh, I ;

Olpin, S ;

Tomlinson, IPM .

ARCHIVES OF DERMATOLOGY, 2005, 141 (02) :199-206

[2] Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status [J].

Bardella, Chiara ;

El-Bahrawy, Mona ;

Frizzell, Norma ;

Adam, Julie ;

Ternette, Nicola ;

Hatipoglu, Emine ;

Howarth, Kimberley ;

O'Flaherty, Linda ;

Roberts, Ian ;

Turner, Gareth ;

Taylor, Jennifer ;

Giaslakiotis, Konstantinos ;

Macaulay, Valentine M. ;

Harris, Adrian L. ;

Chandra, Ashish ;

Lehtonen, Heli J. ;

Launonen, Virpi ;

Aaltonen, Lauri A. ;

Pugh, Christopher W. ;

Mihai, Radu ;

Trudgian, David ;

Kessler, Benedikt ;

Baynes, John W. ;

Ratcliffe, Peter J. ;

Tomlinson, Ian P. ;

Pollard, Patrick J. .

JOURNAL OF PATHOLOGY, 2011, 225 (01) :4-11

[3] Immunohistochemistry for 2-Succinocysteine (2SC) and Fumarate Hydratase (FH) in Cutaneous Leiomyomas May Aid in Identification of Patients With HLRCC (Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome) [J].

Buelow, Benjamin ;

Cohen, Jarish ;

Nagymanyoki, Zoltan ;

Frizzell, Norma ;

Joseph, Nancy M. ;

McCalmont, Timothy ;

Garg, Karuna .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2016, 40 (07) :982-988

[4]

Emer Jason J, 2011, J Clin Aesthet Dermatol, V4, P37

[5] Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals [J].

Forde, Claire ;

Lim, Derek H. K. ;

Alwan, Yousef ;

Burghel, George ;

Butland, Laura ;

Cleaver, Ruth ;

Dixit, Abhijit ;

Evans, D. Gareth ;

Hanson, Helen ;

Lalloo, Fiona ;

Oliveira, Pedro ;

Vialard, Lindsey ;

Wallis, Yvonne ;

Maher, Eamonn R. ;

Woodward, Emma R. .

EUROPEAN UROLOGY ONCOLOGY, 2020, 3 (06) :664-672

[6] Familial leiomyomatosis: A review and discussion of pathogenesis [J].

Garman, ME ;

Blumberg, MA ;

Ernst, R ;

Raimer, SS .

DERMATOLOGY, 2003, 207 (02) :210-213

[7] Hereditary Renal Tumor Syndromes: Update on Diagnosis and Management [J].

Gaur, Sonia ;

Turkbey, Bans ;

Choyke, Peter .

SEMINARS IN ULTRASOUND CT AND MRI, 2017, 38 (01) :59-71

[8] 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

[9] Increased risk of cancer in patients with fumarate hydratase germline mutation [J].

Lehtonen, H. J. ;

Kiuru, M. ;

Ylisaukko-oja, S. K. ;

Salovaara, R. ;

Herva, R. ;

Koivisto, P. A. ;

Vierimaa, O. ;

Aittomaki, K. ;

Pukkala, E. ;

Launonen, V. ;

Aaltonen, L. A. .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (06) :523-526

[10] Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management [J].

Maher, Eamonn R. .

WORLD JOURNAL OF UROLOGY, 2018, 36 (12) :1891-1898

← 1 2 →