Merkel Cell Carcinoma With Extensive Bone Marrow Metastasis and Peripheral Blood Involvement: A Case Report With Immunohistochemical and Mutational Studies.

IF 1.3 4区 医学 Q3 ANATOMY & MORPHOLOGY
Benjamin Highland, William Patrick Morrow, Karen Arispe, Michael Beaty, Danielle Maracaja
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引用次数: 0

Abstract

Merkel cell carcinoma (MCC) is a rare, highly aggressive skin cancer of neuroendocrine origin that is typically associated with either the presence of Merkel cell polyomavirus or chronic exposure to ultraviolet (UV) light. We report a case of relapsed MCC that presented with new symptoms of fatigue, back pain, and myeloid left shift identified during scheduled follow-up. The patient was found to have circulating neoplastic cells in the peripheral blood and bone marrow metastasis. Immunohistochemistry for synaptophysin, CD56, INSM-1, CK20, CD117 were positive, whereas CD34, TdT, Chromogranin, CD10, myeloperoxidase, CD3 and CD19 were negative. Flow cytometry of the peripheral blood confirmed the presence of an abnormal nonhematopoietic cell population expressing CD56 positivity. A next-generation sequencing (NGS) panel revealed the presence of variants in RB1, TP53, and other genes, some of which have not been previously described in MCC. This rare presentation highlights the challenges in the diagnosis and management of MCC.

伴有广泛骨髓转移和外周血受累的梅克尔细胞癌:附免疫组化和基因突变研究的病例报告。
梅克尔细胞癌(MCC)是一种罕见、侵袭性极强的神经内分泌源性皮肤癌,通常与梅克尔细胞多瘤病毒或长期暴露于紫外线(UV)有关。我们报告了一例复发的 MCC 病例,患者在预定的随访期间出现了疲劳、背痛和骨髓左移等新症状。患者的外周血中发现有循环肿瘤细胞和骨髓转移灶。免疫组化检查发现突触素、CD56、INSM-1、CK20、CD117呈阳性,而CD34、TdT、Chromogranin、CD10、髓过氧化物酶、CD3和CD19呈阴性。外周血流式细胞术证实存在异常的非造血细胞群,表达 CD56 阳性。下一代测序(NGS)面板显示存在RB1、TP53和其他基因的变异,其中一些变异以前从未在MCC中出现过。这一罕见的病例凸显了 MCC 诊断和管理所面临的挑战。
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来源期刊
Applied Immunohistochemistry & Molecular Morphology
Applied Immunohistochemistry & Molecular Morphology ANATOMY & MORPHOLOGY-MEDICAL LABORATORY TECHNOLOGY
CiteScore
3.20
自引率
0.00%
发文量
153
期刊介绍: ​Applied Immunohistochemistry & Molecular Morphology covers newly developed identification and detection technologies, and their applications in research and diagnosis for the applied immunohistochemist & molecular Morphologist. Official Journal of the International Society for Immunohistochemisty and Molecular Morphology​.
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