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

被引：2

作者：

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
]}

机构：

[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

来源：

CANCER GENETICS | 2018年 / 228卷

基金：

巴西圣保罗研究基金会;

关键词：

MLL; pro-B ALL; Complex translocation; Chromosome X; WDR45; ACUTE LYMPHOBLASTIC-LEUKEMIA; HISTONE METHYLTRANSFERASE; STATIC ENCEPHALOPATHY; MLL RECOMBINOME; AUTOPHAGY; GENE; PROTEINS; CHILDHOOD; NEURODEGENERATION; IDENTIFICATION;

D O I：

10.1016/j.cancergen.2018.10.006

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：110 / 114

页数：5

共 50 条

[1] A novel reciprocal (10;17)(p11.2;q23) in myxoid fibrosarcoma
Sawyer, JR
Binz, RL
Gilliland, JC
Nicholas, RW
Thomas, JR
CANCER GENETICS AND CYTOGENETICS, 2001, 124 (02) : 144 - 146
[2] A new case of t(11;17)(q23;q21) with MLL rearrangement
Dal Cin, P
Sherman, L
Marzelli, M
McLaughlin, C
Zukerberg, L
Amrein, PC
CANCER GENETICS AND CYTOGENETICS, 2004, 148 (02) : 178 - 179
[3] Involvement of the MLL and RARα genes in a patient with acute monocytic leukemia with t(11;17)(q23;q12)
Shekhter-Levin, S
Gollin, SM
Kaplan, SS
Redner, RL
LEUKEMIA, 2000, 14 (03) : 520 - 522
[4] Involvement of the MLL and RARA genes in a patient with acute monocytic leukemia with t(11;17) (q23;q12).
Redner, RL
Gollin, SM
Kaplan, SS
Shekhter-Levin, S
BLOOD, 1999, 94 (10) : 179B - 179B
[5] Involvement of the MLL and RARα genes in a patient with acute monocytic leukemia with t(11;17)(q23;q12)
S Shekhter-Levin
SM Gollin
SS Kaplan
RL Redner
Leukemia, 2000, 14 : 520 - 522
[6] A novel CLTC-TFE3 gene fusion in pediatric renal adenocarcinoma with t(X;17)(p11.2;q23)
Pedram Argani
Man Yee Lui
Jérôme Couturier
Raymonde Bouvier
Jean-Christophe Fournet
Marc Ladanyi
Oncogene, 2003, 22 : 5374 - 5378
[7] A novel CLTC-TFE3 gene fusion in pediatric renal adenocarcinoma with t(X;17)(p11.2;q23)
Argani, P
Lui, MY
Couturier, J
Bouvier, R
Fournet, JC
Ladanyi, M
ONCOGENE, 2003, 22 (34) : 5374 - 5378
[8] Translocation (9;11;22)(p22;q23;q11) - A new type of complex variant translocation of t(9;11)(p22;q23) with MLL rearrangement
Takahashi, N
Miura, I
Ohshima, A
Nimura, T
Hashimoto, K
Hatano, Y
Utsumi, S
Kume, M
Saito, K
Kobayashi, Y
Saito, M
Seto, M
Ueda, R
Miura, AB
CANCER GENETICS AND CYTOGENETICS, 1996, 88 (01) : 26 - 29
[9] Cloning of a novel CLTC-TFE3 gene fusion in pediatric renal adenocarcinoma with t(X;17)(p11.2;q23)
Argani, P
Lui, MY
Couturier, J
Bouvier, R
Fournet, JC
Ladanyi, M
MODERN PATHOLOGY, 2003, 16 (01) : 300A - 301A
[10] Cloning of a novel CLTC-TFE3 gene fusion in pediatric renal adenocarcinoma with t(X;17)(p11.2;q23)
Argani, P
Lui, MY
Couturier, J
Bouvier, R
Fournet, JC
Ladanyi, M
LABORATORY INVESTIGATION, 2003, 83 (01) : 300A - 301A

← 1 2 3 4 5 →