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MLL-SEPT5 Fusion Transcript in Two de novo Acute Myeloid Leukemia Patients With t(11;22)(q23;q11)

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Dear Editor, Rearrangements involving mixed lineage leukemia (MLL) are common chromosome aberrations in infant, pediatric and adult acute leukemia, which are generally associated with poor prognosis... Total RNA was extracted from the bone marrow cells using TRIzol reagent (Invitrogen, Paisley, UK) and chloroform. cDNA was obtained by RT-PCR using the M-MLV reverse transcriptase (Promega, Madison, WI, USA)... The resulting cDNA was amplified by PCR using 2×Hieff PCR Master Mix (Yaeson, Shanghai, China) and the following primers: 5'-GCTCCACCCATCAAACCAAT-3' from exon 5 of MLL and 5'-TTCTTCTCAATGTCCACCGT-3' from exon 4 of SEPT5 (Fig. 2)... Karyotype was 46, XX, t(11;22)(q23;q11.2) in all 10 cells examined... She did not receive chemotherapy in our hospital... MLL-SEPT5 fusion was verified by the previously used method and the following PCR primers: 5'-CCGGTCAATAAGCAGGAGAA-3' from exon 10 of MLL and 5'-CAGCCATGAGTGTGAAG-3' from exon 3 of SEPT5... Long distance inverse-PCR is very useful for recognizing unusual cryptic cytogenetic findings, such as a rare MLL partner gene, or discrepancies in molecular results that are hard to identify through common molecular diagnostic methods... Since we have identified the partner gene from previous studies, we utilized RT-PCR and Sanger DNA sequencing to confirm the fusion gene... The results indicate the rearrangement between MLL exon 10 and SEPT5 exon 3 (Fig. 3B)... We described two new cases of de novo AML with t(11;22)(q23;q11.2), resulting in a MLL-SEPT5 fusion... All patients with the MLL-SEPT5 fusion gene were diagnosed with AML... Tatsumi et al. examined SEPT5 expression in 27 leukemia cell lines, including 13 AML and 14 ALL cell lines, which indicated that SEPT5 expression in AML cell lines was significantly higher than that in ALL... MLL-SEPT5 fusion gene was important in the leukemogenesis of AML with t(11;22)(q23;q11.2).

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FISH analysis using 11q23 break-apart probe revealed MLL rearrangement. Separation of a green and a red signal was observed.Abbreviation: MLL, mixed lineage leukemia.
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Figure 1: FISH analysis using 11q23 break-apart probe revealed MLL rearrangement. Separation of a green and a red signal was observed.Abbreviation: MLL, mixed lineage leukemia.

Mentions: Patient 1 was a 21-yr-old man who presented with fever, oral ulcer, and tonsillitis. His hemoglobin level was 8.5 g/dL, white blood cell count was 35.45×109/L, and platelet count was 29×109/L. Bone marrow aspiration was hypercellular, containing 81% blasts. Immunophenotypic analysis showed that the blasts were positive for CD45, CD33, CD117, CD15, and HLA-DR, but negative for other markers. Cytogenetic studies revealed the karyotype of 46, XY, t(11;22)(q23;q11.2) [8]/46,XY [2]. Fluorescence in situ hybridization analysis using a MLL-specific probe showed a split in the MLL gene (Fig. 1). He received three courses of induction chemotherapy in our hospital followed by a mother-to-son haploidentical bone marrow transplantation. To date, he is in complete remission.


MLL-SEPT5 Fusion Transcript in Two de novo Acute Myeloid Leukemia Patients With t(11;22)(q23;q11)
FISH analysis using 11q23 break-apart probe revealed MLL rearrangement. Separation of a green and a red signal was observed.Abbreviation: MLL, mixed lineage leukemia.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4940498&req=5

Figure 1: FISH analysis using 11q23 break-apart probe revealed MLL rearrangement. Separation of a green and a red signal was observed.Abbreviation: MLL, mixed lineage leukemia.
Mentions: Patient 1 was a 21-yr-old man who presented with fever, oral ulcer, and tonsillitis. His hemoglobin level was 8.5 g/dL, white blood cell count was 35.45×109/L, and platelet count was 29×109/L. Bone marrow aspiration was hypercellular, containing 81% blasts. Immunophenotypic analysis showed that the blasts were positive for CD45, CD33, CD117, CD15, and HLA-DR, but negative for other markers. Cytogenetic studies revealed the karyotype of 46, XY, t(11;22)(q23;q11.2) [8]/46,XY [2]. Fluorescence in situ hybridization analysis using a MLL-specific probe showed a split in the MLL gene (Fig. 1). He received three courses of induction chemotherapy in our hospital followed by a mother-to-son haploidentical bone marrow transplantation. To date, he is in complete remission.

View Article: PubMed Central - PubMed

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Dear Editor, Rearrangements involving mixed lineage leukemia (MLL) are common chromosome aberrations in infant, pediatric and adult acute leukemia, which are generally associated with poor prognosis... Total RNA was extracted from the bone marrow cells using TRIzol reagent (Invitrogen, Paisley, UK) and chloroform. cDNA was obtained by RT-PCR using the M-MLV reverse transcriptase (Promega, Madison, WI, USA)... The resulting cDNA was amplified by PCR using 2×Hieff PCR Master Mix (Yaeson, Shanghai, China) and the following primers: 5'-GCTCCACCCATCAAACCAAT-3' from exon 5 of MLL and 5'-TTCTTCTCAATGTCCACCGT-3' from exon 4 of SEPT5 (Fig. 2)... Karyotype was 46, XX, t(11;22)(q23;q11.2) in all 10 cells examined... She did not receive chemotherapy in our hospital... MLL-SEPT5 fusion was verified by the previously used method and the following PCR primers: 5'-CCGGTCAATAAGCAGGAGAA-3' from exon 10 of MLL and 5'-CAGCCATGAGTGTGAAG-3' from exon 3 of SEPT5... Long distance inverse-PCR is very useful for recognizing unusual cryptic cytogenetic findings, such as a rare MLL partner gene, or discrepancies in molecular results that are hard to identify through common molecular diagnostic methods... Since we have identified the partner gene from previous studies, we utilized RT-PCR and Sanger DNA sequencing to confirm the fusion gene... The results indicate the rearrangement between MLL exon 10 and SEPT5 exon 3 (Fig. 3B)... We described two new cases of de novo AML with t(11;22)(q23;q11.2), resulting in a MLL-SEPT5 fusion... All patients with the MLL-SEPT5 fusion gene were diagnosed with AML... Tatsumi et al. examined SEPT5 expression in 27 leukemia cell lines, including 13 AML and 14 ALL cell lines, which indicated that SEPT5 expression in AML cell lines was significantly higher than that in ALL... MLL-SEPT5 fusion gene was important in the leukemogenesis of AML with t(11;22)(q23;q11.2).

No MeSH data available.


Related in: MedlinePlus