64岁男性BRAF和NRAS突变的Langerhans型联合组织细胞增生症（Langerhans细胞组织细胞增生症和Erdheim-Chester病）：一例

Q4 Medicine

Revista Espanola de Patologia Pub Date : 2023-07-01 DOI:10.1016/j.patol.2021.07.001

María Soledad Rodríguez-Duque, Paula Martín Soler, M. Carmen González Vela, Jose Javier Gómez Román

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引用次数: 0

摘要

我们报告一例64岁男性克罗恩病病史，表现为急性腹痛。他正在接受皮肤病检查。皮肤和肺部活检均显示“L”（Langerhans）组组织细胞增多症。皮肤活检显示表达Langerin、CD1a和S100的组织细胞增殖，分子研究对BRAF p.V600E突变呈阳性。在肺活检中，发现组织细胞增殖，CD68和S100阳性，Langerin和CD1a阴性；NRAS c.38G>；外显子2中的A（p.G13D）也被检测到。

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Histiocitosis combinada de tipo Langerhans (Histiocitosis de células de Langerhans y enfermedad de Erdheim-Chester) en varón de 64 años con mutaciones en BRAF y NRAS: a propósito de un caso

We present a case of a 64-year-old male with a history of Crohn's disease who presented with an episode of acute abdominal pain. He was being investigated for a dermatological lesion. A skin and lung biopsy both revealed histiocytosis of the “L” (Langerhans) group. The skin biopsy showed a proliferation of histiocytic cells expressing Langerin, CD1a and S100 and the molecular study was positive for the BRAF p.V600E mutation. In the lung biopsy, a proliferation of histiocytic cells was found, which were positive for CD68 and S100 and negative for Langerin and CD1a; mutations in NRAS c.38G>A in exon 2 (p.G13D) were also detected.

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来源期刊

Revista Espanola de Patologia Medicine-Pathology and Forensic Medicine

CiteScore

0.90

自引率

0.00%

发文量

审稿时长

34 days