Jenei Alex, Bedics Gábor, Erdélyi Dániel J, Müller Judit, Györke Tamás, Bödör Csaba, Szepesi Ágota
Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
Hungarian Centre of Excellence for Molecular Medicine - Semmelweis University (HCEMM-SE) Molecular Oncohematology Research Group, Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
Front Pediatr. 2022 Sep 16;10:959307. doi: 10.3389/fped.2022.959307. eCollection 2022.
A 5-year-old male child was diagnosed with interdigitating dendritic cell sarcoma (IDCS) during his maintenance therapy for B-cell precursor acute lymphoblastic leukemia (B-ALL). Multiplex lymph node involvements of the neck were found by positron emission tomography CT (PET-CT). Treatments, including surgical and chemotherapy, resulted in complete remission. Four years later, systemic bone infiltration was discovered. Surgical resection of the IV rib and intensive chemotherapy led to a complete morphological remission, and allogeneic bone marrow transplantation was performed. Comprehensive genomic profiling of the formalin fixed the tumor tissue, and the cryopreserved leukemic cells revealed several common alterations and divergent clonal evolution with a novel mutation of the IDCS, which is responsible for the trans-differentiation of the common lymphoid-committed tumor progenitor.
一名5岁男童在B细胞前体急性淋巴细胞白血病（B-ALL）维持治疗期间被诊断为指突状树突状细胞肉瘤（IDCS）。正电子发射断层扫描CT（PET-CT）发现颈部多处淋巴结受累。包括手术和化疗在内的治疗使病情完全缓解。四年后，发现全身骨骼浸润。对第四肋骨进行手术切除并强化化疗，实现了形态学完全缓解，并进行了异基因骨髓移植。对福尔马林固定的肿瘤组织和冷冻保存的白血病细胞进行综合基因组分析，发现了几种常见改变以及具有IDCS新突变的不同克隆进化，该突变导致常见淋巴系肿瘤祖细胞发生转分化。
