Partial trisomy 8 (8q24) and the trisomy-8 syndrome

1974 ◽  
Vol 23 (4) ◽  
pp. 297-303 ◽  
Author(s):  
Otto S�nchez ◽  
Jorge J. Yunis
Keyword(s):  
Partial Trisomy ◽  
Trisomy 8

Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8

2011 ◽  
Vol 155 (7) ◽  
pp. 1740-1744 ◽  
Author(s):  
Eyby Leon ◽  
Seema M. Jamal ◽  
Ying S. Zou ◽  
Jeff M. Milunsky
Keyword(s):  
Partial Trisomy ◽  
Chromosome 8 ◽  
Trisomy 8

Partial trisomy 8: Trisomy of the distal part of the long arm of chromosome number 8+(8q2) in a severely retarded and malformed girl

1974 ◽  
Vol 24 (3) ◽  
Author(s):  
J.P. Fryns ◽  
H. Verresen ◽  
H. Berghe ◽  
J. Kerckvoorde ◽  
J.J. Cassiman
Keyword(s):  
Chromosome Number ◽  
Distal Part ◽  
Partial Trisomy ◽  
Trisomy 8

Clinical and Genetic Features of Constitutional Partial Trisomy 8 Mosaicism (CT8M) Patients with Cytopenia

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 5413-5413
Author(s):  
Yuta Yamada ◽  
Noriko Doki ◽  
Yuka Harada ◽  
Yuki Otsuka ◽  
Ryosuke Konuma ◽  
...  
Keyword(s):  
Mononuclear Cells ◽  
Conflicts Of Interest ◽  
Gene Mutations ◽  
Partial Trisomy ◽  
Initial Diagnosis ◽  
Red Blood Cell Transfusion ◽  
Occurrence Rate ◽  
Driver Gene ◽  
Trisomy 8 ◽  
Genetic Features

Background Constitutional partial trisomy 8 mosaicism (CT8M) is a congenital chromosomal abnormality with an estimated occurrence rate as one out of 25,000-50,000 pregnancies. CT8M has a wide variability in physical manifestation ranging from apparently normal to severe disablement. However, diagnosis of CT8M in adult without physical abnormality is difficult . Acquired trisomy 8, which is restricted to the malignant cells, is one of the most common chromosomal abnormalities in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), and clinical implication of carrying isolated trisomy 8 is considered as intermediate cytogenetic risk in MDS. However, isolated trisomy 8 without morphological dysplastic features is not definitive evidence for MDS. 15 to 20% of trisomy 8 in MDS are supposed to be derived from CT8M. We therefore diagnosed CT8M patients among patients with cytopenia and analyzed clinical and genetic features to uncover the association with MDS. Methods . Clinical features including cytogenetic analysis were analyzed regularly. Genomic DNA was extracted from whole PB cells or BM mononuclear cells. We performed targeted next-generation sequencing to identify mutations in 68 driver genes of myeloid neoplasms using AmpliSeq for Illumina Myeloid Panel and On-Demand Panel on the MiniSeq system (Illumina). Gene variants were detected by in-house analysis pipeline. The study was approved by the institutional review board and patients gave written informed consent for the study. Results We identified nine CT8M patients with cytopenia.They comprised 3 males and 6 females at a median age of 56 years (range 24-84 years) (Table). All the patients carried no physical abnormality nor conspicuous phenotypic features. Four patients (Patient #3, #4, #6 and #7) did not show apparent morphological dysplasia at the initial BM examination, and they were not diagnosed as MDS. Their cytopenia has not been exacerbated until now without any treatment, and the duration of stable cytopenia was from 2 to 12 years in these patients. By contrast, five patients with CT8M were diagnosed as MDS . Two patients (#5 and #8) were diagnosed as MDS-single lineage dysplasia (SLD), and their cytopenia has not become worse without any treatment for about 4 years. Other three patients diagnosed as MDS-multilineage dysplasia (MLD) showed various clinical courses. Patient #1 was treated with azacitidine and maintains complete hematological improvement after 34 courses of the treatment. Patient #2 was treated with erythropoietin stimulating agent and azacytidine but developed to AML 3 years after initial diagnosis but leukemic blasts has del(20), not +8. Patient #9 developed advanced pancytopenia in 3 months from initial diagnosis and received red blood cell transfusion regularly. Gene mutations were detected in five out of nine patients with CT8M. In three patients, gene mutations were detected at high (20 to 50%) variant allele frequency (VAF). Patient #2 who was analyzed at the AML phase had gene mutations of SRSF2, SF3B1, STAG2 and NOTCH1. BM sample from patient #9 showed ASXL1 mutation and two TET2 mutations. Patient #4 who did not show apparent myelodysplasia had a high VAF ASXL1 mutation, indicating clonal idiopathic cytopenias of undetermined significance. Two patients had low (2 to 5%) VAF mutations; patient #1 was analyzed after 34 courses of azacitidine had a TET2 mutation; patient #5 with MDS-SLD had a WT1 mutation and two PHF6 mutations. Four patients (#3, #6, #7 and #8) did not have any mutations. The clinical and genetic features showed that CT8M with cytopenia without MDS-related mutations were under 56 years old and did not develop to MDS or stayed at MDS-SLD. Patients with low VAF mutations were also stable. By contrast, patients with advanced diseases gained multiple MDS-related gene mutations with high VAF. One patient without dysplasia had a high VAF ASXL1 mutation. All the patients with gene mutations were age of 56 to 84 years. Conclusion Our results indicated that isolated trisomy 8 may cause cytopenia, but the cytopenia is not exacerbated without MDS-related driver gene mutations. CT8M patients with cytopenia might get gene mutations gradually with age, which leads to MDS or AML. Disclosures No relevant conflicts of interest to declare.

Optic Disc Coloboma and Localized Chorioretinal Defects in Constitutional Partial Trisomy 8 Mosaicism

2006 ◽  
Vol 27 (3) ◽  
pp. 103-105 ◽  
Author(s):  
Mehryar Taban ◽  
Andreas Marcotty ◽  
Elias I. Traboulsi
Keyword(s):  
Optic Disc ◽  
Partial Trisomy ◽  
Trisomy 8 ◽  
Optic Disc Coloboma

scholarly journals Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8

2018 ◽  
Vol 38 (1) ◽  
pp. 63-66 ◽  
Author(s):  
Mariana T. De Souza ◽  
Gabriela Vera-Lozada ◽  
Moneeb Othman ◽  
Teresinha J. Marques-Salles ◽  
Luciana W. Pinto ◽  
...  
Keyword(s):  
Burkitt Lymphoma ◽  
Ataxia Telangiectasia ◽  
Partial Trisomy ◽  
Trisomy 8 ◽  
Cytogenetic Studies

Mosaic ring chromosome 8: Clinical and array-CGH findings in partial trisomy 8

2008 ◽  
Vol 146A (21) ◽  
pp. 2837-2841 ◽  
Author(s):  
Isabel Filges ◽  
Benno Röthlisberger ◽  
Friedel Wenzel ◽  
Karl Heinimann ◽  
Andreas R. Huber ◽  
...  
Keyword(s):  
Array Cgh ◽  
Ring Chromosome ◽  
Partial Trisomy ◽  
Chromosome 8 ◽  
Trisomy 8

Complete and partial trisomy 8

2008 ◽  
Vol 18 (4) ◽  
pp. 314-314
Author(s):  
A. Schinzel
Keyword(s):  
Partial Trisomy ◽  
Trisomy 8

scholarly journals Partial trisomy 8 (trisomy 8q2106 leads to 8qter).

1977 ◽  
Vol 14 (6) ◽  
pp. 463-466 ◽  
Author(s):  
D Abuelo ◽  
D P Perl ◽  
C Henkle ◽  
A Richardson
Keyword(s):  
Partial Trisomy ◽  
Trisomy 8
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