Data availability
The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.
References
Shomali W, Colucci P, George TI, Kiladjian JJ, Langford C, Patel JL, Reiter A, Vannucchi AM, Gotlib J (2023) Comprehensive response criteria for myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions: a proposal from the MLN International Working Group. Leukemia 37(5):981–987. https://doi.org/10.1038/s41375-023-01859-3
Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW (2016) The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 127(20):2391–2405. https://doi.org/10.1182/blood-2016-03-643544
Yu J, Canalis E (2020) Notch and the regulation of osteoclast differentiation and function. Bone 138:115474. https://doi.org/10.1016/j.bone.2020.115474
Kurotaki D, Yoshida H, Tamura T (2020) Epigenetic and transcriptional regulation of osteoclast differentiation. Bone 138:115471. https://doi.org/10.1016/j.bone.2020.115471
McGregor AK, Greystoke B, Wood K, Bedwell C, Oakes R (2016) Pathological fracture due to lytic lesion caused by a myeloid neoplasm with FIP1L1-PDGFRA. Br J Haematol 174(5):660. https://doi.org/10.1111/bjh.14203
Vandenberghe P, Wlodarska I, Michaux L, Zachee P, Boogaerts M, Vanstraelen D, Herregods MC, Van Hoof A, Selleslag D, Roufosse F, Maerevoet M, Verhoef G, Cools J, Gilliland DG, Hagemeijer A, Marynen P (2004) Clinical and molecular features of FIP1L1-PDFGRA (+) chronic eosinophilic leukemias. Leukemia 18(4):734–742. https://doi.org/10.1038/sj.leu.2403313
Metzgeroth G, Walz C, Score J, Siebert R, Schnittger S, Haferlach C, Popp H, Haferlach T, Erben P, Mix J, Muller MC, Beneke H, Muller L, Del Valle F, Aulitzky WE, Wittkowsky G, Schmitz N, Schulte C, Muller-Hermelink K et al (2007) Recurrent finding of the FIP1L1-PDGFRA fusion gene in eosinophilia-associated acute myeloid leukemia and lymphoblastic T-cell lymphoma. Leukemia 21(6):1183–1188. https://doi.org/10.1038/sj.leu.2404662
Soung do Y, Kalinowski J, Baniwal SK, Jacome-Galarza CE, Frenkel B, Lorenzo J, Drissi H (2014) Runx1-mediated regulation of osteoclast differentiation and function. Mol Endocrinol 28 (4):546-553. https://doi.org/10.1210/me.2013-1305
Paglia DN, Yang X, Kalinowski J, Jastrzebski S, Drissi H, Lorenzo J (2016) Runx1 regulates myeloid precursor differentiation into osteoclasts without affecting differentiation into antigen presenting or phagocytic cells in both males and females. Endocrinology 157(8):3058–3069. https://doi.org/10.1210/en.2015-2037
McDonald MM, Kim AS, Mulholland BS, Rauner M (2021) New insights into osteoclast biology. JBMR Plus 5(9):e10539. https://doi.org/10.1002/jbm4.10539
Acknowledgements
We thank all members of the Zhejiang Key Laboratory of Diagnosis and Treatment for Hematologic Malignancies for providing supports for diagnosis. We also thank Prof. Dijiong Wu from The First Affiliated Hospital of Zhejiang Chinese Medical University for helping us finishing follow-up of this patient. The targeted-exome-sequencing was supported by Acornmed Company (Beijing, China), and the RNA-sequencing was supported by Annoroad Company (Beijing, China).
Funding
This study was funded by the Natural Science Foundation of Zhejiang Province (LY21H080003) and the National Natural Science Foundation of China (81800199).
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XZ designed the research. SS, JW, JJ, XZ, and WY managed this patient. SZ, XZ, and WY collected the data. YL, XY, QL, and XZ processed the data. YL and XZ wrote the manuscript. XG, HT, JJ, and WY provided advice for our study. All authors approved the manuscript.
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This study was approved by the ethical review committees of the First Affiliated Hospital to Zhejiang University School of Medicine (IIT20220659A). All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.
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Informed consent was obtained from all individual participants included in the study.
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ESM 1
Figure S1. Additional markers for immunohistochemistry of bone marrow tissue. (TIF 7567 kb)
ESM 2
Figure S2. GO and KEGG analysis for up-regulated genes in PD vs. CR samples. (A-D) GO biological process (A), GO molecular function (B), GO cellular component (C) and KEGG pathway (D) were enriched for up-regulated genes. (TIF 12092 kb)
ESM 3
Figure S3. GO and KEGG analysis for down-regulated genes in PD vs. CR samples. (A-D) GO biological process (A), GO molecular function (B), GO cellular component (C) and KEGG pathway (D) were enriched for down-regulated genes. (TIF 12312 kb)
ESM 4
Table S1. Gene fusions in PD sample. (PDF 94 kb)
ESM 5
Table S2. Gene fusions in CR sample. (PDF 77 kb)
ESM 6
Table S3. FPKM of PD and CR samples. (PDF 2993 kb)
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Lv, Y., Yao, X., Ling, Q. et al. Osteolytic lesion as initial presentation in FIP1L1-PDGFRA-rearranged myeloid/lymphoid neoplasm with eosinophilia: a case report. Ann Hematol 103, 357–360 (2024). https://doi.org/10.1007/s00277-023-05485-y
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DOI: https://doi.org/10.1007/s00277-023-05485-y