Abstract
BackgroundSex 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.ResultsWe 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.ConclusionsInterpretation 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.
Highlights
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
Due to a possible coexistence of cells originated from both donor and recipient, interpreting the finding of a SCL after an alloHSCT can be very challenging, depending on multiple factors, such as age of donor and recipient, type of alloHSCT, level of chimerism, technical limits of methods used for detection of SCL and other factors
We report 3 additional patients who had SCL prior to alloHSCT after which SCL disappeared which we consider as a control group
Summary
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) Origin of this abnormal clone and its clinical significance remains unknown. Human leukocyte antigen (HLA) matched hematopoietic stem cell transplant (HSCT) is considered a highly effective treatment or even a permanent cure for several hematologic malignancies This type of therapy is widely applied in the clinical practice, e.g., there have been over 1 million HSCTs performed between 2006 and 2014 worldwide [12,13,14], and 19,220 HSCTs (10,872 autologous (autoHSCTs) and 8348 allogeneic (alloHSCTs)) in the United States in 2013 alone [15]. Due to a possible coexistence of cells originated from both donor and recipient, interpreting the finding of a SCL after an alloHSCT can be very challenging, depending on multiple factors, such as age of donor and recipient, type of alloHSCT (sex-matched vs. sex-mismatched; related vs. unrelated donor; identical vs. haploidentical), level of chimerism, technical limits of methods used for detection of SCL and other factors
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