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

Share

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

Related Content

UCI Health is at the 2026 American Society of Clinical Oncology (ASCO) Annual Meeting

Join UCI Health at the 2026 American Society of Clinical Oncology (ASCO) Annual Meeting, May 29 to June 2 in Chicago, as we showcase how Orange County’s only academic health system is advancing the future of cancer care.

  • by

  • May 8, 2026

  • 5 min
Acupuncture for Nocturia in Survivors of Prostate Cancer

Guest Editor’s Note: Nocturia, waking up from sleep more than once to urinate, is prevalent in survivors of prostate cancer and is associated with a diminished quality of life and a higher mortality t...

Gerald Hsu, MD, PhD, Named Editor-in-Chief of the ASCO Educational Book

ASCO is pleased to announce the appointment of Gerald Hsu, MD, PhD, as the new Editor-in-Chief of the ASCO Educational Book.    

  • by ASCO

  • May 8, 2026

  • 2 min