BRAF positive Langerhans cell sarcoma arising from CALR positive myeloproliferative neoplasm: evidence of a clonal progenitor.

IF 3.1 3区医学 Q1 PATHOLOGY

Virchows Archiv Pub Date : 2025-09-08 DOI:10.1007/s00428-025-04258-4

Zohre Sadeghian, Kirill A Lyapichev, Chieh Lin Fu, Gulrukh Botiralieva, Maria Julia Diacovo, Amir Behdad

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引用次数: 0

Abstract

Langerhans cell sarcoma (LCS) is an aggressive malignant neoplasm with a Langerhans cell immunophenotype and high-grade cytological features. Occasionally, it can coexist with other hematopoietic neoplasms with proven clonal relationship. Most of these neoplasms were found to be of lymphoid origin. This phenomenon is usually explained as lineage plasticity. Although, to the best of our knowledge, the coexistence of LCS and myeloproliferative neoplasm (MPN) with proven clonal relationship has never been reported. Herein, we describe a case of a 79-year-old man with MPN, who developed LCS 2 years after original diagnosis. Biopsy and pathological evaluation revealed a high-grade malignant neoplasm, identified as LCS with expressing CD1a, langerin, and S100. The next-generation sequencing performed on skin and bone marrow biopsies showed identical mutations in ASXL1, CALR, and TET2 genes, while the LCS tumor showed an additional BRAF mutation. This case presents the case of progression of MPN to LCS supported by molecular evidence.

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由CALR阳性骨髓增生性肿瘤引起的BRAF阳性朗格汉斯细胞肉瘤：克隆祖细胞的证据

朗格汉斯细胞肉瘤（LCS）是一种侵袭性恶性肿瘤，具有朗格汉斯细胞免疫表型和高级别细胞学特征。偶尔，它可以与其他造血肿瘤共存，并证实其克隆关系。这些肿瘤大多是淋巴性的。这种现象通常被解释为谱系可塑性。虽然，据我们所知，LCS与骨髓增生性肿瘤（MPN）共存并证实其克隆关系从未报道过。在此，我们描述了一个79岁的MPN男性病例，他在最初诊断后2年发展为LCS。活检和病理评估显示为高度恶性肿瘤，确定为LCS，表达CD1a， langerin和S100。对皮肤和骨髓活检进行的下一代测序显示ASXL1、CALR和TET2基因相同的突变，而LCS肿瘤显示额外的BRAF突变。本病例由MPN发展为LCS，并有分子证据支持。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Virchows Archiv 医学-病理学

CiteScore

7.40

自引率

2.90%

发文量

204

审稿时长

4-8 weeks

期刊介绍： Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.