| Full text | |
| Author(s): |
Brassesco, Maria Sol
[1]
;
Valera, Elvis Terci
[2]
;
Meyer, Claus
[3]
;
Marschalek, Rolf
[3]
;
Lopes, Bruno Almeida
[3]
;
de Paula Queiroz, Rosane Gomes
[2]
;
Calado, Rodrigo de Tocantins
[4]
;
Scrideli, Carlos Alberto
[2]
;
Tone, Luiz Gonzaga
[2]
Total Authors: 9
|
| Affiliation: | [1] Univ Sao Paulo, Dept Biol, Fac Philosophy Sci & Letters Ribeirao Preto, Av Bandeirantes 3900, BR-14040901 Ribeirao Preto, SP - Brazil
[2] Univ Sao Paulo, Ribeirao Preto Sch Med, Dept Pediat, Av Bandeirantes 3900, BR-14040900 Ribeirao Preto, SP - Brazil
[3] Goethe Univ, Inst Pharmaceut Biol, DCAL, Max Von Laue Str 9, D-60438 Frankfurt - Germany
[4] Univ Sao Paulo, Ribeirao Preto Sch Med, Dept Clin, Av Bandeirantes 3900, BR-14040900 Ribeirao Preto, SP - Brazil
Total Affiliations: 4
|
| Document type: | Journal article |
| Source: | CANCER GENETICS; v. 228, p. 110-114, DEC 2018. |
| Web of Science Citations: | 0 |
| Abstract | |
We present a case of an infant who developed pro-B acute lymphoblastic leukemia with a rare and complex MLL-translocation. Cytogenetic analysis of bone marrow cells at diagnosis showed a 46,XY,t(X;11)(p11.2;q23){[}13]/46,XY{[}7] karyotype. Fluorescence in situ hybridization analysis using a break apart specific probes showed a split in the MLL gene. Long distance inverse-PCR and next generation sequencing analysis depicted a complex rearrangement t(X;11;17)(p11.2;q23;q12) involving MLL, MLLT6 and the genomic region Xp11.23, 41 bases up-stream of the WDR45 gene. WDR45 encodes a beta-propeller protein essential for autophagocytosis. MLL rearrangements with involvement of Xp have not been previously described. (AU) | |
| FAPESP's process: | 10/15717-0 - Analysis of chromosomal aberrations in childhood cancer through conventional and molecular cytogenetics |
| Grantee: | Elvis Terci Valera |
| Support Opportunities: | Regular Research Grants |
| FAPESP's process: | 15/20142-0 - Dynamic plasmatic detection of the H3.3 mutation status in patients with high-grade astrocytomas (HGA) |
| Grantee: | Elvis Terci Valera |
| Support Opportunities: | Scholarships abroad - Research |