伴其他克隆性血液病的系统性肥大细胞增生病一例报道
A Case Report of Systemic Mastocytosis with an Associated Clonal Hematologic Disease
摘要: 系统性肥大细胞增生病是一类罕见的骨髓增殖性肿瘤,部分患者可伴发其他克隆性血液病。本文报道一例48岁男性患者,因皮肤紫癜、乏力、腹胀等症状就诊,经骨髓病理、免疫组化及基因检测明确诊断为伴其他克隆性血液病的系统性肥大细胞增生病,同时合并骨髓增生异常综合征。患者先后接受克拉屈滨、阿扎胞苷、达沙替尼等治疗,病情反复。本文对该病例的临床特点、诊断过程及治疗经过进行总结,并结合文献讨论。
Abstract: Systemic mastocytosis is a rare myeloproliferative neoplasm, and some patients may develop other clonal hematologic diseases. This article reports a 48-year-old male patient who presented with symptoms such as skin purpura, fatigue, and abdominal distension. Through bone marrow pathology, immunohistochemistry, and genetic testing, he was definitively diagnosed with systemic mastocytosis with an associated clonal hematologic disease, accompanied by myelodysplastic syndrome. The patient received sequential treatments including clavulanic acid, azacitidine, and dasatinib, but his condition fluctuated recurrently. This article summarizes the clinical characteristics, diagnostic process, and treatment course of this case, with a literature review.
文章引用:孙鑫雨, 张青, 陶千山. 伴其他克隆性血液病的系统性肥大细胞增生病一例报道[J]. 临床医学进展, 2026, 16(7): 227-233. https://doi.org/10.12677/acm.2026.1672518

参考文献

[1] WHO Classification of Tumours Editorial Board (2022) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 5th Edition, IARC.
[2] Ustun, C., Keklik Karadag, F., Linden, M.A., Valent, P. and Akin, C. (2025) Systemic Mastocytosis: Current Status and Challenges in 2024. Blood Advances, 9, 2048-2062. [Google Scholar] [CrossRef] [PubMed]
[3] Sotlar, K., George, T.I., Kluin, P., Reiter, A., Schwaab, J., Panse, J., et al. (2022) Standards of Pathology in the Diagnosis of Systemic Mastocytosis: Recommendations of the EU-US Cooperative Group. The Journal of Allergy and Clinical Immunology: In Practice, 10, 1986-1998.e2. [Google Scholar] [CrossRef] [PubMed]
[4] Garcia-Montero, A.C., Jara-Acevedo, M., Teodosio, C., et al. (2006) KIT Mutation in Mast Cells and Other Bone Marrow Hematopoietic Cell Lineages in Systemic Mast Cell Disorders: A Prospective Study of the Spanish Network on Mastocytosis (REMA) in a Series of 113 Patients. Blood, 108, 2366-2372. [Google Scholar] [CrossRef] [PubMed]
[5] González-López, O., Muñoz-González, J.I., Orfao, A., Álvarez-Twose, I. and García-Montero, A.C. (2022) Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis. Cancers, 14, Article 2487. [Google Scholar] [CrossRef] [PubMed]
[6] Tremblay, D., Wagner, N. and Mascarenhas, J. (2024) Management of Advanced Systemic Mastocytosis: Clinical Challenges. Journal of Blood Medicine, 15, 421-433. [Google Scholar] [CrossRef] [PubMed]
[7] National Institute for Health and Care Excellence (2024) Avapritinib for Treating Advanced Systemic Mastocytosis. NICE Technology Appraisal Guidance TA1012.
[8] McLornan, D.P., Czerw, T., Damaj, G., Ethell, M., Gurnari, C., Hernández-Boluda, J.C., et al. (2024) Allogeneic Haematopoietic Cell Transplantation for Advanced Systemic Mastocytosis: Best Practice Recommendations on Behalf of the EBMT Practice Harmonisation and Guidelines Committee. Leukemia, 38, 699-711. [Google Scholar] [CrossRef] [PubMed]
[9] 中华医学会血液学分会实验诊断学组, 中国肥大细胞增多症协作网络. 成人系统性肥大细胞增多症诊断与治疗中国指南(2022年版) [J]. 中华血液学杂志, 2022, 43(12): 969-978.
[10] Radia, D.H. (2025) How I Diagnose and Treat Systemic Mastocytosis with an Associated Hematologic Neoplasm. Blood, 145, 1747-1757. [Google Scholar] [CrossRef] [PubMed]
[11] Watkins, A.J., Hamoudi, R.A., Zeng, N., Yan, Q., Huang, Y., Liu, H., et al. (2012) An Integrated Genomic and Expression Analysis of 7q Deletion in Splenic Marginal Zone Lymphoma. PLOS ONE, 7, e44997. [Google Scholar] [CrossRef] [PubMed]
[12] Barazeghi, E., Hellman, P., Westin, G. and Stålberg, P. (2019) PTPRM, a Candidate Tumor Suppressor Gene in Small Intestinal Neuroendocrine Tumors. Endocrine Connections, 8, 1126-1135. [Google Scholar] [CrossRef] [PubMed]
[13] Haferlach, T., Nagata, Y., Grossmann, V., Okuno, Y., Bacher, U., Nagae, G., et al. (2014) Landscape of Genetic Lesions in 944 Patients with Myelodysplastic Syndromes. Leukemia, 28, 241-247. [Google Scholar] [CrossRef] [PubMed]
[14] Abdel-Wahab, O., Adli, M., LaFave, L.M., Gao, J., Hricik, T., Shih, A.H., et al. (2012) ASXL1 Mutations Promote Myeloid Transformation through Loss of PRC2-Mediated Gene Repression. Cancer Cell, 22, 180-193. [Google Scholar] [CrossRef] [PubMed]
[15] Moran-Crusio, K., Reavie, L., Shih, A., Abdel-Wahab, O., Ndiaye-Lobry, D., Lobry, C., et al. (2011) Tet2 Loss Leads to Increased Hematopoietic Stem Cell Self-Renewal and Myeloid Transformation. Cancer Cell, 20, 11-24. [Google Scholar] [CrossRef] [PubMed]
[16] Sanada, M., Suzuki, T., Shih, L., Otsu, M., Kato, M., Yamazaki, S., et al. (2009) Gain-of-Function of Mutated C-CBL Tumour Suppressor in Myeloid Neoplasms. Nature, 460, 904-908. [Google Scholar] [CrossRef] [PubMed]
[17] Garcia‐Manero, G. (2023) Myelodysplastic Syndromes: 2023 Update on Diagnosis, Risk‐Stratification, and Management. American Journal of Hematology, 98, 1307-1325. [Google Scholar] [CrossRef] [PubMed]
[18] Aguirre, L.E., Al Ali, N., Sallman, D.A., Ball, S., Jain, A.G., Chan, O., et al. (2023) Assessment and Validation of the Molecular International Prognostic Scoring System for Myelodysplastic Syndromes. Leukemia, 37, 1530-1539. [Google Scholar] [CrossRef] [PubMed]
[19] Huang, N., Song, Y., Wu, L., He, Q., Zhang, Z., Guo, J., et al. (2025) Validation and Improvement of the Molecular International Prognostic Scoring System in Chinese Patients with Myelodysplastic Syndromes. Annals of Hematology, 104, 193-206. [Google Scholar] [CrossRef] [PubMed]
[20] Heiblig, M., Gourguechon, C., Guilpain, P., Bulai‐Livideanu, C., Barete, S., Chantran, Y., et al. (2024) Comparison of Prognostic Scores according to Who Classification in 170 Patients with Advanced Mastocytosis and C‐Finding Treated with Midostaurin. American Journal of Hematology, 99, 2127-2139. [Google Scholar] [CrossRef] [PubMed]
[21] Reiter, A., Gotlib, J., Álvarez-Twose, I., Radia, D.H., Lübke, J., Bobbili, P.J., et al. (2025) Avapritinib versus Midostaurin or Cladribine in Advanced Systemic Mastocytosis: A Retrospective Real-World External Control Study. Leukemia Research, 157, Article 107919. [Google Scholar] [CrossRef] [PubMed]
[22] Tang, Y.W., et al. (2025) Avapritinib for Systemic Mastocytosis with an Associated Myelodysplastic/Myeloproliferative Neo-Plasm: A Case Report and Literature Review. Chinese Journal of Hematology, 46, 468-472.