Pathology Project for Molecular Targets, The Cancer Institute, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto, Tokyo 135-8550, Japan; Division of Pathology, The Cancer Institute, Japanese Foundation for Cancer Research, Tokyo, Japan.
Pathology Project for Molecular Targets, The Cancer Institute, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto, Tokyo 135-8550, Japan; Division of Pathology, The Cancer Institute, Japanese Foundation for Cancer Research, Tokyo, Japan; Clinical Pathology Center, The Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan.
Hematol Oncol Clin North Am. 2020 Jun;34(3):523-538. doi: 10.1016/j.hoc.2020.01.003. Epub 2020 Mar 18.
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a skin-tropic hematopoietic malignancy. Approximately 60% of cases with analyzable karyotyping results show complex karyotypes. Losses are more frequently found than copy-number gains. Recurrently deleted regions include tumor suppressor genes. No specific chromosomal abnormalities have been demonstrated in BPDCN, but genomic rearrangements involving the MYB family genes and MYC were identified. One-third of cases of BPDCN harbor the 8q24 rearrangement, most frequently with 6p21 harboring RUNX2, which is associated with immunoblastoid cytomorphology and MYC expression. MYB rearrangement is detected in 20% of patients with BPDCN. We review copy-number alterations and chromosomal rearrangements.
原始滤泡性淋巴瘤（FOLLICULAR LYMPHOMA，FL）是一种常见的惰性非霍奇金淋巴瘤，占所有非霍奇金淋巴瘤的 22%。其特征是滤泡生长模式，中心母细胞和免疫母细胞的不同程度存在。
在过去的几十年中，对 FL 的遗传学和分子发病机制的理解取得了重大进展。细胞遗传学异常，特别是 t（14；18）（q32；q21），导致 BCL2 和免疫球蛋白重链基因的易位，导致 BCL2 蛋白的过表达，这是 FL 中最常见的遗传学异常，与更好的预后相关。其他遗传学异常包括 18q 缺失、6q 缺失和 1q 增益，它们与更具侵袭性的疾病有关。最近，已经确定了几个基因改变，包括 NOTCH1、PI3KCA 和 CDKN2A 的突变，它们可能有助于预测对治疗的反应和疾病的结果。总的来说，对 FL 的遗传学和分子发病机制的理解为更好地理解疾病的生物学和治疗提供了基础。
