Multisystem ALK-Positive Histiocytosis With DCTN1::ALK Fusion in an Adult, Responsive to Alectinib: Case Report and Literature Review.

IF 1.6 4区 医学 Q3 DERMATOLOGY Journal of Cutaneous Pathology Pub Date : 2024-10-15 DOI:10.1111/cup.14732
Gregory S Phillips, Maxwell Knapp, Keith C Olsen, William Martin, Brandon Hayes-Lattin, Jina Chung
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Abstract

Anaplastic lymphoma kinase (ALK)-positive histiocytosis has emerged as a clinically relevant diagnosis featuring a wide span of clinical presentations, which are unified by the presence of ALK-positive histiocytes on histopathology and molecular drivers involving the ALK kinase gene. This report presents an adult case of multisystem ALK-positive histiocytosis with xanthogranuloma-like features on histopathology that was responsive to ALK inhibition, and includes a review of ALK-positive histiocytoses with cutaneous involvement reported in the literature. A 56-year-old male developed a widespread eruption of red-brown papules on the face, trunk, and upper extremities. Histopathological evaluation revealed a well-circumscribed, nodular dermal infiltrate of epithelioid histiocytes with Touton giant cells, rare bizarre multinucleated cells, and focal emperipolesis. The lesional cells were positive for CD68 and ALK1 immunohistochemical stains, and negative for CD1a. Next-generation sequencing identified a DCTN1::ALK fusion. On imaging, he was found to have bone, lung, soft tissue, and salivary gland involvement. ALK inhibition was initiated with alectinib, resulting in rapid improvement of cutaneous lesions and eventual complete resolution of abnormal imaging findings, which was sustained at 24 months of follow-up. This case adds to the spectrum of ALK-positive histiocytoses and further demonstrates the positive response with targeted therapy.

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成人多系统 ALK 阳性组织细胞增生症伴 DCTN1::ALK 融合,对 Alectinib 有反应:病例报告和文献综述。
无性淋巴瘤激酶(ALK)阳性组织细胞增生症已成为一种与临床相关的诊断,其特点是临床表现跨度大,组织病理学上出现的ALK阳性组织细胞和涉及ALK激酶基因的分子驱动因素将其统一起来。本报告介绍了一例多系统ALK阳性组织细胞增生症成人病例,该病例组织病理学上具有黄疽瘤样特征,对ALK抑制剂有反应,报告还回顾了文献中报道的皮肤受累的ALK阳性组织细胞增生症。一名 56 岁的男性在面部、躯干和上肢出现广泛的红褐色丘疹。组织病理学评估显示,真皮上皮样组织细胞呈环状、结节状浸润,并伴有Touton巨细胞、罕见的奇异多核细胞和局灶性表皮增生。病变细胞的CD68和ALK1免疫组化染色阳性,CD1a阴性。下一代测序确定了DCTN1::ALK融合。影像学检查发现,他的骨骼、肺部、软组织和唾液腺均受累。开始使用阿来替尼抑制ALK,结果皮肤病变迅速改善,最终完全消除了异常影像学检查结果,并在24个月的随访中得以持续。该病例增加了ALK阳性组织细胞增多症的病例范围,并进一步证明了靶向治疗的积极疗效。
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来源期刊
CiteScore
3.20
自引率
5.90%
发文量
174
审稿时长
3-8 weeks
期刊介绍: Journal of Cutaneous Pathology publishes manuscripts broadly relevant to diseases of the skin and mucosae, with the aims of advancing scientific knowledge regarding dermatopathology and enhancing the communication between clinical practitioners and research scientists. Original scientific manuscripts on diagnostic and experimental cutaneous pathology are especially desirable. Timely, pertinent review articles also will be given high priority. Manuscripts based on light, fluorescence, and electron microscopy, histochemistry, immunology, molecular biology, and genetics, as well as allied sciences, are all welcome, provided their principal focus is on cutaneous pathology. Publication time will be kept as short as possible, ensuring that articles will be quickly available to all interested in this speciality.
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