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病例报告:肾移植后罕见的髓样肉瘤发展,伴有 KRAS 和 DNMT3A 基因突变。

Case report: Rare myeloid sarcoma development following renal transplantation with KRAS and DNMT3A gene mutations.

机构信息

Department of Hematology, the First Affiliated Hospital of China Medical University, No.155, Nanjing North Street, Shenyang, Liaoning, 110001, PR China.

出版信息

Diagn Pathol. 2021 Aug 31;16(1):82. doi: 10.1186/s13000-021-01141-z.

Abstract

BACKGROUND

A high incidence of malignant tumors, such as post-transplant lymphoproliferative disorders (PTLD), Kaposi sarcoma, and renal cancer is common in solid organ and bone marrow transplant recipients. However, myeloid sarcoma (MS) after renal transplantation has rarely been reported and the diagnosis is challenging due to its low incidence.

CASE PRESENTATION

Here, we report a rare case of a 49-year-old man who developed myeloid sarcoma (MS) in the transplanted kidney two years after renal transplantation. Next-generation sequencing (NGS) showed mutations of KRAS and DNMT3A genes in the MS, and no gene mutations in the bone marrow. He presented a normal karyotype of 46, XY. Following treatment with 6 cycles of systemic chemotherapy, the patient was in satisfactory condition with stable serum creatinine (sCr) levels at the 1-year follow-up. In addition, we performed a detailed review with emphasis on the clinical manifestations, and the diagnostic and therapeutic processes of another 7 patients who developed MS following renal transplantation.

CONCLUSIONS

Our report illustrates the clinical utility of comprehensive genomic profiling in benefiting the diagnosis of MS, the selection of therapeutic strategy and the determination of whether MS is donor-derived.

摘要

背景

实体器官和骨髓移植受者常发生恶性肿瘤,如移植后淋巴组织增生性疾病(PTLD)、卡波西肉瘤和肾癌。然而,肾移植后髓样肉瘤(MS)很少见,由于发病率低,诊断具有挑战性。

病例介绍

本文报道了 1 例罕见的 49 岁男性肾移植后 2 年发生移植肾 MS 的病例。下一代测序(NGS)显示 MS 存在 KRAS 和 DNMT3A 基因突变,骨髓中无基因突变。核型分析正常,为 46,XY。接受 6 个周期全身化疗后,患者情况良好,1 年随访时血清肌酐(sCr)水平稳定。此外,我们详细回顾了另外 7 例肾移植后发生 MS 的患者的临床表现、诊断和治疗过程。

结论

本报告说明了综合基因组分析在 MS 诊断、治疗策略选择以及确定 MS 是否为供体来源方面的临床应用价值。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6fb0/8406562/e6e5f22a1143/13000_2021_1141_Fig1_HTML.jpg

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