골수성질환에서 단독 염색체 이상으로 19번 삼염색체를 보인 2예 = Two Cases of Trisomy 19 as a Sole Chromosomal Abnormality in Myeloid Disorders

다국어 초록 (Multilingual Abstract)

Trisomy 19 is frequently encountered in cases of chronic myeloid leukemia (CML) as a secondary
abnormality: however, trisomy 19 rarely occurs as a sole chromosomal abnormality and, to date, it
has only been reported in 48 hematopoietic malignancies, 1 case of adenocarcinoma and 1 case
of astrocytic tumor. Here, we report two additional cases of trisomy 19 as a sole karyotypic aberration
in myeloid malignancies. One of these cases involved a 6-month-old male who was diagnosed
with acute myeloid leukemia minimally differentiated. His karyotype was 47,XY,+19[20]. He expired
5 days after diagnosis. Another case occurred in an 80-yr-old female who had refractory anemia
with excess blasts. Her karyotype was 47,XX,+19[16]/46,XX[4]. Four months later, her peripheral
blood smears suggested that the disease had progressed, but she refused further evaluation. Based
on a review of the existing literature and the results of this report, trisomy 19 not only as a secondary
abnormality but also as a sole karyotypic aberration is strongly associated with myeloid disorder;
however, it is not preferentially found in specific FAB subgroups of myelodysplasic syndrome or
acute myeloid leukemia. (Korean J Lab Med 2008;28:174-8)

다국어 초록 (Multilingual Abstract)

Trisomy 19 is frequently encountered in cases of chronic myeloid leukemia (CML) as a secondary
abnormality: however, trisomy 19 rarely occurs as a sole chromosomal abnormality and, to date, it
has only been reported in 48 hematopoietic malignancies, 1 case of adenocarcinoma and 1 case
of astrocytic tumor. Here, we report two additional cases of trisomy 19 as a sole karyotypic aberration
in myeloid malignancies. One of these cases involved a 6-month-old male who was diagnosed
with acute myeloid leukemia minimally differentiated. His karyotype was 47,XY,+19[20]. He expired
5 days after diagnosis. Another case occurred in an 80-yr-old female who had refractory anemia
with excess blasts. Her karyotype was 47,XX,+19[16]/46,XX[4]. Four months later, her peripheral
blood smears suggested that the disease had progressed, but she refused further evaluation. Based
on a review of the existing literature and the results of this report, trisomy 19 not only as a secondary
abnormality but also as a sole karyotypic aberration is strongly associated with myeloid disorder;
however, it is not preferentially found in specific FAB subgroups of myelodysplasic syndrome or
acute myeloid leukemia. (Korean J Lab Med 2008;28:174-8)

참고문헌 (Reference)

1 Langer F, "Up-regulation of DNA methyltransferase DNMT1, 3A, and 3B in myelodysplastic syndrome" 29 : 325-329, 2005

2 Daskalakis M, "Trisomy 19 as the sole chromosome abnormality in proliferative chronic myelomonocytic leukemia" 30 : 1043-1047, 2006

3 Johansson B, "Trisomy 19 as the sole chromosomal anomaly in hematologic neoplasms" 74 : 62-65, 1994

4 "Primary, single, autosomal trisomies associated with haematological disorders. United Kingdom Cancer Cytogenetics Group (UKCCG). Leuk Res 1992;16:841-51"

5 Babic I, "Prenatal diagnosis of complete trisomy 19q" 27 : 644-647, 2007

6 Diez-Martin JL, "Possible cytogenetic distinction between lymphoid and myeloid blast crisis in chronic granulocytic leukemia" 27 : 194-203, 1988

7 Heim S, "Nonrandom chromosome abnormalities in cancer-an overview in; Cancer cytogenetics" Wiley-Liss Inc. 19-32, 1995

8 Mitelman F, "Mitelman database of chromosome aberrations in cancer. http://cgap.nci.nih.gov/ Chromosomes/Mitelman (Updated on Aug 2007)"

9 Daskalakis M, "Demethylation of a hypermethylated P15/INK4B gene in patients with myelodysplastic syndrome by 5-Aza-2’-deoxycytidine(decitabine) treatment" 100 : 2957-2964, 2002

10 Nimer SD, "Chromosome 19 abnormalities are commonly seen in AML, M7" 100 : 3838-, 2002

11 Hartley SE, "Acute leukemia and the same chromosome abnormality in monozygotic twins" 58 : 408-410, 1981