Scholarlink

<p>Anaplastic large cell lymphoma (ALCL) is a rare form of mature T cell lymphoma in children, particularly the anaplastic large cell kinase (ALK) negative subtype. Despite frontline treatment advances, there is no standard approach to treat relapsed disease and prognosis remains poor. Recently, JAK/STAT activating mutations have been implicated in the pathogenesis of ALK-negative ALCL in adults, but the oncogenic drivers of this disease in children are not well characterized. Herein, we describe a case of a 13 year-old boy with early systemic relapse of ALK-negative ALCL harboring a rare <i>ATXN2L::JAK2</i> fusion, who achieved complete remission with ruxolitinib monotherapy. Consolidative allogeneic hematopoietic stem cell transplant HSCT then lead to long-term remission. This case underscores the critical role of comprehensive genomic profiling for rare histologies and supports the potential utility of JAK/STAT pathway inhibitors in select patients with ALK-negative ALCL.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Complete remission of relapsed ATXN2L::JAK2 fusion positive anaplastic large cell lymphoma following ruxolitinib monotherapy in a child

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年2月14日

查看全文
  • Tal Cohen,
  • Ting Zhou,
  • Ukuemi Edema,
  • Neeta Pandit-Taskar,
  • Christopher Forlenza,
  • Anita Price,
  • Kavitha Ramaswamy,
  • Tanya Trippett,
  • Maria Luisa Sulis,
  • Jaap-Jan Boelens,
  • Megan S. Lim,
  • Neerav Shukla

摘要

Anaplastic large cell lymphoma (ALCL) is a rare form of mature T cell lymphoma in children, particularly the anaplastic large cell kinase (ALK) negative subtype. Despite frontline treatment advances, there is no standard approach to treat relapsed disease and prognosis remains poor. Recently, JAK/STAT activating mutations have been implicated in the pathogenesis of ALK-negative ALCL in adults, but the oncogenic drivers of this disease in children are not well characterized. Herein, we describe a case of a 13 year-old boy with early systemic relapse of ALK-negative ALCL harboring a rare ATXN2L::JAK2 fusion, who achieved complete remission with ruxolitinib monotherapy. Consolidative allogeneic hematopoietic stem cell transplant HSCT then lead to long-term remission. This case underscores the critical role of comprehensive genomic profiling for rare histologies and supports the potential utility of JAK/STAT pathway inhibitors in select patients with ALK-negative ALCL.