Whole genome sequencing elucidates etiological differences in MCPyV-negative Merkel cell carcinoma

被引：1

作者：

Stephan, Carla ^{[1
]}

Al Assaad, Majd ^{[1
,2
]}

Levine, Max F. ^{[3
]}

Deshpande, Aditya ^{[3
]}

Sigouros, Michael ^{[2
]}

Manohar, Jyothi ^{[2
]}

Sboner, Andrea ^{[1
,2
,4
]}

Elemento, Olivier ^{[2
,4
]}

Pavlick, Anna C. ^{[5
]}

Mosquera, Juan Miguel ^{[1
,2
]}

机构：

[1] Weill Cornell Med, Dept Pathol & Lab Med, New York, NY 10065 USA

[2] Weill Cornell Med, Englander Inst Precis Med, New York, NY 10065 USA

[3] Isabl Inc, New York, NY USA

[4] Weill Cornell Med, Inst Computat Biomed, New York, NY 10065 USA

[5] Weill Cornell Med, Dept Med, New York, NY 10065 USA

来源：

PATHOLOGY RESEARCH AND PRACTICE | 2024年 / 263卷

关键词：

Merkel cell carcinoma; Neuroendocrine; Polyoma virus; Whole-genome sequencing; MUTATIONS; EVENTS; TP53; GENE;

D O I：

10.1016/j.prp.2024.155668

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Merkel cell carcinoma (MCC) is an aggressive neuroendocrine neoplasm of the skin. Immunosuppression, ultraviolet radiation and the integration of Merkel cell polyomavirus (MCPyV) have all been shown to be involved in the pathogenesis of this malignancy. We performed whole genome sequencing on two MCPyV-negative cases of MCC that demonstrated very different clinical presentations and outcomes, and mutational profiles. The first case exhibited a highly aggressive clinical course, absence of UV-signature mutations and a low tumor mutational burden. A rearrangement in the tumor suppressor gene SUFU was identified, a likely driver and potential target of the Hedgehog signaling pathway. Meanwhile, the second case exhibited a less aggressive behavior, harbored UV-signature mutations, and a high mutational burden including mutations in TP53 and RB1.

引用

页数：6

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