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T 细胞淋巴细胞淋巴瘤和粗性 Ichthyosis 的共存:一个案例报告

Şule Çalışkan Kamış¹, Begül Yağcı¹

¹Department of Pediatric Hematology and Oncology, Adana Faculty of Medicine, Adana City Education and Research Hospital, University of Health Sciences, Adana, Turkey.

Case reports in oncological medicine

|February 14, 2025

概括

这项研究报告了一种罕见的T细胞淋巴瘤病例,与由于DSG1基因突变和超IgE综合征导致的先天性 ichthyosis同时发生. 这些发现强调了这些疾病的独立发生及其与罕见遗传综合征的潜在联系.

科学领域:

遗传学是一个遗传学.
皮肤病学皮肤病学
血液学血液学血液学

背景情况:

常见性 Ichthyosis (IV) 是一种遗传性皮肤疾病,通常与 filaggrin 基因突变有关.
虽然IV可以与血液性恶性瘤相关,但T细胞非霍奇金淋巴瘤 (T-NHL) 罕见地被记录在案.
先天性 ichthyosis 也可能与影响免疫功能的遗传综合征有关.

研究的目的:

报告一种罕见的T细胞淋巴瘤病例,该病例发生在患有先天性 ichthyosis 的患者身上.
调查共同发生的疾病的遗传基础.
为了探索 ichthyosis,T细胞淋巴瘤和高IgE综合征 (HIES) 之间的关联.

主要方法:

一名患有先天性 ichthyosis 和淋巴腺病的7岁男性患者的临床评估.
淋巴结的活检和组织病理学检查显示T细胞淋巴细胞淋巴瘤.
整体外基因组测序用于识别基因突变,特别是DSG1基因.
通过临床评估和血清IgE水平升高的HIES的诊断确认.

主要成果:

患者的T细胞淋巴细胞淋巴瘤的诊断得到证实.
整体外体序列测定在DSG1基因中发现了一种同卵性变异.
该患者被诊断患有高IgE综合征 (HIES),其特征是IgE升高和相关症状.
这一发现表明,雄心症和淋巴瘤的发生是独立的,它们可能通过罕见的遗传综合征 (如OMIM#615508.8) 联系在一起.

结论:

特别罕见的是T细胞淋巴瘤和胆核病的共存.
在这种情况下,缺血症和淋巴瘤的潜在机制似乎是不同的,表明独立的发展.
罕见的遗传综合征或遗传性疾病可以表现为多种看似无关的疾病,如淋巴瘤和胆固醇症.

关键词:

案例报告案例报告这就是病症.淋巴瘤淋巴瘤是什么整体外因子测序的测序

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