Indolent renal involvement with BRAFV600E mutation: Erdheim-Chester, a rare disease with a wide spectrum of clinical manifestations

被引：1

作者：

Vanhomwegen, Charlotte ^{[1
]}

Mestrez, Fabienne ^{[2
]}

Faverly, Daniel ^{[3
]}

Holz, Serge ^{[4
]}

Taylor, Stephen ^{[5
]}

Rossi, Camelia ^{[6
]}

机构：

[1] Univ Libre Bruxelles, CHU Erasme Hosp, Internal Med, Brussels, Belgium

[2] Univ Libre Bruxelles, Nephrol Dept, Ambroise Pare Hosp, Brussels, Belgium

[3] Univ Libre Bruxelles, Pathol Dept, Ambroise Pare Hosp, Brussels, Belgium

[4] Univ Libre Bruxelles, Urol Dept, Ambroise Pare Hosp, Brussels, Belgium

[5] Univ Libre Bruxelles, Radiol Unit, Ambroise Pare Hosp, Brussels, Belgium

[6] Univ Libre Bruxelles, Infect Dis Dept, Ambroise Pare Hosp, Brussels, Belgium

来源：

CLINICAL CASE REPORTS | 2021年 / 9卷 / 08期

关键词：

BRAF(V600E); Erdheim-Chester disease; histiocytosis; retroperitoneum; review; MANAGEMENT; DIAGNOSIS;

D O I：

10.1002/ccr3.4683

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We present the case of a patient with three-year indolent bilateral ureteral and perirenal masses. Clinical presentation, radiological context, and histopathological findings with detection of BRAF(V600E) mutation confirmed the diagnosis of Erdheim-Chester disease (ECD). A review of current knowledge regarding diagnosis, clinical assessment, management, and treatment of ECD is also presented.

引用

页数：6

共 50 条

[1] Encorafenib for Erdheim-Chester disease harboring the BRAFV600E mutation
Wada, Fumiya
[J]. ANNALS OF ONCOLOGY, 2021, 32 : S359 - S359
[2] Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAFV600E mutation
Nikpanah, Moozhan
Firouzabadi, Fatemeh Dehghani
Farhadi, Faraz
Mirmomen, S. Mojdeh
Ahlman, Mark A.
Huda, Fahimul
Millo, Corina
Saboury, Babak
Paschall, Anna K.
Gahl, William A.
Turkbey, Evrim
Jones, Elizabeth C.
O'Brien, Kevin
Malayeri, Ashkan A.
[J]. CLINICAL IMAGING, 2024, 106
[3] Significant response to dabrafenib in a patient with Erdheim-Chester disease with BRAFV600E mutation
Verschelden, Gil
Van Laethem, Johan
Velkeniers, Brigitte
Ilsen, Bart
Noeparast, Amir
De Greve, Jacques
[J]. POLISH ARCHIVES OF INTERNAL MEDICINE-POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ, 2018, 128 (06): : 386 - 388
[4] Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAFV600E mutation
S. Mojdeh Mirmomen
Arlene Sirajuddin
Moozhan Nikpanah
Rolf Symons
Anna K. Paschall
Ioannis Papageorgiou
William A. Gahl
Kevin O’Brien
Juvianee I. Estrada-Veras
Ashkan A. Malayeri
[J]. European Radiology, 2018, 28 : 4635 - 4642
[5] Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAFV600E mutation
Mirmomen, S. Mojdeh
Sirajuddin, Arlene
Nikpanah, Moozhan
Symons, Rolf
Paschall, Anna K.
Papageorgiou, Ioannis
Gahl, William A.
O'Brien, Kevin
Estrada-Veras, Juvianee I.
Malayeri, Ashkan A.
[J]. EUROPEAN RADIOLOGY, 2018, 28 (11) : 4635 - 4642
[6] Dramatic response to encorafenib in a patient with Erdheim-Chester disease harboring the BRAFV600E mutation
Wada, Fumiya
Hiramoto, Nobuhiro
Yamashita, Daisuke
Hara, Shigeo
Furukawa, Yutaka
Ishii, Junko
Nagata, Kazuma
Nannya, Yasuhito
Ogawa, Seishi
Ishikawa, Takayuki
[J]. AMERICAN JOURNAL OF HEMATOLOGY, 2021, 96 (08) : E295 - E298
[7] Hypoalphalipoproteinemia and BRAFV600E Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester Disease
Cohen-Aubart, Fleur
Guerin, Maryse
Poupel, Lucie
Cluzel, Philippe
Saint-Charles, Flora
Charlotte, Frederic
Arsafi, Youssef
Emile, Jean-Francois
Frisdal, Eric
Le Goff, Carine
Donadieu, Jean
Amoura, Zahir
Lesnik, Philippe
Haroche, Julien
Le Goff, Wilfried
[J]. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2018, 38 (08) : 1913 - 1925
[8] A cytologic diagnosis of BRAFV600E Erdheim-Chester disease on pericardial fluid
Chasseur, P.
Kyriakopoulou, M.
Vokaer, B.
Beukinga, I.
Arroyo, R. Casado
Cogan, E.
Couturier, B.
[J]. ACTA CLINICA BELGICA, 2017, 72 (05) : 369 - 371
[9] Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAFV600E mutation
Moozhan Nikpanah
Lauren Kim
S. Mojdeh Mirmomen
Rolf Symons
Ioannis Papageorgiou
William A. Gahl
Kevin O’Brien
Juvianee I. Estrada-Veras
Ashkan A. Malayeri
[J]. European Radiology, 2018, 28 : 3751 - 3759
[10] Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation
Hervier, Baptiste
Haroche, Julien
Arnaud, Laurent
Charlotte, Frederic
Donadieu, Jean
Neel, Antoine
Lifermann, Francois
Villabona, Carles
Graffin, Bruno
Hermine, Olivier
Rigolet, Aude
Roubille, Camille
Hachulla, Eric
Carmoi, Thierry
Bezier, Maud
Meignin, Veronique
Conrad, Marie
Marie, Laurence
Kostrzewa, Elise
Michot, Jean-Marie
Barete, Stephane
Taly, Valerie
Cury, Karine
Emile, Jean-Francois
Amoura, Zahir
[J]. BLOOD, 2014, 124 (07) : 1119 - 1126

← 1 2 3 4 5 →