Emergence of two unrelated clones in acute myeloid leukemia with MLL-SEPT9 fusion transcript

Saito, Hajime; Otsubo, Kaori; Kakimoto, Atsushi; Komatsu, Norio; Ohsaka, Akimichi

doi:10.1016/j.cancergencyto.2010.05.016

Cited by 10 publications

(7 citation statements)

References 21 publications

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“…However, as shown in table 1, MLL - SEPT9 transcripts at the molecular level have been reported in 14 cases of AML and MDS to date [2,3,6,8,9,10,11,12,13,14], including the present patient. Although the data are limited, all cases with the MLL - SEPT9 rearrangement involved myeloid neoplasms (13 AML and 1 MDS) (table 1), suggesting that the MLL-SEPT9 fusion is predominantly associated with AML/MDS [8].…”

Section: Introductionmentioning

confidence: 94%

De novo Acute Myeloid Leukemia Associated with t(11;17)(q23;q25) and MLL-SEPT9 Rearrangement in an Elderly Patient: A Case Study and Review of the Literature

Lee

Park²,

Oh³

et al. 2011

Acta Haematol

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Section: Introductionmentioning

confidence: 94%

De novo Acute Myeloid Leukemia Associated with t(11;17)(q23;q25) and MLL-SEPT9 Rearrangement in an Elderly Patient: A Case Study and Review of the Literature

Lee

Park²,

Oh³

et al. 2011

Acta Haematol

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“…The MLL-SEPT9 fusion, resulting from a translocation between 11q23 and 17q25, has been described to date in 12 cases (Table 1, Figure 1) (Osaka et al, 1999;Taki et al, 1999;Yamamoto et al, 2002;Shih et al, 2006;Kreuziger et al, 2007;Kurosu et al, 2008;Saito et al, 2010;Santos et al, 2010b). As opposed to other cases with MLL-SEPTIN fusions, MLL-SEPT9 patients are very heterogeneous regarding both age (4 months-72 years) and clinical presentation: one MDS case, two t-AML cases and nine cases of de novo AML.…”

Section: The Mll-sept9 Gene Fusionmentioning

confidence: 99%

“…When considered as a whole, the incidence of monocytic features in MLL-SEP-TIN cases is 54% (14 out of 26 FAB-typed cases). The incidence is higher in the MLL-SEPT9 group (75%, 6 out of 8 cases) but lower in the MLL-SEPT6 group (50%, 6 out of 12 cases) (Table 1) (Osaka et al, 1999;Taki et al, 1999;Borkhardt et al, 2001;Ono et al, 2002;Slater et al, 2002;Yamamoto et al, 2002;Fu et al, 2003;Kim et al, 2003;Kadkol et al, 2006;Shih et al, 2006;Strehl et al, 2006;Kreuziger et al, 2007;Cerveira et al, 2008a;Kurosu et al, 2008;De Braekeleer et al, 2010;Saito et al, 2010;Santos et al, 2010b). An interesting finding is the association of a particular MLL-SEPTIN fusion with specific patient characteristics.…”

Section: Clinical Characteristics Of Mll-septin Leukemiamentioning

confidence: 99%

MLL-SEPTIN gene fusions in hematological malignancies

Cerveira

Bizarro

Teixeira³

2011

BCHM

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The mixed lineage leukemia (MLL) locus is involved in more than 60 different rearrangements with a remarkably diverse group of fusion partners in approximately 10% of human leukemias. MLL rearrangements include chromosomal translocations, gene internal duplications, chromosome 11q deletions or inversions and MLL gene insertions into other chromosomes, or vice versa. MLL fusion partners can be classified into four distinct categories: nuclear proteins, cytoplasmatic proteins, histone acetyltransferases and septins. Five different septin genes (SEPT2, SEPT5, SEPT6, SEPT9, and SEPT11) have been identified as MLL fusion partners, giving rise to chimeric fusion proteins in which the N terminus of MLL is fused, in frame, to almost the entire open reading frame of the septin partner gene. The rearranged alleles result from heterogeneous breaks in distinct introns of both MLL and its septin fusion partner, originating distinct gene fusion variants. MLL-SEPTIN rearrangements have been repeatedly identified in de novo and therapy related myeloid neoplasia in both children and adults, and some clinicopathogenetic associations are being uncovered. The fundamental roles of septins in cytokinesis, membrane remodeling and compartmentalization can provide some clues on how abnormalities in the septin cytoskeleton and MLL deregulation could be involved in the pathogenesis of hematological malignancies.

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“…Gene fusion AML (Ono et al, 2002;Kadkol et al, 2006;Cerveira et al, 2008) Melanoma (Jaeger et al, 2007) SEPT7 Downregulation Glioma (Nagata et al, 2000;Jiang, 2002;Jiang, 2004;Jia et al, 2010;Tanaka et al, 2010) SEPT8 None None None SEPT9 Amplification/ Breast (Montagna et al, 2003;Scott et al, 2005;overexpression Gonzalez et al, 2007overexpression Gonzalez et al, , 2009) Upregulation Ovary Gene fusion AML, ALL (Strehl et al, 2006;Gulten et al, 2009;Saito et al, 2010) (Santos et al, 2010a,b) (Osaka et al, 1999;Yamamoto et al, 2002;Strehl et al, 2006;Kreuziger et al, 2007) Hypermethylation Colon and head and neck (He et al, 2010;Tierling et al, 2010;Quyun et al, 2010) (Grutzmann et al, 2008;deVos et al, 2009) (Bennett et al, 2008;Lofton-Day et al, 2008;Stanbery et al, 2010) Deletion Ovary, breast Russell et al, 2000) Hodgkin lymphoma (Giefing et al, 2008) SEPT10 None None SEPT11 Gene fusion Deletion AML (Santos et al, 2010b;Stevens et al, 2010) Deletion Liver SEPT12 None None SEPT13 None None SEPT14 None None (Montagna et al, 2003) and the Russell group established that SEPT9 overexpression occurs in various human tumors (Scott et al, 2005). The discovery of DNA hypermethylation at the promoter region of SEPT9 in colorectal (deVos et al, 2009) and head and neck cancer patients (Bennett et al, 2008) complicated the conflicti...…”

Section: Sept6mentioning

confidence: 99%

Septin roles in tumorigenesis

Connolly

Abdesselam

Verdier-Pinard

et al. 2011

BCHM

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Septins are a family of cytoskeleton related proteins consisting of 14 members that associate and interact with actin and tubulin. From yeast to humans, septins maintain a conserved role in cytokinesis and they are also involved in a variety of other cellular functions including chromosome segregation, DNA repair, migration and apoptosis. Tumorigenesis entails major alterations in these processes. A substantial body of literature reveals that septins are overexpressed, downregulated or generate chimeric proteins with MLL in a plethora of solid tumors and in hematological malignancies. Thus, members of this gene family are emerging as key players in tumorigenesis. The analysis of septins during cancer initiation and progression is challenged by the presence of many family members and by their potential to produce numerous isoforms. However, the development and application of advanced technologies is allowing for a more detailed analysis of septins during tumorigenesis. Specifically, such applications have led to the establishment and validation of SEPT9 as a biomarker for the early detection of colorectal cancer. This review summarizes the current knowledge on the role of septins in tumorigenesis, emphasizing their significance and supporting their use as potential biomarkers in various cancer types.

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Emergence of two unrelated clones in acute myeloid leukemia with MLL-SEPT9 fusion transcript

Cited by 10 publications

References 21 publications

De novo Acute Myeloid Leukemia Associated with t(11;17)(q23;q25) and <i>MLL</i>-<i>SEPT9 </i>Rearrangement in an Elderly Patient: A Case Study and Review of the Literature

De novo Acute Myeloid Leukemia Associated with t(11;17)(q23;q25) and <i>MLL</i>-<i>SEPT9 </i>Rearrangement in an Elderly Patient: A Case Study and Review of the Literature

MLL-SEPTIN gene fusions in hematological malignancies

Septin roles in tumorigenesis

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