Chronic myelogenous leukemia and Klinefelter's syndrome

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 presence of Philadelphia chromosome. The patient was treated with oral imatinib mesylate (400 mg/day). Complete hematological response was achieved after 2 months of therapy. The bcr-abl/abl transcript percentage measured from peripheral blood at baseline, 1 and 2 years after imatinib were 97%, 1.99%, 0.007%, respectively. He remains in complete hematological and major molecular remission after 2 years of continued imatinib therapy.

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“…[491011] In all these cases the KS was incidentally detected during the routine cytogenetic evaluation for CML. Oguma et al .…”

Section: Discussionmentioning

confidence: 99%

“…Oguma et al . [10] in their study have reported a 2-year old CML patient who had KS. The cytogenetic analysis showed that the Ph chromosome occurred monoclonally in the XXY cells but not in XY cells.…”

Section: Discussionmentioning

confidence: 99%

Chronic myeloid leukemia in case of Klinefelter syndrome

et al. 2014

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“…Un certain nombre de facteurs génétiques et environnementaux associés à un risque accru de développer des leucémies est incriminé. D'après Muts et al le phénotype myéloïde prédomine au cours du SK, comme dans le cas de notre patient, mais d'autres hémopathies malignes peuvent être observées [3,9], telles les leucémies aiguës lymphoblastiques [10], les syndromes lymphoprolifératifs [11] ou myéloprolifératifs [12]. L'association entre le SK et les leucémies aiguës a été décrite dans la littérature [7,8].…”

Section: Discussionunclassified

Syndrome de Klinefelter révélé par une leucémie aiguë myéloblastique

Bellâaj

Sandi²,

Kammoun

et al. 2009

La Presse Médicale

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Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15–20% of cases

Maserati

Aprili²,

Vinante

et al. 2001

Genes Chromosomes & Cancer

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The trisomy 8 found in malignancies may derive from a constitutional trisomy 8 mosaicism (CT8M), and in these cases the trisomy itself may be regarded as the first mutation in a multistep carcinogenetic process. To assess the frequency of CT8M in hematological dysplastic and neoplastic disorders with trisomy 8, an informative sample of 14 patients was collected. The data ascertained included chromosome analyses of fibroblast cultures and of PHA-stimulated blood cultures in patients with normal blood differential count, as well as possible CT8M clinical signs. One patient showed trisomy 8 in all cell types analyzed and undoubtedly has a CT8M; a second patient consistently showed trisomy 8 in PHA-stimulated blood cultures when no immature myeloid cells were present in blood and should be considered as having CT8M; a third patient, with Philadelphia-positive chronic myelocytic leukemia, was more difficult to interpret, but the possibility that she had CT8M is likely. A few clinical signs of CT8M were also present in these three patients. Our data indicate that the frequency of CT8M in hematological dysplastic and neoplastic disorders with trisomy 8 is approximately 15-20%.

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Chronic myelogenous leukemia and Klinefelter's syndrome

Abstract: A case of chronic myelogenous leukemia with Klinefelter's syndrome mosaicism in a 27‐yr‐old male is reported. Cytogenetic analysis provided evidence that the Philadelphia chromosome occurred monoclonally in the XXY cells but not in the XY cells.

Cited by 11 publications

References 5 publications

Chronic myeloid leukemia in case of Klinefelter syndrome

Chronic myeloid leukemia in case of Klinefelter syndrome

Syndrome de Klinefelter révélé par une leucémie aiguë myéloblastique

Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15–20% of cases

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