The clinical relevance of sole loss of chromosome Y in myeloid neoplasms - Summary - MDSpire

The clinical relevance of sole loss of chromosome Y in myeloid neoplasms

  • By

  • Sandra Huber

  • Stephan Hutter

  • Manja Meggendorfer

  • Christian Pohlkamp

  • Torsten Haferlach

  • Isolde Summerer

  • May 9, 2026

  • 0 min

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Objective:

To genetically and clinically characterize patients with (suspected) myeloid neoplasms (MN) with sole loss of chromosome Y (LOY) to assess the relevance of LOY in routine hematologic diagnostics, particularly in distinguishing between incidental and disease-associated alterations.

Key Findings:
  • LOY clone size correlates with disease state, increasing from no MN to diagnosed MN, indicating its potential role in disease progression.
  • Higher LOY clone sizes are associated with a greater number of mutations, suggesting a link between LOY and genetic instability.
  • TET2 is the most frequently mutated gene across all groups, with varying frequencies, highlighting its significance in myeloid neoplasms.
Interpretation:

Isolated LOY is likely associated with myeloid neoplasms and may represent an early event in their pathogenesis, complicating the distinction between incidental age-related changes and disease-associated alterations, as evidenced by the correlation with mutation patterns.

Limitations:
  • Study limited to male patients, which may affect generalizability to female populations.
  • Potential biases in cytomorphological assessments could influence diagnostic accuracy.
Conclusion:

The findings support the clinical relevance of LOY in diagnosing myeloid neoplasms, suggesting it should be considered in routine diagnostics to improve patient outcomes.

Original Source(s)

The clinical relevance of sole loss of chromosome Y in myeloid neoplasms

  • by Sandra Huber, Stephan Hutter, Manja Meggendorfer, Christian Pohlkamp, Torsten Haferlach, Isolde Summerer

  • May 9, 2026

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