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儿童伴发血液肿瘤的不典型表现——诊断和治疗的困境。

Unusual Presentation of -Associated Concomitant Hematological Neoplasm in a Child-Diagnostic and Treatment Struggle.

机构信息

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Samora Maschela Str., 1, 117998 Moscow, Russia.

Abu Dhabi Stem Cells Center, Mahdar Qutouf Str., 25, Abu Dhabi 22404, United Arab Emirates.

出版信息

Int J Mol Sci. 2023 Sep 22;24(19):14451. doi: 10.3390/ijms241914451.

DOI:10.3390/ijms241914451
PMID:37833906
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10572181/
Abstract

Simultaneous multilineage hematologic malignancies are uncommon and associated with poorer prognosis than single-lineage leukemia or lymphoma. Here, we describe a concomitant malignant neoplasm in a 4-year-old boy. The child presented with massive lymphoproliferative syndrome, nasal breathing difficulties, and snoring. Morphological, immunocytochemical, and flow cytometry diagnostics showed coexistence of acute myeloid leukemia (AML) and peripheral T-cell lymphoma (PTCL). Molecular examination revealed a rare t(9;9)(q34;q34)/ translocation as well as common TCR clonal rearrangements in both the bone marrow and lymph nodes. The disease showed primary refractoriness to both lymphoid and myeloid high-dose chemotherapy as well as combined targeted therapy (trametinib + ruxolitinib). Hence, HSCT was performed, and the patient has since been in complete remission for over a year. This observation highlights the importance of molecular techniques for determining the united nature of complex -positive malignant neoplasms arising from precursor cells with high lineage plasticity.

摘要

同时发生的多谱系血液系统恶性肿瘤并不常见，其预后比单谱系白血病或淋巴瘤差。在此，我们描述了一名 4 岁男孩的同时发生的恶性肿瘤。患儿表现为巨大的淋巴增生综合征，伴有鼻呼吸困难和打鼾。形态学、免疫细胞化学和流式细胞术诊断显示急性髓系白血病（AML）和外周 T 细胞淋巴瘤（PTCL）并存。分子检查显示骨髓和淋巴结中罕见的 t(9;9)(q34;q34)/易位以及常见的 TCR 克隆重排。该疾病对淋巴样和髓样高剂量化疗以及联合靶向治疗（曲美替尼+鲁索替尼）均表现为原发性耐药。因此，进行了 HSCT，此后患者已完全缓解超过一年。这一观察结果强调了分子技术对于确定源自具有高谱系可塑性前体细胞的复杂阳性恶性肿瘤的联合性质的重要性。

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