Rare myeloid sarcoma with KMT2A (MLL)-ELL fusion presenting as a vaginal wall mass

Haiyan Bao, Juehua Gao, Yi Hua Chen, Jessica K. Altman, Olga Frankfurt, Amanda L. Wilson, Madina Sukhanova, Qing Chen, Xinyan Lu*

*Corresponding author for this work

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

Backgroud: Myeloid sarcoma (MS) is a rare neoplasm of immature myeloid precursors that form tumor mass outside the bone marrow. The diagnosis of de novo MS can be challenging, particularly in patients with no prior history of hematologic malignancies or when MS involves unusual anatomic sites. Case presentation: The patient was a 53-year-old woman with a history of uterine fibroids and vaginal bleeding for many years who presented with a vaginal wall mass. The tumor had histologic and phenotypic features of histiocytic sarcoma, however, overlapping with a possible extramedullary MS. Using a comprehensive genomic profiling, we were able to identify recurrent chromosomal aberrations associated with MS including a rare KMT2A-ELL fusion, losses of chromosomes 1p, 9, 10, 15, 18, and gain of chromosome 1q and mutations in FLT3 and PTPN11, and achived the final diagnosis of a de novo MS. The patient received standard treatment for acute myeloid leukemia regimen with stem cell transplantation and achieved complete remission. Conclusion: Our case illustrates the clinical utility of comprehensive genomic profiling in assisting the diagnosis or differential diagnosis of challenging MS or histiocytic sarcoma cases, and in providing important information in tumor biology for appropriate clinical management.

Original languageEnglish (US)
Article number26
JournalDiagnostic pathology
Volume14
Issue number1
DOIs
StatePublished - Mar 28 2019

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Keywords

  • Copy number aberrations
  • Cytogenetics
  • Histiocytic sarcoma
  • KMT2A-ELL fusion
  • Molecular
  • Myeloid sarcoma
  • OncoScan
  • SNP microarray

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology

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