1.Two Cases of Trisomy 19 as a Sole Chromosomal Abnormality in Myeloid Disorders.
Soon IL JUNG ; Hee Soon CHO ; Chae Hoon LEE ; Kyong Dong KIM ; Jung Ok HA ; Min Kyoung KIM ; Kyung Hee LEE ; Myung Soo HYUN
The Korean Journal of Laboratory Medicine 2008;28(3):174-178
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.
Acute Disease
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Aged, 80 and over
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Anemia, Refractory/*diagnosis/*genetics
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*Chromosomes, Human, Pair 19
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Female
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Humans
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Infant
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Karyotyping
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Leukemia, Myeloid/*diagnosis/*genetics
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Male
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*Trisomy
2.Clinical and cytogenetic study of chromosome 1 abnormality in myelodysplastic syndrome.
Wei WANG ; Zhimei CHEN ; Mengxia YU ; Huanping WANG ; Jiyu LOU ; Huan XU ; Chao HU ; Qitian MU ; Hongyan TONG ; Juying WEI ; Xinping ZHOU ; Jie JIN
Chinese Journal of Hematology 2015;36(10):818-823
OBJECTIVETo explore the incidence of chromosome 1 abnormality in myelodysplastic syndrome(MDS)to couple its association with clinical presentation and prognosis.
METHODSR- band karyotype analyses were performed in 672 cases of MDS between 2010 and 2013. Clinical data of those with abnormal chromosome l were collected and then analyzed factors affecting the prognosis.
RESULTSOf 672 cases of patients with MDS, chromosome 1 aberration[der(1), dup(1), -1 were most frequent] were found in 41(6.1%)cases. 1q trisomy was found in 18/41(43.9%)cases, and the most common patterns were duplication of the long arm as well as unbalanced translocation with other chromosomes. Of 41 patients with chromosomal 1 abnormality, 32 cases were accompanied with other chromosomal aberration, usually involving 3 or more abnormal chromosomal karyotypes, e.g., chromosome 8, 7 abnormalities. According to IPSS-R scoring system, 19 patients were diagnosed with very high risk, 10 patients high risk, 10 patients intermediate risk and 2 patients low risk MDS. 9 patients transformed into acute leukemia with median transforming time of 7.18(0.56-54.28)months. Median survival of 36 cases after 2010 was 17.48(95% CI 14.38-20.58)months. There were significant differences on median survival between RAEB and non-RAEB groups(χ²=10.398, P=0.001), and between with more than 3 chromosome abnormalities and with less than 3 groups(χ²=3.939, P=0.047). RAEB was identified as an independent risk factor for the prognosis of MDS with chromosome 1 abnormality.
CONCLUSIONChromosome 1 aberration was not rare in MDS. 1q trisomy was the most common abnormal karyotype in China, which often accompanied with other chromosomal abnormalities. The prognosis of MDS patients with chromosome 1 abnormality was poor, especially worse in those diagnosed with RAEB-1, RAEB-2 and with more than 3 chromosome abnormality. For patients whose percentage of bone marrow blasts less than 5%, the prognosis of patients with 1q trisomy was better than those without 1q trisomy. RAEB was identified as an independent risk factor for the prognosis of MDS with chromosome 1 abnormality.
Abnormal Karyotype ; Acute Disease ; Anemia, Refractory, with Excess of Blasts ; Bone Marrow ; China ; Chromosome Aberrations ; Chromosome Banding ; Chromosomes, Human, Pair 1 ; genetics ; Humans ; Karyotyping ; Leukemia ; diagnosis ; genetics ; Myelodysplastic Syndromes ; diagnosis ; genetics ; Prognosis ; Risk Factors ; Trisomy