Publications:

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Solitary hyoid plasmacytoma with unicentric Castleman disease: A case report and review of literature.

World Journal Of Clinical Cases

Zhang, Yan-Hui YH; He, Yi-Feng YF; Yue, Hao H; Zhang, Yue-Ni YN; Shi, Lei L; Jin, Bin B; Dong, Pin P

Publication Date: 2022-12-26

Variant appearance in text: PDGFRB: 1997A>G; N666S

PubMed Link: 36683640

Variant Present in the following documents:

• WJCC-10-13364.pdf

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Idiopathic multicentric Castleman disease and associated autoimmune and autoinflammatory conditions: practical guidance for diagnosis.

Rheumatology (Oxford, England)

González García, Andrés A; Fernández-Martín, Julián J; Robles Marhuenda, Ángel Á

Publication Date: 2022-08-23

Variant appearance in text: PDGFRB: N666S

PubMed Link: 35997567

Variant Present in the following documents:

• Main text
• keac481.pdf

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Penttinen syndrome-associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling.

Journal Of Cellular And Molecular Medicine

Nédélec, Audrey A; Guérit, Emilie M EM; Dachy, Guillaume G; Lenglez, Sandrine S; Wong, Lok San LS; Arts, Florence A FA; Demoulin, Jean-Baptiste JB

Publication Date: 2022-07

Variant appearance in text: PDGFRB: N666S

PubMed Link: 35689379

Variant Present in the following documents:

• Main text
• JCMM-26-3902.pdf

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Case Report: Castleman Disease With an Associated Stromal Spindle Cell Proliferation, PDGFRB Mutation and p53 Expression: Clonal Origins of a Rare Disease.

Frontiers In Oncology

Singh, Kunwar I KI; Gollapudi, Sumanth S; Kumar, Jyoti J; Butzmann, Alexandra A; Small, Corinn C; Kreimer, Sara S; Saglam, Emine Arzu EA; Warnke, Roger R; Silva, Oscar O; Ohgami, Robert S RS

Publication Date: 2022

Variant appearance in text: PDGFRB: 1997A>G; Asn666Ser

PubMed Link: 35494027

Variant Present in the following documents:

• Main text
• fonc-12-857606.pdf

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A Cytological Review of Follicular Dendritic Cell-Derived Tumors with Emphasis on Follicular Dendritic Cell Sarcoma and Unicentric Castleman Disease.

Diagnostics (Basel, Switzerland)

Jiménez-Heffernan, José A JA; Díaz Del Arco, Cristina C; Adrados, Magdalena M

Publication Date: 2022-02-04

Variant appearance in text: PDGFRB: N666S

PubMed Link: 35204497

Variant Present in the following documents:

• Main text
• diagnostics-12-00406.pdf

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Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds.

Journal Of The American Heart Association

Parada, Carolina A CA; El-Ghazali, Fatima M FM; Toglia, Daphne D; Ruzevick, Jacob J; McAvoy, Malia M; Emerson, Samuel S; Karasozen, Yigit Y; Busald, Tina T; Nazem, Ahmad A AA; Suranowitz, Shaun M SM; Shalhub, Sherene S; Marshall, Desiree A DA; Gonzalez-Cuyar, Luis F LF; Dorschner, Michael O MO; Ferreira, Manuel M

Publication Date: 2022-02-15

Variant appearance in text: PDGFRB: Asn666Ser

PubMed Link: 35156398

Variant Present in the following documents:

• Main text
• JAH3-11-e024289.pdf

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Follicular dendritic cell sarcoma.

Pathologica

Facchetti, Fabio F; Simbeni, Matteo M; Lorenzi, Luisa L

Publication Date: 2021-10

Variant appearance in text: PDGFRB: N666S

PubMed Link: 34837090

Variant Present in the following documents:

• Main text

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Clinical and Pathological Characteristics of Hyaline-Vascular Type Unicentric Castleman Disease: A 20-Year Retrospective Analysis.

Diagnostics (Basel, Switzerland)

Nishimura, Midori Filiz MF; Nishimura, Yoshito Y; Nishikori, Asami A; Maekawa, Yukina Y; Maehama, Kanna K; Yoshino, Tadashi T; Sato, Yasuharu Y

Publication Date: 2021-10-28

Variant appearance in text: PDGFRB: N666S

PubMed Link: 34829355

Variant Present in the following documents:

• Main text
• diagnostics-11-02008.pdf

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: PDGFRB: N666S

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

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Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.

The Oncologist

Massoth, Lucas R LR; Hung, Yin P YP; Ferry, Judith A JA; Hasserjian, Robert P RP; Nardi, Valentina V; Nielsen, G Petur GP; Sadigh, Sam S; Venkataraman, Vinayak V; Selig, Martin M; Friedmann, Alison M AM; Samore, Wesley W; Killian, Jonathan Keith JK; Milante, Riza R; Giessinger, Joseph J; Foley-Peres, Kathleen K; Marcus, Chelsea C; Severson, Eric E; Duncan, Daniel D; Sivakumar, Smruthy S; Ross, Jeffrey S JS; Desphande, Vikram V; Ramkissoon, Shakti H SH; Vergilio, Jo-Anne JA; Louissaint, Abner A; Zukerberg, Lawrence R LR; Williams, Erik A EA

Publication Date: 2021-07

Variant appearance in text: PDGFRB: N666S

PubMed Link: 33904632

Variant Present in the following documents:

• Main text

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Novel COL4A1-VEGFD gene fusion in myofibroma.

Journal Of Cellular And Molecular Medicine

Dachy, Guillaume G; Fraitag, Sylvie S; Boulouadnine, Boutaina B; Cordi, Sabine S; Demoulin, Jean-Baptiste JB

Publication Date: 2021-05

Variant appearance in text: PDGFRB: N666S

PubMed Link: 33830670

Variant Present in the following documents:

• Main text

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A Review of Genetic Abnormalities in Unicentric and Multicentric Castleman Disease.

Biology

Butzmann, Alexandra A; Kumar, Jyoti J; Sridhar, Kaushik K; Gollapudi, Sumanth S; Ohgami, Robert S RS

Publication Date: 2021-03-24

Variant appearance in text: PDGFRB: N666S

PubMed Link: 33804823

Variant Present in the following documents:

• Main text
• biology-10-00251-s001.pdf
• biology-10-00251.pdf

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The EBF1-PDGFRB T681I mutation is highly resistant to imatinib and dasatinib in vitro and detectable in clinical samples prior to treatment.

Haematologica

Tran, Thai Hoa TH; Nguyen, Jonathan V JV; Stecula, Adrian A; Akutagawa, Jon J; Moorman, Anthony V AV; Braun, Benjamin S BS; Sali, Andrej A; Mullighan, Charles G CG; Shah, Neil P NP; Dai, Yunfeng Y; Devidas, Meenakshi M; Roberts, Kathryn G KG; Smith, Catherine C CC; Loh, Mignon L ML

Publication Date: 2021-08-01

Variant appearance in text: PDGFRB: N666S

PubMed Link: 33626861

Variant Present in the following documents:

• Main text
• 1062242.pdf

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Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.

Human Molecular Genetics

Bredrup, Cecilie C; Cristea, Ileana I; Safieh, Leen Abu LA; Di Maria, Emilio E; Gjertsen, Bjørn Tore BT; Tveit, Kåre Steinar KS; Thu, Frode F; Bull, Nils N; Edward, Deepak P DP; Hennekam, Raoul C M RCM; Høvding, Gunnar G; Haugen, Olav H OH; Houge, Gunnar G; Rødahl, Eyvind E; Bruland, Ove O

Publication Date: 2021-03-25

Variant appearance in text: PDGFRB: 1997A>G; Asn666Ser

PubMed Link: 33450762

Variant Present in the following documents:

• Main text
• supplemental_tables_and_figures_revision_ddab014.pdf
• ddab014.pdf

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: PDGFRB: 1997A>G; N666S

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis.

Jama Dermatology

Dachy, Guillaume G; de Krijger, Ronald R RR; Fraitag, Sylvie S; Théate, Ivan I; Brichard, Bénédicte B; Hoffman, Suma B SB; Libbrecht, Louis L; Arts, Florence A FA; Brouillard, Pascal P; Vikkula, Miikka M; Limaye, Nisha N; Demoulin, Jean-Baptiste JB

Publication Date: 2019-08-01

Variant appearance in text: PDGFRB: N666S

PubMed Link: 31017643

Variant Present in the following documents:

• Main text

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Recurrent PDGFRB mutations in unicentric Castleman disease.

Leukemia

Li, Zhaoming Z; Lan, Xuan X; Li, Chaoping C; Zhang, Yanjie Y; Wang, Yingjun Y; Xue, Weili W; Lu, Lisha L; Jin, Mengyuan M; Zhou, Zhiyuan Z; Wang, Xinhua X; Li, Ling L; Zhang, Lei L; Li, Xin X; Fu, Xiaorui X; Sun, Zhenchang Z; Wu, Jingjing J; Zhang, Xudong X; Yu, Hui H; Nan, Feifei F; Chang, Yu Y; Yan, Jiaqin J; Wu, Xiaolong X; Wang, Guannan G; Zhang, Dandan D; Zhang, Yuan Y; Young, Ken H KH; Zhang, Mingzhi M

Publication Date: 2019-04

Variant appearance in text: PDGFRB: 1997A>G; Asn666ser

PubMed Link: 30607019

Variant Present in the following documents:

• Main text
• 41375_2018_323_MOESM5_ESM.xls, sheet 2
• 41375_2018_Article_323.pdf

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A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.

European Journal Of Human Genetics : Ejhg

Bredrup, Cecilie C; Stokowy, Tomasz T; McGaughran, Julie J; Lee, Samuel S; Sapkota, Dipak D; Cristea, Ileana I; Xu, Linda L; Tveit, Kåre Steinar KS; Høvding, Gunnar G; Steen, Vidar Martin VM; Rødahl, Eyvind E; Bruland, Ove O; Houge, Gunnar G

Publication Date: 2019-04

Variant appearance in text: PDGFRB: 1997A>G

PubMed Link: 30573803

Variant Present in the following documents:

• Main text

View BVdb publication page

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