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Cytogenetic study shows 47, XXY karyotype with Philadelphia chromosome abnormality
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Klinefelter syndrome (KS) is a sex chromosome disorder and has been reported to be associated with increased risk for malignancies. We report a 22-year-old male patient who was diagnosed to have chronic myeloid leukemia in chronic phase. Bone marrow cytogenetic examination revealed karyotype 47, XXY, t (9; 22)(q34, q11) suggestive of KS with presen...
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... However, the increase in sex chromosomes, including an increase in the X chromosome (over 4 chromosomes) and in the Y chromosome (over 2 chromosomes) as well as the mosaic form of 47, XXY/46, XY, has also been reported. KS is rarely associated with CML [60][61][62]. In these patients, SCL occurs during the formation of abnormal karyotype, which leads to three different clones: 46, XX, -Y, t(9; 22)(q34; q11)/46, XX, t(Y; 20) (q11; q13), t (9; 22)(q34; q11), -der(Y) t(Y; 20) (q11; q13)/near-tetraploid (4n). ...
Background and objective: Sex chromosome loss (SCL) can occur in older men as a
physiological phenomenon or as an acquired abnormality in leukemia. Loss of chromosome
Y and loss of chromosome X are acquired disorders that are mainly observed in patients over
80 years as well as in myeloid and lymphoid malignancies. In this review, we examine the
cytogenetic and molecular changes of sex chromosomes in leukemia.
Methods: Relevant English language literature were searched and retrieved from PubMed
search engine (1990–2016). The following keywords were used: ‘Sex chromosomes’,
‘Leukemia’ and ‘Cytogenetics’.
Results: The loss of tumor suppressor genes along with these chromosomal abnormalities in
the majority of malignant cells in bone marrow (BM) has raised the question whether this is
an age-related phenomenon or has occurred as a result of clonal abnormality. On the other
hand, the presence of these chromosomal abnormalities in a number of genetic diseases
associated with leukemia leads to progression of malignancy, and their role in peripheral
blood stem cell transplantation confirm the finding that these chromosomal abnormalities
can play an important role in clonal abnormality.
Conclusion: The presence of these abnormalities can cause genetic instability in BM and result
in the development of a malignant clone and progression of the disease. In addition, the
evaluation of SCL together with the genes involved in these chromosomes can contribute to
predict the disease prognosis as well as monitoring of malignancy
... In other cases of CML, one patient presented in the chronic phase and had a persistent suboptimal molecular response despite therapy with second generation Tyrosine kinase inhibitor [8]. One second patient, reported by Chennuri et al., was treated with oral imatinib mesylate and remained in complete hematological and major molecular remission after 2 years of continued imatinib therapy [9]. ...
Klinefelter syndrome (KS) is a chromosome abnormality characterized by a 47, XXY karyotype associated with hypogonadism and infertility. We present two cases of leukemia in patients with KS. The first patient presented with acute promyelocytic leukemia. He relapsed after the end of treatment. The second patient was diagnosed with chronic myeloid leukemia. Treatment with imatinib failed and the patient presented with myeloid blast crisis.
Turner syndrome (TS) is a chromosomal condition that affects development in females. The case of TS in the mother whose
child was diagnosed with acute leukemia at the age of 1.5 years is presented. FANCI gene in child was detected among 94 genes
associated with hematologic malignancies. Acute lymphoblastic leukemia, common-B ІІ, L1, associated with t(12;21)(p13;q22),
TEL/AML1 (ETV6/RUNX1) in a child was detected during a prophylactic examination. During the treatment of the baby, the
mother had a second pregnancy, which ended in miscarriage at 8 weeks. Upon cytogenetic examination in the mother TS was
revealed — mos45,Х[23]/46, ХХ[7], and the father’s karyotype was without abnormalities (46, ХУ). After chemotherapy, the
child is in clinical-hematological remission. It could be suggested that chromosomal abnormalities in mother with TS may cause
the chromosomal instability and hematological malignancy in offspring.
Key Words: Turner syndrome, acute leukemia, phenotype, reproductive history
Klinefelter syndrome (47,XXY) has a prevalence of approximately 1 in 500 males. It is a condition characterized by an extra X chromosome and is an underdiagnosed clinical entity. Inactivation of genes enables their escape from regulatory mechanisms, which can result in such classic physical manifestations as hypogonadism, gynecomastia, infertility, and various hormonal and physical abnormalities. While the endocrine manifestations of 47,XXY are well-known, the oncologic manifestations have received less attention. An association between cancer and 47,XXY has not as yet been clearly defined, with variability noted in the prevalence of different malignancies in 47,XXY patients. The mechanisms underlying these altered oncologic risks are still under debate. Some of the proposed explanations include hormone imbalance, developmental malfunctions, and failed DNA repair mechanisms. However, the recognition of the oncological associations linked to 47,XXY could be helpful. Screening measures in certain malignancies may enable an earlier diagnosis of 47,XXY and the implementation of more customized care in 47,XXY and the mosaic variants.. The data for this review was compiled from relevant PubMed articles published within the last three decades and organized based on cancer type.
