Departments of Pathology and Laboratory Medicine/NewYork-Presbyterian Hospital, New York, NY.
Departments of Medicine, Weill Cornell Medicine/NewYork-Presbyterian Hospital, New York, NY.
Am J Clin Pathol. 2019 Sep 9;152(4):486-494. doi: 10.1093/ajcp/aqz056.
Rare cases of clonally related histiocytic sarcoma (HS) following B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) have been reported to date.
We present a patient with HS, which appeared as a breast mass 12 months after the initial diagnosis of B-ALL.
Both HS and the B-ALL shared IGH-MYC and IGK gene rearrangements. Next-generation sequencing and whole-exome sequencing (WES) studies detected 35 common mutations, as well as mutations unique to B-ALL (16) and HS (15), including BRAF D594G. The patient achieved complete remission of B-ALL, but HS failed to respond to many cycles of intensive chemotherapy regimens. A partial response was achieved with sorafenib, a BRAF-targeted therapy.
To our knowledge, this is the first study to demonstrate by WES that clonally related B-ALL and HS arise through divergent evolution from a common precursor. We present our findings together with a discussion of the previously reported cases of HS in patients with B-ALL.
迄今为止，已有报道称在 B 淋巴细胞白血病/淋巴瘤（B-ALL/LBL）后出现罕见的克隆相关组织细胞肉瘤（HS）病例。
我们报告了 1 例 HS 患者，该患者在最初诊断为 B-ALL 12 个月后出现乳房肿块。
HS 和 B-ALL 均存在IGH-MYC 和 IGK 基因重排。下一代测序和全外显子组测序（WES）研究检测到 35 个常见突变，以及 B-ALL（16 个）和 HS（15 个）特有的突变，包括 BRAF D594G。该患者的 B-ALL 完全缓解，但 HS 对多次强化化疗方案均无反应。索拉非尼（一种针对 BRAF 的治疗药物）取得部分缓解。
据我们所知，这是首例通过 WES 证明克隆相关的 B-ALL 和 HS 是从共同前体通过不同的进化而来的研究。我们提出了我们的发现，并讨论了先前报道的 B-ALL 患者中 HS 的病例。
