Clinical significance of acquired loss of the X chromosome in bone marrow

Zhenya Tang, Yan Li, Sa A. Wang, Shimin Hu, Shaoying Li, Xinyan Lu, Joseph D. Khoury, L. Jeffrey Medeiros, Guilin Tang*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


Acquired loss of the X chromosome (-X) as a sole abnormality is detected rarely in bone marrow (BM) and its clinical importance remains largely unknown. We studied 38 patients with isolated -X in BM. All patients were women, with a median age of 71 years. At the time of -X detection, BM was positive for myeloid neoplasm in 14 patients, lymphoma/myeloma in 10 patients, and was normal in 14 patients. -X was detected as a major clone in 15 patients (11 of them had myeloid neoplasm) and a minor clone in 23 patients. Combined morphologic and FISH analysis was performed in 16 cases, -X was detected in myeloid/erythroid cells in all 16 patients and in lymphocytes in 15 patients. With a median of 23 months follow-up, none of the patients with a negative BM or BM with involvement by lymphoid neoplasms developed a secondary myeloid neoplasm. We conclude that isolated -X is a rare finding in BM. In majority of patients, -X presents as a minor clone and is likely to be an aging effect or a benign finding; whereas when -X presents as a major clone in BM, it is often disease associated.

Original languageEnglish (US)
Pages (from-to)109-113
Number of pages5
JournalLeukemia Research
StatePublished - Aug 1 2016


  • Acquired loss of X chromosome
  • Aging effect
  • Combined morphologic-FISH analysis
  • Disease-related
  • Myeloid neoplasms

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

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