Molecular imaging phenotyping of germline fumarate hydratase (FH) pathogenic variant-positive metastatic pheochromocytoma

被引：2

作者：

Imperiale, Alessio ^{[1
,2
]}

Pepponi, Miriam ^{[1
,3
]}

Poterszman, Nathan ^{[1
]}

Jha, Abhishek ^{[4
]}

Collen, Cedric ^{[5
]}

Brumaru, Daniel ^{[6
]}

Chenard, Marie-Pierre ^{[7
]}

Taieb, David ^{[8
]}

Pacak, Karel ^{[4
]}

Goichot, Bernard ^{[5
]}

机构：

[1] Strasbourg Univ, Med Nucl & Imagerie Mol, ICANS, 17 Rue Albert Calmette, F-67093 Strasbourg, France

[2] Unistra, IPHC, Mol Imaging DRHIM, UMR 7178,CNRS, Strasbourg, France

[3] Univ Florence, Careggi Univ Hosp, Nucl Med, Florence, Italy

[4] Eunice Kennedy Shriver NICHD, NIH, Bethesda, MD USA

[5] Strasbourg Univ, Univ Hosp Strasbourg, Internal Med Diabet & Metab Disorders, Strasbourg, France

[6] Strasbourg Univ, Univ Hosp Strasbourg, Biochem & Mol Biol, Strasbourg, France

[7] Univ Strasbourg, Strasbourg Univ Hosp, Pathol, Strasbourg, France

[8] Aix Marseille Univ, La Timone Univ Hosp, CERIMED, Marseille, France

来源：

EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING | 2023年 / 50卷 / 10期

关键词：

Compendex;

D O I：

10.1007/s00259-023-06261-w

中图分类号：

R8 [特种医学]; R445 [影像诊断学];

学科分类号：

1002 ; 100207 ; 1009 ;

摘要：

Molecular imaging

引用

页码：3155 / 3156

页数：2

共 6 条

[1] Molecular imaging phenotyping of germline fumarate hydratase (FH) pathogenic variant-positive metastatic pheochromocytoma
Alessio Imperiale
Miriam Pepponi
Nathan Poterszman
Abhishek Jha
Cedric Collen
Daniel Brumaru
Marie-Pierre Chenard
David Taïeb
Karel Pacak
Bernard Goichot
European Journal of Nuclear Medicine and Molecular Imaging, 2023, 50 : 3155 - 3156
[2] Clinical and Immunologic Features of Germline Pathogenic Variant-Positive Patients with Melanoma
Shen, Alan
Arbesman, Michelle
Lodha, Roshan
Rayman, Patricia
Bungo, Brandon
Ni, Ying
Chan, Timothy
Gastman, Brian
Ko, Jennifer
Diaz-Montero, C. Marcela
Arbesman, Joshua
Funchain, Pauline
CLINICAL CANCER RESEARCH, 2024, 30 (03) : 564 - 574
[3] Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic
Ouchene, Lydia
Wilde, Blake
Chan-Pak-Choon, Fiona
Camacho Valenzuela, Jose
Brimo, Fadi
Witkowski, Leora
Christofk, Heather
Domecq, Celine
Fu, Lili
Weber, Evan
Lemieux Anglin, Brianna
Netchiporouk, Elena
Foulkes, William D.
GENES CHROMOSOMES & CANCER, 2024, 63 (02):
[4] Clinical and Molecular Characterization of Fumarate Hydratase (FH) germline carriers in Omani families.
Alsaegh, Abeer
Abdulrahim, Reem
Van Wyk, Chantel
Crous, Ilse
Al Kiyumi, Sara
Al Balushi, Amira
Al Malki, Suad
Al Muhairi, Bushra
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1268 - 1268
[5] Whole-Exome Sequencing Revealed a Pathogenic Germline Variant in the Fumarate Hydratase Gene, Leading to the Diagnosis of Hereditary Leiomyomatosis and Renal Cell Cancer
Nagashima, Akari
Morimura, Sohshi
Hamada, Toshihisa
Shiomi, Takayuki
Mori, Ichiro
Sato, Naoko
Nomoto, Junko
Tanaka, Masaki
Tsuji, Shoji
Sugaya, Makoto
DIAGNOSTICS, 2024, 14 (12)
[6] Fumarate-Hydratase Deficient Leiomyoma of the Uterine Corpus: Comparative Morphologic Analysis of Protein-Deficient Tumors with and Without Pathogenic (Germline) FH Gene Mutations and Description of an Institutional Experience
Shi, Wangpan
Liu, Yu
Aisagbonhi, Omonigho
Roma, Andres
Hasteh, Farnaz
Zare, Somaye
Fadare, Oluwole
LABORATORY INVESTIGATION, 2023, 103 (03) : S983 - S984

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