Clonal evolution from trisomy into tetrasomy of chromosome 8 associated with the development of acute myeloid leukemia from myelodysplastic syndrome

Kameoka, Junichi; Funato, Tadao; Obara, Yasuhiko; Kadowaki, Ikuko; Yokoyama, Hisayuki; Kimura, Toshihide; Tomiya, Yasuo; Yamada, Minami; Ishikawa, Izumi; Takagawa, Masanori; Sasaki, Osamu; Kimura, Jun; Harigae, Hideo; Miura, Ikuo; Meguro, Kuniaki; Kaku, Mitsuo; Sasaki, Takeshi

doi:10.1016/s0165-4608(00)00347-2

Cited by 13 publications

(9 citation statements)

References 24 publications

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“…Although trisomy 8 is a common chromosomal abnormality in AML and MDS, tetrasomy 8 is very rare [7][8][9][10]. Trisomy 8 was undetectable with conventional cytogenetics in most of the reported cases [4].…”

Section: Discussionmentioning

confidence: 95%

Tetrasomy 8 in a Patient with Acute Monoblastic Leukemia

et al. 2008

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Tetrasomy 8 is a rare chromosomal abnormality observed in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) [1,2]. Only 17 reported AML cases with isolated tetrasomy 8 have been documented, with all AML subtypes in French American British (FAB) classification being reported at least once [1]. Recently, it has been considered as a poor prognostic factor and showed short survival [3,4]. Here, we describe a patient with acute monoblastic leukemia having tetrasomy 8 and a very aggressive disease course, and review the previous reports. To the best of our knowledge, this is the first report of tetrasomy 8 in hematological malignancies in Korea. CASE REPORT

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Section: Discussionmentioning

confidence: 95%

Tetrasomy 8 in a Patient with Acute Monoblastic Leukemia

et al. 2008

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“…Whatever the exact mechanisms are, the pathologic cells in MDS have a significant tendency to undergo clonal evolution and transformation to AML after a variable latency period. Clonal evolution in MDS can also be associated with acquisition of structural and numerical changes of chromosomes [4,[30][31][32][33][34]66]. Thus, patients with MDS often acquire (additional) karyotype abnormalities during disease progression [30][31][32][33][34]66].…”

Section: Pathogenesis Of Mdsmentioning

confidence: 99%

“…Clonal evolution in MDS can also be associated with acquisition of structural and numerical changes of chromosomes [4,[30][31][32][33][34]66]. Thus, patients with MDS often acquire (additional) karyotype abnormalities during disease progression [30][31][32][33][34]66]. Similarly, a complex karyotype (≥ 3 chromosome abnormalities) is considered to be reflective of multiple genetic hits and events (accumulated over a longer time period) in MDS and a higher risk to transform to secondary leukemia [30][31][32][33][34].…”

Section: Pathogenesis Of Mdsmentioning

confidence: 99%

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Pathogenesis, classification, and treatment of myelodysplastic syndromes (MDS)

Valent

Wimazal

Schwarzinger

et al. 2003

Wien Klin Wochenschr

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Myelodysplastic syndromes (MDS) comprise a heterogeneous group of clonal myeloid disorders characterized by morphologic dysplasia in one or more cell lineages. Dysplasia in MDS is associated with insufficient production of blood cells and consecutive cytopenia(s). The natural course and prognosis of MDS vary among patients and depend on genetic defects that occur during clonal evolution. In a significant group of patients (roughly 30%) progression to secondary leukemia is observed. These patients appear to have a grave prognosis. The treatment of patients with MDS has to be adjusted to the individual situation and age in each case. In many patients, control of blast cell production by palliative cytoreduction, continuous support with red blood cells, as well as other supportive measures, seem appropriate. In other patients, however, curative therapy (chemotherapy, stem cell transplantation) should be considered. The final decision to offer curative therapy must be based on many different factors including age and the overall situation of the patient. Recently established scoring systems aimed at predicting survival and evolution of leukemia in MDS may be helpful in this regard.

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“…In contrast, tetrasomy 8 is relatively rare and reported in a few cases in AML, only [5-9]. Tetrasomy 8 seems to be associated with poor prognosis [5,8].…”

Section: Introductionmentioning

confidence: 99%

A case of acute myeloid leukemia (AML) with an unreported combination of chromosomal abnormalities: gain of isochromosome 5p, tetrasomy 8 and unbalanced translocation der(19)t(17;19)(q23;p13)

et al. 2013

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BackgroundAcute myeloid leukemia (AML) comprises a spectrum of myeloid malignancies which are often associated with distinct chromosomal abnormalities, and the analysis of such abnormalities provides us with important information for disease classification, treatment selection and prognosis. Some chromosomal abnormalities albeit recurrent are rare such as tetrasomy 8 or isochromosome 5p. In addition, erratic chromosomal rearrangements may occur in AML, sometimes unbalanced and also accompanied by other abnormalities. Knowledge on the contribution of rare abnormalities to AML disease, progression and prognosis is limited.Here we report a unique case of acute monoblastic leukemia with gain of i(5)(p10), tetrasomy 8, an unbalanced translocation der(19)t(17;19)(q23;p13.3) and mutated NPM1.ResultsBone marrow cells were examined by conventional karyotyping, fluorescence in situ hybridization (FISH) and mutation analysis at diagnosis and follow-up. At diagnosis we detected trisomy 8, an unbalanced translocation der(19)t(17;19)(q23;p13.3) and mutated NPM1. During the course of the disease we observed clonal evolution with gain of i(5)(p10), tetrasomy 8 and eventually duplication of der(19)t(17;19)(q23;p13.3). By using the der(19)t(17;19) as clonal marker, we found that i(5)(p10) and tetrasomy 8 were secondary genetic events and that tetrasomy 8 had clonally evolved from trisomy 8.ConclusionsThis case of acute monoblastic leukemia presents a combination of rare chromosomal abnormalities including the unbalanced translocation der(19)t(17;19)(q23;p13.3), hitherto un-reported in AML. In addition, our case supports the hypothesis of a step-wise clonal evolution from trisomy 8 to tetrasomy 8 in AML. Reporting and collecting data of rare chromosomal abnormalities will add information to AML disease, progression and prognosis, and may eventually translate to improved patient management.

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Clonal evolution from trisomy into tetrasomy of chromosome 8 associated with the development of acute myeloid leukemia from myelodysplastic syndrome

Cited by 13 publications

References 24 publications

Tetrasomy 8 in a Patient with Acute Monoblastic Leukemia

Tetrasomy 8 in a Patient with Acute Monoblastic Leukemia

Pathogenesis, classification, and treatment of myelodysplastic syndromes (MDS)

A case of acute myeloid leukemia (AML) with an unreported combination of chromosomal abnormalities: gain of isochromosome 5p, tetrasomy 8 and unbalanced translocation der(19)t(17;19)(q23;p13)

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