儿童混合表型急性白血病患者PICALM::MLLT10基因重排的异常表现。

IF 1.2 4区 医学 Q4 HEMATOLOGY Pediatric Hematology and Oncology Pub Date : 2023-01-01 Epub Date: 2023-05-12 DOI:10.1080/08880018.2023.2197938
Erlyn Smith, Chandra Krishnan
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引用次数: 0

摘要

混合表型白血病(MPAL)是一种罕见的急性白血病,其母细胞在同一细胞上共表达一个以上谱系的抗原,或具有不同谱系的不同母细胞群体。在此,我们报告了一名五岁男性腹股沟淋巴结病,诊断为MPAL-T/髓系MPAL-T/M。该克隆在骨髓和淋巴结中显示出谱系和免疫表型不同的成纤维细胞群。骨髓细胞遗传学研究证实了一种罕见的PICALM::MLLT10基因融合。在几个小病例系列中,已经发现具有该融合基因的患者具有高风险特征和低生存率。我们的病例报告强调了一名儿科患者在髓外和髓外部位的异常表现。在提交本病例报告时,患者对化疗表现出良好的反应,并继续处于缓解状态。
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An unusual presentation of a pediatric patient with mixed phenotypic acute leukemia with PICALM::MLLT10 gene rearrangement.

Mixed phenotype leukemia (MPAL) is a rare type of acute leukemia with blasts that co-express antigens of more than one lineage on the same cell or that have separate populations of blasts of different lineages. Here, we report a five-year-old male with inguinal lymphadenopathy diagnosed with MPAL-T/Myeloid MPAL-T/M. The clone demonstrated lineage and immunophenotypically distinct blast populations in the bone marrow and lymph nodes. Bone marrow cytogenetic studies confirmed a rare PICALM::MLLT10 gene fusion. Patients with this fusion gene have been found to have high risk features and poor survival rates in several small case series. Our case report highlights an unusual presentation in medullary and extramedullary sites, within a pediatric patient. At the time of submission of this case report, the patient has shown good response to chemotherapy and continues to be in remission.

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来源期刊
CiteScore
2.60
自引率
5.90%
发文量
71
审稿时长
6-12 weeks
期刊介绍: PHO: Pediatric Hematology and Oncology covers all aspects of research and patient management within the area of blood disorders and malignant diseases of childhood. Our goal is to make PHO: Pediatric Hematology and Oncology the premier journal for the international community of clinicians and scientists who together aim to define optimal therapeutic strategies for children and young adults with cancer and blood disorders. The journal supports articles that address research in diverse clinical settings, exceptional case studies/series that add novel insights into pathogenesis and/or clinical care, and reviews highlighting discoveries and challenges emerging from consortia and conferences. Clinical studies as well as basic and translational research reports regarding cancer pathogenesis, genetics, molecular diagnostics, pharmacology, stem cells, molecular targeting, cellular and immune therapies and transplantation are of interest. Papers with a focus on supportive care, late effects and on related ethical, legal, psychological, social, cultural, or historical aspects of these fields are also appreciated. Reviews on important developments in the field are welcome. Articles from scientists and clinicians across the international community of Pediatric Hematology and Oncology are considered for publication. The journal is not dependent on or connected with any organization or society. All submissions undergo rigorous peer review prior to publication. Our Editorial Board includes experts in Pediatric Hematology and Oncology representing a wide range of academic and geographic diversity.
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