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J-GLOBAL ID：201802256277058784   Reference number：18A1815242

A case of primary familial congenital polycythemia with a novel EPOR mutation: possible spontaneous remission/alleviation by menstrual bleeding

新規EPOR突然変異を有する原発性家族性先天性赤血球増加症の1例:月経出血による自発的寛解/緩和

Author (10)： TORIUMI Naohisa (Asahikawa Medical Univ., Asahikawa, JPN) ,  KANEDA Makoto (Sapporo Tokushukai Hospital, Sapporo, JPN) ,  HATAKEYAMA Naoki (Asahikawa Medical Univ., Asahikawa, JPN) ,  MANABE Hiromi (Asahikawa Kousei Hospital, Asahikawa, JPN) ,  OKAJIMA Kazuki (Asahikawa Medical Univ., Asahikawa, JPN) ,  SAKURAI Yukari (Asahikawa Medical Univ., Asahikawa, JPN) ,  YAMAMOTO Masayo (Asahikawa Medical Univ., Asahikawa, JPN) ,  SARASHINA Takeo (Asahikawa Medical Univ., Asahikawa, JPN) ,  IKUTA Katsuya (Asahikawa Medical Univ., Asahikawa, JPN) ,  AZUMA Hiroshi (Asahikawa Medical Univ., Asahikawa, JPN)
Material： International Journal of Hematology  (Int J Hematol)
Volume： 108  Issue： 3  Page： 339-343  Publication year： Sep. 2018 
JST Material Number： F0888A  ISSN： 0925-5710  CODEN： IJHEEY  Document type： Article
Article type： 短報  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *EPOR遺伝子 ,...

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JST classification (3)： Hematologic diseases  (GK03000F) ,  Molecular genetics in general  (EC02010J) ,  Reproductive physiology in general  (EJ15010E)

Reference (10)：

• Bento C, Percy MJ, Gardie B, Maia TM, Van Wijk R, Perrotta S, et al. Genetic basis of congenital erythrocytosis: mutation of update and online databases. Hum Mutat. 2014;35:15-26.
• Peroni E, Bertozzi I, Gherlinzoni F, Stefani PM, Lombardi A, Biagetti G, et al. Two novel missense mutation in EPOR gene causes erythrocytosis in two unrelated patients. Br. J. Haematol. 2016. https://doi.org/10.1111/bjh.14486b.
• Pasquier F, Marth C, Verdier F, Grosjean S, Prehu C, Constantinescu SN, et al. New insight into mechanisms of erythropoietin receptor mutations in primary familial and congenital polycythemia. Blood. 2016;128:631.
• Arcasoy MO, Karayal AF, Segal HM, Sinning JG, Forget BG. A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. Blood. 2002;99:3066-9.
• Sokol L, Luhovy M, Prchal JF, Semenza GL, Prchal JT. Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. Blood. 1995;86:15-22.

Terms in the title (8)： 突然変異 ,  原発 ,  家族 ,  赤血球増加症 ,  月経 ,  出血 ,  寛解 ,  緩和