scholarly journals MLL-SEPT5 Fusion Transcript in Myelodysplastic Syndrome Patient With t(11;22)(q23;q11)

2021 ◽  
Vol 8 ◽  
Author(s):  
Duobing Zou ◽  
Ying Chen ◽  
Ningning Wu ◽  
Yi Zhang ◽  
Guifang Ouyang ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Gene Rearrangement ◽  
Karyotype Analysis ◽  
Fusion Transcript ◽  
Sequencing Analysis ◽  
Rt Pcr ◽  
Hematopoietic Stem ◽  
Mll Gene ◽  
Pcr Products ◽  
Mll Gene Rearrangement

Objectives: This study aimed to identify unknown mixed lineage leukemia (MLL) translocation partner genes in a de novo patient with myelodysplastic syndrome (MDS) with t(11;22)(q23;q11) and investigate the clinical and molecular features of this patient.Methods: Bone marrow cells were assessed by karyotype analysis to reveal chromosomal abnormalities. Fluorescence in situ hybridization (FISH) was performed to detect MLL gene rearrangement using an MLL-specific break-apart probe. LDI-PCR and RT-PCR were performed, and the PCR products were sequenced using an Illumina MiSeq sequencer (Illumina, San Diego, CA, USA). The sequence data of the PCR products were analyzed using bioinformatics tools. Meanwhile, clinical data were collected to evaluate the prognosis of the patient.Results: Chromosomal karyotype analysis showed that the karyotype of the patient was 46, XX, t(11;22)(q23;q11)[10]/46, XX[1]. Subsequently, FISH data confirmed MLL gene rearrangement in the patient. LDI-PCR precisely showed that SEPT5 was the MLL translocation partner gene. RT-PCR and sequencing analysis disclosed the presence of MLL-SEPT5 fusion transcript and confirmed the fusion between MLL exon 8 and SEPT5 exon 3. Moreover, the patient had a recurrence shortly after allogeneic hematopoietic stem cell transplantation.Conclusion: Although the MLL-SEPT5 fusion transcript was occasionally described in acute myeloid leukemia, it was first identified in MDS. Patients with MLL-SEPT5 fusion gene exhibited a poor prognosis even with an aggressive treatment.

scholarly journals Molecular analysis of infant acute lymphoblastic leukemia: MLL gene rearrangement and reverse transcriptase-polymerase chain reaction for t(4; 11)(q21; q23)

Blood ◽  
1995 ◽  
Vol 86 (10) ◽  
pp. 3876-3882 ◽  
Author(s):  
JM Hilden ◽  
JL Frestedt ◽  
RO Moore ◽  
NA Heerema ◽  
DC Arthur ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Acute Lymphoblastic Leukemia ◽  
Gene Rearrangement ◽  
Lymphoblastic Leukemia ◽  
Rt Pcr ◽  
Chain Reaction ◽  
Mll Gene ◽  
Polymerase Chain ◽  
Mll Gene Rearrangement ◽  
Infant Acute Lymphoblastic Leukemia

Molecular techniques to detect MLL (11q23) and AF-4 (4q21) gene rearrangements are being evaluated for use in stratification of patients into prognostic groups. We studied 15 cases of infant acute lymphoblastic leukemia (ALL) with Southern blotting for MLL gene rearrangement and reverse transcriptase-polymerase chain reaction (RT- PCR) for t(4;11) fusion transcripts and compared the results to cytogenetic and clinical data. Our results indicate that classic t(4;11)(q21;q23) translocations are detected by RT-PCR; however, unusual 4;11 translocations still require additional investigation. We also extended and updated our original study of MLL gene rearrangement in infant ALL to 40 patients with longer follow-up and show that the group with germline configuration of the MLL gene continues to have an excellent outcome. The results of salvage therapy (bone marrow transplantation or chemotherapy) suggest that transplant may show advantage. Preliminary results of the use of RT-PCR to assess minimal disease are also reported.

The translocation t(2;11)(p21;q23) without MLL gene rearrangement-a possible marker of good prognosis in myelodysplastic syndrome patients

2013 ◽  
Vol 32 (2) ◽  
pp. 82-86 ◽  
Author(s):  
Pavel Dvorak ◽  
Daniel Lysak ◽  
Samuel Vokurka ◽  
Kyra Michalova ◽  
Iveta Sarova ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Gene Rearrangement ◽  
Good Prognosis ◽  
Mll Gene ◽  
Mll Gene Rearrangement

Childhood Acute Lymphoblastic Leukemia With the MLL-ENL Fusion and t(11;19)(q23;p13.3) Translocation

1999 ◽  
Vol 17 (1) ◽  
pp. 191-191 ◽  
Author(s):  
Jeffrey E. Rubnitz ◽  
Bruce M. Camitta ◽  
Hazem Mahmoud ◽  
Susana C. Raimondi ◽  
Andrew J. Carroll ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
T Cell ◽  
Lymphoblastic Leukemia ◽  
Leukemic Cell ◽  
Fusion Transcript ◽  
Cell Phenotype ◽  
Molecular Characteristics ◽  
Older Children ◽  
Hematopoietic Stem ◽  
Mll Gene

PURPOSE: To determine the molecular characteristics, clinical features, and treatment outcomes of children with acute lymphoblastic leukemia (ALL) and the t(11;19)(q23;p13.3) translocation. PATIENTS AND METHODS: A retrospective analysis of leukemic cell karyotypes obtained from patients with new diagnoses of ALL who were treated at St. Jude Children's Research Hospital or by the Pediatric Oncology Group was performed to identify cases with the t(11;19)(q23;p13.3) translocation. Molecular analyses were performed on these cases to determine the status of the MLL gene and the presence of the MLL-ENL fusion transcript. RESULTS: Among 3,578 patients with ALL and successful cytogenetic analysis, we identified 35 patients with the t(11;19)(q23;p13.3) translocation: 13 infants and 11 older children had B-precursor leukemia, whereas 11 patients had a T-cell phenotype. Although all of the cases examined had MLL rearrangements and MLL-ENL fusion transcripts, outcome varied according to age and immunophenotype. Among B-precursor cases, only two of the 13 infants remain in complete remission, compared with six of the 11 older children. Most strikingly, no relapses have occurred among B-precursor patients 1 to 9 years of age or among T-cell patients. CONCLUSION: Although MLL gene rearrangements are generally associated with a dismal outcome in ALL, two distinct subsets with MLL-ENL fusions have an excellent prognosis. Our results suggest that patients with this genetic abnormality who have T-cell ALL or are 1 to 9 years of age should not be considered candidates for hematopoietic stem-cell transplantation during their first remission.

A Case of Therapy-related ALL with MLL Gene Rearrangement Following Treatment of Breast Cancer

2010 ◽  
Vol 30 (3) ◽  
pp. 255-259 ◽  
Author(s):  
Jinhee Cho ◽  
Mina Hur ◽  
Hee Won Moon ◽  
Yeo-Min Yun ◽  
Chang Hoon Lee ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Rearrangement ◽  
Mll Gene ◽  
Mll Gene Rearrangement

The Biological Characteristics of Osteoblasts Derived from Myelodysplastic Syndrome Patients.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 4101-4101
Author(s):  
Wen-ming Chen ◽  
Zi-xing Chen ◽  
Jian-nong Cen ◽  
Jun He ◽  
Xiao-li Jiao ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Myelodysplastic Syndrome ◽  
Biological Characteristics ◽  
Bone Marrow Mononuclear Cell ◽  
Feeder Layer ◽  
Rt Pcr ◽  
Osteoblastic Cell Line ◽  
Hematopoietic Stem ◽  
Gm Csf

Abstract It was hypothesized that osteoblasts play a central role in hematopoiesis, and it has been shown that osteoblasts produce many factors essential for the survival, renewal, and maturation of hematopoietic stem cells (HSCs). By using human fetal osteoblastic cell line hFOB1.19 as a model of control, we investigated the biological characteristics of osteoblasts derived from patients with myelodysplastic syndrome (MDS) and their hematopoietic supportive function in vitro. MSCs isolated from bone marrow of MDS patients and normal donors were cultured and checked for their morphology, immunophenotype, CFU-F forming capacity and the expression of hematopoietic cytokines. A feeder layer was prepared by osteoblasts induced from 3rd generation of cultured MSCs and treated with mitomycin C. Ficoll-isolated bone marrow mononuclear cell from normal donors were then seeded on the feeder layer to co-culture in vitro without exogenous cytokines. FCM revealed that both MSCs and hFOB cells were positive for CD44, CD73(SH3), CD105(SH2) and CD90 (Thy1), but negative for CD34, CD45, HLA-DR. RT-PCR found that hFOB cells expressed mRNA of SCF, IL-6, IL-11, SDF-1, GM-CSF and G-CSF. MSCs obtained from MDS patients and normal donors were displaying fibroblastoid morphology. Their growth pattern, immunophenotype and CFU-F forming capacity were similar (P >0.05). Without exogenous cytokines, the osteoblasts derived from MDS could sustain GM-CFC survival for at least 3 weeks. The CFU-GM yield from cells in upper layer of co-culture was not different from those of control in hematopoiesis supportive experiments in vitro (P>0.05). RT-PCR clearly demonstrated that the cultured BM-MSCs from normal donor expressed mRNA of SCF, SDF-1, IL-6, and IL-11. As the MSCs differentiated toward osteoblasts, the expression of G-CSF could be detected, whereas GM-CSF remained undetectable. The same expression profile of above cytokines were also seen in osteoblasts induced from BM-MSCs of MDS patients. In conclusion, osteoblasts may play a pivotal role in hematopoiesis. The biological characteristics of osteoblasts from bone marrow of MDS patients were generally not different from those of osteoblasts in bone marrow of normal controls. Both of them could support survival of GM-CFC hematopoietic progenitor cells in vitro, according to their expression of multiple cytokines. These findings suggested that the osteoblasts derived from MDS patients may not be involved in the malignant process.

Unusual case of therapy related B-ALL with MLL gene rearrangement

Pathology ◽  
2015 ◽  
Vol 47 ◽  
pp. S87-S88
Author(s):  
Alejandro Arbelaez ◽  
Greg Orchard ◽  
Cyriac Abraham ◽  
Laurence Catley ◽  
Johan Niemann
Keyword(s):  
Gene Rearrangement ◽  
Unusual Case ◽  
Mll Gene ◽  
Mll Gene Rearrangement

scholarly journals The der(11)-encoded MLL/AF-4 fusion transcript is consistently detected in t(4;11)(q21;q23)-containing acute lymphoblastic leukemia

Blood ◽  
1994 ◽  
Vol 83 (2) ◽  
pp. 330-335 ◽  
Author(s):  
JR Downing ◽  
DR Head ◽  
SC Raimondi ◽  
AJ Carroll ◽  
AM Curcio-Brint ◽  
...  
Keyword(s):  
Residual Disease ◽  
Lymphoblastic Leukemia ◽  
Leukemic Cell ◽  
Fusion Transcript ◽  
Pcr Analysis ◽  
Chromosome 11 ◽  
Rt Pcr ◽  
Pcr Products ◽  
Contrast Analysis ◽  
Leukemic Clone

The t(4;11)(q21;q23) is the most common translocation involving band 11q23 and is found predominantly in acute lymphoblastic leukemias (ALLs) of infants. Recent studies have shown that this translocation involves the MLL gene on chromosome 11 and the AF-4 gene on chromosome 4. Using oligonucleotide primers derived from these genes, we established reverse transcription-polymerase chain reaction (RT-PCR) assays for the detection of the fusion transcripts from both the der(11) and der(4) chromosomes. Using these assays we analyzed 23 pediatric cases of t(4;11) containing ALL. RT-PCR analysis for the der(11)-derived MLL/AF-4 fusion transcript resulted in its detection in every case at a sensitivity of greater than 1 leukemic cell in 10(5) cells. Sequence analysis of MLL/AF-4 PCR products demonstrated fusion mRNAs resulting from breaks in MLL introns 6, 7, or 8, with alternative splicing to one of three exons in the AF-4 gene. In contrast, analysis for the der(4)-derived transcript resulted in the detection of this chimeric mRNA in only 84% of the cases analyzed. These data suggest that the critical chimeric gene product involved in the establishment of the leukemic clone is derived from the der(11) chromosome. Moreover, these data demonstrate the utility of the RT-PCR assay for the der(11)- encoded message both for diagnosing t(4;11)-containing leukemia and for monitoring patients for minimal residual disease.

scholarly journals The der(11)-encoded MLL/AF-4 fusion transcript is consistently detected in t(4;11)(q21;q23)-containing acute lymphoblastic leukemia

Blood ◽  
1994 ◽  
Vol 83 (2) ◽  
pp. 330-335 ◽  
Author(s):  
JR Downing ◽  
DR Head ◽  
SC Raimondi ◽  
AJ Carroll ◽  
AM Curcio-Brint ◽  
...  
Keyword(s):  
Residual Disease ◽  
Lymphoblastic Leukemia ◽  
Leukemic Cell ◽  
Fusion Transcript ◽  
Pcr Analysis ◽  
Chromosome 11 ◽  
Rt Pcr ◽  
Pcr Products ◽  
Contrast Analysis ◽  
Leukemic Clone

Abstract The t(4;11)(q21;q23) is the most common translocation involving band 11q23 and is found predominantly in acute lymphoblastic leukemias (ALLs) of infants. Recent studies have shown that this translocation involves the MLL gene on chromosome 11 and the AF-4 gene on chromosome 4. Using oligonucleotide primers derived from these genes, we established reverse transcription-polymerase chain reaction (RT-PCR) assays for the detection of the fusion transcripts from both the der(11) and der(4) chromosomes. Using these assays we analyzed 23 pediatric cases of t(4;11) containing ALL. RT-PCR analysis for the der(11)-derived MLL/AF-4 fusion transcript resulted in its detection in every case at a sensitivity of greater than 1 leukemic cell in 10(5) cells. Sequence analysis of MLL/AF-4 PCR products demonstrated fusion mRNAs resulting from breaks in MLL introns 6, 7, or 8, with alternative splicing to one of three exons in the AF-4 gene. In contrast, analysis for the der(4)-derived transcript resulted in the detection of this chimeric mRNA in only 84% of the cases analyzed. These data suggest that the critical chimeric gene product involved in the establishment of the leukemic clone is derived from the der(11) chromosome. Moreover, these data demonstrate the utility of the RT-PCR assay for the der(11)- encoded message both for diagnosing t(4;11)-containing leukemia and for monitoring patients for minimal residual disease.

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