 |
 |
GEO help: Mouse over screen elements for information. |
|
| Status |
Public on Jun 16, 2021 |
| Title |
Hypodiploidy in a pediatric patient of T-cell acute lymphoblastic leukemia: a case report |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by genome tiling array
Genome variation profiling by SNP array
|
| Summary |
We report clinical and genetic findings of a 14-year-old male with T-cell acute lymphoblastic leukemia with low-hypodiploidy. The medical history included neck pain for a month, facial nerve palsy on the right side for 6 days, fever, drowsiness, and weakness for 3 days, vomiting, diarrhea for 1 day. The physical examination presented features of hypovolemia, palsy of the facial nerve on the right side, enlarged lymph nodes, hepatosplenomegaly, sore throat, and petechiae of the skin. Radiological images indicated lesions of different organs. Bone marrow biopsy confirmed precursor T-ALL. In the FISH tests, KMT2A and BCR/ABL1 rearrangements were not observed. GTG banding revealed 3 cell clones, which confirmed the hypodiploidy. Multiplex RT-qPCR was performed. STIL/TAL1 (del1p32) gene rearrangement was found in the blast cells. Additional tests were performed using the CytoScan HD microarray technique. Molecular karyotype did not reveal hypodiploidy, but identified other abnormalities such as duplication of chromosomal regions: 4q25q35.2, 6p23.3p11.1 and 8p23.3q24.21, and the loss of heterozygosity of short arm chromosome 9. In two regions of the chromosome biallelic deletions were found at 9p21.3, including the CDKN2A, CDKN2B, IFNA1, MTAP genes and at 10q23.31, containing PTEN. The child died 9 days after diagnosis. Bone marrow biopsy, GTG banding, FISH techniques, and molecular karyotyping were used to make an accurate diagnosis. This case documents a rapid progression of the disease and unfavorable results of T-cell acute lymphoblastic leukemia with hypodiploidy.
|
| |
|
| Overall design |
In this study we report the case of a 14-year-old male with T-cell acute lymphoblastic leukemia with low-hypodiploidy. Multiplex RT-qPCR and CytoScan HD microarray technique were performed. STIL/TAL1 (del1p32) gene rearrangement was found in the blast cells. Molecular karyotype did not reveal hypodiploidy, but identified other abnormalities such as duplication of chromosomal regions: 4q25q35.2, 6p23.3p11.1 and 8p23.3q24.21, and the loss of heterozygosity of short arm chromosome 9. In two regions of the chromosome biallelic deletions were found at 9p21.3, including the CDKN2A, CDKN2B, IFNA1, MTAP genes and at 10q23.31, containing PTEN. Bone marrow biopsy, GTG banding, FISH techniques, and molecular karyotyping were used to make an accurate diagnosis.
|
| |
|
| Contributor(s) |
Stefaniak M, Lejman M |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Jun 15, 2021 |
| Last update date |
Jun 19, 2021 |
| Contact name |
Martyna Stefaniak |
| E-mail(s) |
martynastefaniakk@gmail.com
|
| Organization name |
Medical University of Lublin
|
| Department |
Laboratory of Genetics Diagnostics
|
| Street address |
Antoniego Gębali 6
|
| City |
Lublin |
| ZIP/Postal code |
20-093 |
| Country |
Poland |
| |
|
| Platforms (1) |
| GPL16131 |
[CytoScanHD_Array] Affymetrix CytoScan HD Array |
|
| Samples (1) |
|
| Relations |
| BioProject |
PRJNA738155 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE178261_RAW.tar |
220.0 Mb |
(http)(custom) |
TAR (of CEL, CYCHP, TXT) |
| Processed data included within Sample table |
| Processed data provided as supplementary file |
|
|
|
|
 |
