A case of juvenile-onset pheochromocytoma with <i>KIF1B</i> p.V1529M germline mutation-Reference-Cited by-同舟云学术

A case of juvenile-onset pheochromocytoma with <i>KIF1B</i> p.V1529M germline mutation

Published:2022 Issue:6 Volume:69 Page:705-716
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Nezu Masahiro¹,Hirotsu Yosuke²,Amemiya Kenji²,Katsumata Miho¹,Watanabe Tomomi¹,Takizawa Soichi¹,Inoue Masaharu¹,Mochizuki Hitoshi²,Hosaka Kyoko³,Oyama Toshio⁴,Omata Masao²

Affiliation:

1. Department of Endocrinology and Diabetes, Yamanashi Central Hospital, Kofu 400-8506, Japan

2. Genome Analysis Center, Yamanashi Central Hospital, Kofu 400-8506, Japan

3. Department of Urology, Yamanashi Central Hospital, Kofu 400-8506, Japan

4. Department of Pathology, Yamanashi Central Hospital, Kofu 400-8506, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/69/6/69_EJ21-0475/_pdf

Reference31 articles.

1. 1 Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, et al. (2014) Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. J Clin Endocrinol Metab 99: 1915–1942.

2. 2 Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, et al. (2012) A decade (2001–2010) of genetic testing for pheochromocytoma and paraganglioma. Horm Metab Res 44: 359–366.

3. 3 Mannelli M, Castellano M, Schiavi F, Filetti S, Giacche M, et al. (2009) Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. J Clin Endocrinol Metab 94: 1541–1547.

4. 4 Fishbein L, Leshchiner I, Walter V, Danilova L, Robertson AG, et al. (2017) Comprehensive molecular characterization of pheochromocytoma and paraganglioma. Cancer Cell 31: 181–193.

5. 5 Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, et al. (2006) Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 91: 827–836.

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Motor proteins, spermatogenesis and testis function;Advances in Protein Chemistry and Structural Biology;2024

2. Case Report: A 65-year-old man with paraganglioma accompanied by elevated interleukin-6 levels and KIF1B single gene mutation;Frontiers in Endocrinology;2023-09-14

3. Case Report: Aggressive neural crest tumors in a child with familial von Hippel Lindau syndrome associated with a germline VHL mutation (c.414A>G) and a novel KIF1B gene mutation;Frontiers in Endocrinology;2023-07-25

4. Paraganglioma with High Levels of Dopamine, Dopa Decarboxylase Suppression, Dopamine β-hydroxylase Upregulation and Intra-tumoral Melanin Accumulation: A Case Report with a Literature Review;Internal Medicine;2023