Kemps Paul G, Woei-A-Jin F J Sherida H, Schöffski Patrick, Tousseyn Thomas, Vanden Bempt Isabelle, Meyer-Wentrup Friederike A G, Dors Natasja, van Eijkelenburg Natasha K A, Scheijde-Vermeulen Marijn A, Jazet Ingrid M, Limper Maarten, Jak Margot, Verdijk Robert M, Donker Marjolein L, de Jonge Nick A, van Noesel Carel J M, Hebeda Konnie M, van Dorp Suzanne, Tonino Sanne H, van Laar Jan A M, van den Bos Cor, van Halteren Astrid G S
Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Blood Neoplasia. 2024 Jun 10;1(3):100023. doi: 10.1016/j.bneo.2024.100023. eCollection 2024 Sep.
Histiocytic disorders are rare hematologic neoplasms characterized by a notable dependence on mitogen-activated protein kinase signaling. Targeted therapy is an emerging treatment option, yet the number of reported patients remains limited. Here, we describe 40 patients with histiocytic neoplasms who were treated with targeted therapy in 7 tertiary referral hospitals from the Netherlands and Belgium. The cohort comprised of 6 (15%) children and 34 (85%) adults with diverse histiocytoses, including Langerhans cell histiocytosis (LCH; n = 12), Erdheim-Chester disease (n = 14), central nervous system xanthogranuloma (n = 2), Rosai-Dorfman disease (n = 3), histiocytic sarcoma (n = 2), ALK-positive histiocytosis (n = 1), and mixed/unclassifiable histiocytosis (n = 6). Five patients were included in a clinical trial; 35 (88%) received BRAF/MEK inhibitors outside of trials. Among these 35 patients with available follow-up data, median time on targeted treatment was 1.9 years (range, 0.04-5.8 years). Complete or partial responses were observed in 25 of 27 (93%) patients treated for multisystemic and/or solid lesions and 2 of 8 (25%) patients treated for neurodegenerative LCH. Responses were generally durable, although 10 patients lost response after dose reduction or therapy interruption. Responses were recaptured in 9 of 10 cases. Two patients developed new or progressive neurodegenerative lesions: 1 during and 1 after vemurafenib therapy. At last follow-up, 8 adults had stopped targeted therapy because of toxicity. This study corroborates the favorable outcomes of BRAF/MEK inhibition in patients with histiocytosis described previously. However, it also highlights limitations and calls for prospective studies.
组织细胞疾病是罕见的血液系统肿瘤,其显著依赖丝裂原活化蛋白激酶信号传导。靶向治疗是一种新兴的治疗选择,但报告的患者数量仍然有限。在此,我们描述了40例在荷兰和比利时的7家三级转诊医院接受靶向治疗的组织细胞肿瘤患者。该队列包括6名(15%)儿童和34名(85%)成人,患有多种组织细胞增多症,包括朗格汉斯细胞组织细胞增多症(LCH;n = 12)、 Erdheim-Chester病(n = 14)、中枢神经系统黄色瘤(n = 2)、Rosai-Dorfman病(n = 3)、组织细胞肉瘤(n = 2)、ALK阳性组织细胞增多症(n = 1)以及混合/无法分类的组织细胞增多症(n = 6)。5名患者纳入了一项临床试验;35名(88%)在试验之外接受了BRAF/MEK抑制剂治疗。在这35例有可用随访数据的患者中,靶向治疗的中位时间为1.9年(范围为0.04 - 5.8年)。在27例接受多系统和/或实体病变治疗的患者中有25例(93%)以及8例接受神经退行性LCH治疗的患者中有2例(25%)观察到完全或部分缓解。缓解通常是持久的,尽管10例患者在剂量减少或治疗中断后失去缓解。10例中有9例重新获得缓解。2例患者出现新的或进展性神经退行性病变:1例在维莫非尼治疗期间,1例在治疗后。在最后一次随访时,8名成人因毒性停止了靶向治疗。本研究证实了先前描述的BRAF/MEK抑制对组织细胞增多症患者的良好疗效。然而,它也突出了局限性并呼吁进行前瞻性研究。