![](http://media.springernature.com/m312/springer-static/image/art%3A10.1007%2Fs00277-021-04430-1/MediaObjects/277_2021_4430_Fig1_HTML.png)
References
Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG (1999) Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 23:166–175
Sakurai M, Kasahara H, Yoshida K, Yoshimi A, Kunimoto H, Watanabe N, Shiraishi Y, Chiba K, Tanaka H, Harada Y, Harada H, Kawakita T, Kurokawa M, Miyano S, Takahashi S, Ogawa S, Okamoto S, Nakajima H (2016) Genetic basis of myeloid transformation in familial platelet disorder/acute myeloid leukemia patients with haploinsufficient RUNX1 allele. Blood Cancer J 6:e392
Godley LA (2014) Inherited predisposition to acute myeloid leukemia. Semin Hematol 51:306–321
Cheng CK, Wong THY, Yung YL, Chan NCN, Ng MHL (2019) Investigation of the transcriptional role of a RUNX1 intronic silencer by CRISPR/Cas9 ribonucleoprotein in acute myeloid leukemia cells. J Vis Exp 151
Sakurai M, Kunimoto H, Watanabe N, Fukuchi Y, Yuasa S, Yamazaki S, Nishimura T, Sadahira K, Fukuda K, Okano H, Nakauchi H, Morita Y, Matsumura I, Kudo K, Ito E, Ebihara Y, Tsuji K, Harada Y, Harada H, Okamoto S, Nakajima H (2014) Impaired hematopoietic differentiation of RUNX1-mutated induced pluripotent stem cells derived from FPD/AML patients. Leukemia 28:2344–2354
Kanagal-Shamanna R, Loghavi S, DiNardo CD et al (2017) Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation. Haematologica 102:1661–1670
Yoshizato T, Nannya Y, Atsuta Y, Shiozawa Y, Iijima-Yamashita Y, Yoshida K, Shiraishi Y, Suzuki H, Nagata Y, Sato Y, Kakiuchi N, Matsuo K, Onizuka M, Kataoka K, Chiba K, Tanaka H, Ueno H, Nakagawa MM, Przychodzen B, Haferlach C, Kern W, Aoki K, Itonaga H, Kanda Y, Sekeres MA, Maciejewski JP, Haferlach T, Miyazaki Y, Horibe K, Sanada M, Miyano S, Makishima H, Ogawa S (2017) Genetic abnormalities in myelodysplasia and secondary acute myeloid leukemia: impact on outcome of stem cell transplantation. Blood 129:2347–2358
Acknowledgements
The authors would like to thank Dr. Takayuki Mitsuhashi for interpreting the findings in bone marrow specimens.
Funding
This work was supported by a JSPS KAKENHI Grant-in-Aid for Scientific Research (JP20K17407 to M.S.), by the Japan Agency for Medical Research and Development (AMED) (JP19cm0106501, JP16ck0106073, JP19ck0106250 to S.O., JP18ck0106353 to Y.N.), and by Nippon Shinyaku Research Grant (M.S.).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Ethical approval and consent to participate
This study was approved by the Ethics Committees of Keio University School of Medicine (Tokyo, Japan) and Kyoto University (Kyoto, Japan) and conformed to the principles outlined in the Declaration of Helsinki for the use of human tissue or subjects. Informed consent was obtained from the patient.
Conflict of interest
The authors declare no conflict of interest.
Additional information
Publisher’s note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Sakurai, M., Nannya, Y., Yamazaki, R. et al. Germline RUNX1 translocation in familial platelet disorder with propensity to myeloid malignancies. Ann Hematol 101, 237–239 (2022). https://doi.org/10.1007/s00277-021-04430-1
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00277-021-04430-1