FLCN gene-mutated renal cell neoplasms: Mother and daughter cases with a novel germline mutation

被引：10

作者：

Nagashima, Yoji ^{[1
]}

Furuya, Mitsuko

Gotohda, Hiroko ^{[2
]}

Takagi, Seiji ^{[3
]}

Hes, Ondrej ^{[7
]}

Michal, Michal ^{[7
]}

Grossmann, Petr ^{[7
]}

Tanaka, Reiko ^{[4
]}

Nakatani, Yukio ^{[5
]}

Kuroda, Naoto ^{[6
]}

机构：

[1] Yokohama City Univ, Grad Sch Med, Dept Mol Pathol, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

[2] JA Hokkaido Koseiren Sapporo Kousei Hosp, Div Pathol, Sapporo, Hokkaido, Japan

[3] JA Hokkaido Koseiren Kucchan Kosei Hosp, Div Urol, Kucchan, Japan

[4] Chiba Univ, Med Mycol Res Ctr, Chiba, Japan

[5] Chiba Univ, Grad Sch Med, Dept Diagnost Pathol, Chiba, Japan

[6] Kochi Red Cross Hosp, Div Diagnost Pathol, Kochi, Japan

[7] Charles Univ Hosp, Dept Pathol, Plzen, Czech Republic

来源：

INTERNATIONAL JOURNAL OF UROLOGY | 2012年 / 19卷 / 05期

关键词：

Birt-Hogg-Dube syndrome; chromophobe renal cell carcinoma; FCLN gene; hybrid oncocytic; chromophobe tumor; mutation; oncocytoma; HOGG-DUBE-SYNDROME; ACTIVATION; CARCINOMA; TUMORS;

D O I：

10.1111/j.1442-2042.2011.02945.x

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Birt-Hogg-Dube syndrome is a familial genodermatosis, of which patients frequently develop renal neoplasms, fibrofolliculomas and pneumatocele. Here, we report a mother and daughter with renal neoplasms surgically resected (69 and 46 years-of-age at surgery, respectively). The mother's tumor was diagnosed as an unclassified type renal cell carcinoma associated with microscopic tumorous nodules, whereas the daughter's tumor was a hybrid oncocytic/chromophobe tumor. The germline mutation analysis of the responsible gene, FCLN (the folliculin gene), showed a deletion of 18 bp in exon 5 (c.332_349del/p.H111_Q116del), predicting an alteration of the amino acid sequence of HPSHPQ replaced by a single amino acid, L. This is a novel germline mutation of the FCLN gene that has not been previously reported.

引用

页码：468 / 470

页数：3

共 11 条

[11] Bilateral renal tumors; conventional clear cell carcinoma and contralateral t(6;11)/t(X;17)-like tumor Histomorphologic, immunohistochemical, ultrastructural and molecular genetic studies including the report of a novel mutation in the VHL gene
Petersson, Fredrik
Michal, Michal
Vanecek, Tomas
Hora, Milan
Trivunic, Sandra
Halbhuber, Zbynek
Hes, Ondrej
ANNALS OF DIAGNOSTIC PATHOLOGY, 2011, 15 (05) : 362 - 369

← 1 2 →