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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

A new complex rearrangement in infant ALL:t(X;11;17)(p11.2;q23;q12)

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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
[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

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