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. 2025 Mar;39(3):760-764.
doi: 10.1038/s41375-024-02494-2. Epub 2024 Dec 23.

Genetic analysis of myeloid neoplasms with der(1;7)(q10;p10)

Rurika Okuda  1 , Yotaro Ochi  2 , Ryunosuke Saiki  1 , Toshiyuki Yamanaka  1 , Chikashi Terao  3   4   5 , Tetsuichi Yoshizato  1 , Masahiro M Nakagawa  1 , Lanying Zhao  1 , Kazuma Ohyashiki  6 , Nobuhiro Hiramoto  7 , Masashi Sanada  1   8 , Hiroshi Handa  9 , Senji Kasahara  10 , Yasushi Miyazaki  11 , Nobuo Sezaki  12 , Lee-Yung Shih  13 , Wolfgang Kern  14 , Nobuhiro Kanemura  15 , Toshiyuki Kitano  16 , Shinsaku Imashuku  17 , Mitsumasa Watanabe  18 , Maria Creignou  19   20 , Kazuhisa Chonabayashi  21   22 , Kensuke Usuki  23 , Takayuki Ishikawa  7 , Akihiko Gotoh  6 , Yoshiko Atsuta  24   25 , Yuichi Shiraishi  26 , Kinuko Mitani  27 , Shigeru Chiba  28 , Akifumi Takaori-Kondo  22 , Satoru Miyano  26   29 , Yoichiro Kamatani  30 , Torsten Haferlach  14 , Eva Hellström-Lindberg  19   31 , Koichi Matsuda  30 , Yoshinori Yoshida  21 , Hideki Makishima  1 , Yasuhito Nannya  1 , Seishi Ogawa  32   33
Affiliations

Genetic analysis of myeloid neoplasms with der(1;7)(q10;p10)

Rurika Okuda et al. Leukemia. 2025 Mar.
No abstract available

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Conflict of interest statement

Competing interests: The authors declare no competing interests. Ethics approval and consent to participate: The authors confirm that this study was approved by the institutional ethics committees of Kyoto University and participating institutions (G608) and was performed in accordance with the Declaration of Helsinki. Written informed consent was obtained from each participant.

Figures

Fig. 1
Fig. 1. Genetic characteristics of der(1;7)(q10;p10)(+) myeloid neoplasms.
A Landscape of gene mutations and copy number alterations (CNAs) in 148 der(1;7) (q10;p10)(+) myeloid neoplasm cases identified through targeted-capture sequencing. Number of genetic mutations per case shown as bar plots at top. Genetic mutation type and disease depicted as colors. Frequency of each mutation (>1%) and number of patients with the mutation are shown in left and right, respectively. Rows are ordered by functional categories of affected genes. B Frequency bar plot of targeted-sequencing gene mutation and CNA for der(1;7) (q10;p10)(+) vs. −7/del(7q) vs. +1q vs. others. Type of mutation depicted by differing colors. False discovery rate (q-values) shown by asterisks (*). Transcription factor genes in red. C Bar graph showing the frequency of the number of transcription factor mutations per case for each group (P-values calculated by Fisher’s Exact test). UPD uniparental disomy, TF transcription factor.
Fig. 2
Fig. 2. Characteristic mutations in der(1;7)(q10;p10)(+) myeloid neoplasms.
A Lollipop plot of MYB and ETNK1 gene mutations in der(1;7)(q10;p10) cases. Domains for each gene and type of mutations are depicted. B Frequency of MYB (left) and ETNK1 mutations (right) in AML, MDS, MDS/MPN and MPN for der(1;7)(q10;p10)(+) and non-der(1;7)(q10;p10) cases. C Presence of indicated mutations according to ETNK1 mutation status. RAS/RTK genes: FLT3, JAK2, MPL, CALR, CSF3R, PTPN11, NF1, NRAS, KRAS, and CBL. D Boxplot of MDM4 gene expression (left) and expression level of p53 pathway genes (right) for each group. The median and 1st and 3rd quartiles are indicated, and whiskers extend to the furthest value within 1.5× the interquartile range. P-values calculated by Wilcoxon test. *P < 0.05, **P < 0.01.
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