Sex chromosome loss after allogeneic hematopoietic stem cell transplant in patients with hematologic neoplasms: A diagnostic dilemma for clinical cytogeneticists

Zhenya Tang*, L. Jeffrey Medeiros, C. Cameron Yin, Wei Wang, Xinyan Lu, Ken H. Young, Joseph D. Khoury, Guilin Tang

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


Background: Sex chromosome loss (SCL), including loss of an X chromosome (-X) in females and loss of the Y chromosome (-Y) in males, resulting in a karyotype of 45,X, rarely occurs in patients post an allogeneic hematopoietic stem cell transplant (alloHSCT). However, origin of this abnormal clone and its clinical significance remains unknown. Results: We present 12 cases with SCL who underwent alloHSCT; 9 patients (4 men and 5 women with a median age of 56 years) developed isolated SCL after alloHSCT (Group I), and 3 patients (all women with a median age of 58 years) had a SCL before undergoing alloHSCT after which SCL disappeared (Group II). The primary neoplasms included chronic lymphocytic leukemia (n = 5), acute myeloid leukemia (n = 5), chronic myelogenous leukemia with nodal marginal zone lymphoma (n = 1) and Hodgkin lymphoma (n = 1). According to the donor/recipient relationship, their alloHSCT can be divided into sex-matched, HLA-matched, unrelated donors (n = 2); sex-mismatched, HLA-matched, unrelated donors (n = 4); sex-mismatched, HLA-matched, related donors (2 HLA-identical and 2 HLA-haploidentical cases) and sex-matched, HLA-matched, related donors (2 HLA-haploidentical cases). In Group I, isolated SCL was first detected with a median interval of 3 months (range 1 to 42 months) after the alloHSCT. By the end of clinical follow-up in patients in Group I, 7 patients expired with a median overall survival of 45 months (range 3 to 108 months) after alloHSCT and 33 months (range 0 to 66 months) after SCL detection. In Group II, 1 patient expired with a survival time of 54 months after the alloHSCT. Detection of SCL after alloHSCT can be transient, intermittent or persistent. Conclusions: Interpretation of SCL is challenging in the context of alloHSCT. Chimerism testing is useful in determining the origin of SCL. In the case of SCL with donor/recipient chimerism, deduction of the SCL origin by all means and use of "-?X" or "-?Y" in the ISCN nomenclature are recommended. Clinical follow-up with closely monitoring the SCL by both cytogenetic and molecular analyses is needed.

Original languageEnglish (US)
Article number62
JournalMolecular Cytogenetics
Issue number1
StatePublished - Aug 8 2016


  • -X
  • -Y
  • Allogeneic hematopoietic stem cell transplant (alloHSCT)
  • Chimerism testing
  • Cytogenetic (CG) analyses
  • Sex chromosome loss (SCL)

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Biochemistry, medical


Dive into the research topics of 'Sex chromosome loss after allogeneic hematopoietic stem cell transplant in patients with hematologic neoplasms: A diagnostic dilemma for clinical cytogeneticists'. Together they form a unique fingerprint.

Cite this