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

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.

Keywords: Case report; DNMT3A; KRAS; Myeloid sarcoma; Renal transplantation.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Biomarkers, Tumor / genetics*
  • Cytarabine / therapeutic use
  • DNA Methyltransferase 3A / genetics*
  • DNA Mutational Analysis
  • Daunorubicin / therapeutic use
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Kidney Transplantation / adverse effects*
  • Male
  • Middle Aged
  • Mutation*
  • Proto-Oncogene Proteins p21(ras) / genetics*
  • Sarcoma, Myeloid / diagnostic imaging
  • Sarcoma, Myeloid / drug therapy
  • Sarcoma, Myeloid / genetics*
  • Sarcoma, Myeloid / pathology
  • Treatment Outcome

Substances

  • Biomarkers, Tumor
  • DNMT3A protein, human
  • KRAS protein, human
  • Cytarabine
  • DNA Methyltransferase 3A
  • Proto-Oncogene Proteins p21(ras)
  • Daunorubicin