Acute myeloid leukemia with KMT2A-SEPT5 translocation: A case report and review of the literature

被引：5

作者：

Elzamly, Shaimaa ^{[1
]}

Chavali, Santosh ^{[2
]}

Tonk, Vijay ^{[2
]}

Tonk, Sahil ^{[2
]}

Gaur, Sumit ^{[3
]}

Tarango, Darlene ^{[4
]}

Torabi, Alireza ^{[4
]}

机构：

[1] Benha Univ, Fac Med, Pathol Dept, Al Sahaa St,Diverted Farid Nada St, Banha 13518, Egypt

[2] Texas Tech Univ, Hlth Sci Ctr, Dept Pediat, Lubbock, TX 79430 USA

[3] Texas Tech Univ, Hlth Sci Ctr, Dept Internal Med, El Paso, TX USA

[4] Texas Tech Univ, Hlth Sci Ctr, Dept Pathol, El Paso, TX USA

来源：

SAGE OPEN MEDICAL CASE REPORTS | 2018年 / 6卷

关键词：

Acute myeloid leukemia; KMT2A; SEPT5;

D O I：

10.1177/2050313X17750334

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Chromosomal rearrangement involving the KMT2A gene is one of the most common genetic alteration in acute myeloid leukemia. A total of 135 different KMT2A rearrangements have been identified, where 94 translocation partner genes are now characterized at the molecular level. Of these 94 translocation partner genes, 35 translocation partner genes occur recurrently, but only 9 specific gene fusions account for more than 90% of cases. Translocation of KMT2A with SEPT5 gene at 22q11.2 is rare, with few reported cases in the literature. In this report, we are presenting a case of KMT2A-SEPT5 fusion in de novo acute myeloid leukemia with t(11;22)(q23;q11.2) with a review of the literature.

引用

页数：5

共 26 条

[1] The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia
Arber, Daniel A.
Orazi, Attilio
Hasserjian, Robert
Thiele, Jurgen
Borowitz, Michael J.
Le Beau, Michelle M.
Bloomfield, Clara D.
Cazzola, Mario
Vardiman, James W.
[J]. BLOOD, 2016, 127 (20) : 2391 - 2405
[2] Biological and therapeutic aspects of infant leukemia
Biondi, A
Cimino, G
Pieters, R
Pui, CH
[J]. BLOOD, 2000, 96 (01) : 24 - 33
[3] Altered expression of the septin gene, SEPT9, in ovarian neoplasia
Burrows, JF
Chanduloy, S
McIlhatton, MA
Nagar, H
Yeates, K
Donaghy, P
Price, J
Godwin, AK
Johnston, PG
Russell, SHE
[J]. JOURNAL OF PATHOLOGY, 2003, 201 (04) : 581 - 588
[4] SEPT2 is a new fusion partner of MLL in acute myeloid leukemia with t(2;11)(q37;q23)
Cerveira, N.
Correia, C.
Bizarro, S.
Pinto, C.
Lisboa, S.
Mariz, J. M.
Marques, M.
Teixeira, M. R.
[J]. ONCOGENE, 2006, 25 (45) : 6147 - 6152
[5] MLL-SEPTIN gene fusions in hematological malignancies
Cerveira, Nuno
Bizarro, Susana
Teixeira, Manuel R.
[J]. BIOLOGICAL CHEMISTRY, 2011, 392 (8-9) : 713 - 724
[6] Cytocell, DS083CEV007002014031
[7] Complex and cryptic chromosomal rearrangements involving the MLL gene in acute leukemia: A study of 7 patients and review of the literature
De Braekeleer, Etienne
Meyer, Claus
Douet-Guilbert, Nathalie
Morel, Frederic
Le Bris, Marie-Josee
Berthou, Christian
Arnaud, Bertrand
Marschalek, Rolf
Ferec, Claude
De Braekeleer, Marc
[J]. BLOOD CELLS MOLECULES AND DISEASES, 2010, 44 (04) : 268 - 274
[8] Mixed lineage leukemia-septin 5 fusion transcript in de novo adult acute myeloid leukemia with t(11;22)(q23;q11.2): A case report
Gao, Wen
Wang, Tong
Wu, Yin
Liu, Hong Xing
Li, Yan Chen
Chen, Wen Ming
[J]. ONCOLOGY LETTERS, 2014, 7 (06) : 1930 - 1932
[9] The pathobiology of the septin gene family
Hall, PA
Russell, SEH
[J]. JOURNAL OF PATHOLOGY, 2004, 204 (04) : 489 - 505
[10] Association of the cytoskeletal GTP-binding protein Sept4/H5 with cytoplasmic inclusions found in Parkinson's disease and other synucleinopathies
Ihara, M
Tomimoto, H
Kitayama, H
Morioka, Y
Akiguchi, I
Shibasaki, H
Noda, M
Kinoshita, M
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (26) : 24095 - 24102

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