Acute leukaemia and myelodysplastic syndromes with chromosomal rearrangement involving 11q23 locus, but not<i>MLL</i>gene

Zuo, Wenli; Wang, Sa A.; DiNardo, Courtney D.; Yabe, Mariko; Li, Shaoying; Medeiros, L. Jeffrey; Tang, Guilin

doi:10.1136/jclinpath-2016-203831

Cited by 6 publications

(4 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This patient should not have been counted as an MLL ‐r case in a strict sense because the MLL dual‐color break‐apart FISH probe cannot accurately distinguish whether the breakpoints fall inside or outside of the MLL gene. In other words, expanding the NGS capture panel to complete 11q23 should be sufficient to clarify the clinical significance between the 11q23 region translocation without MLL rearrangements and MLL ‐associated fusions in AL . To reduce false‐negative reports, the uncovered regions on MLL can be conveniently replenished and improved.…”

Section: Discussionmentioning

confidence: 99%

“…The targeted NGS approach has numerous advantages over tradi- and MLL-associated fusions in AL. 28 To reduce false-negative reports, the uncovered regions on MLL can be conveniently replenished and improved. Briefly, paired-end targeted NGS can be used to acquire more comprehensive information of the MLL recombinome than that received through the standard translocation detection methods mentioned above.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Relatively favorable prognosis for MLL‐rearranged childhood acute leukemia with reciprocal translocations

Liu

Ding

Liang

et al. 2018

Pediatric Blood & Cancer

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Relatively favorable prognosis for MLL‐rearranged childhood acute leukemia with reciprocal translocations

Liu

Ding

Liang

et al. 2018

Pediatric Blood & Cancer

View full text Add to dashboard Cite

show abstract

“…FISH studies for KMT2A (dual‐color break‐apart probe, Abbott Molecular/Vysis, Des Plaines, Illinois, USA) rearrangement were performed on freshly harvested BM cells (metaphase or interphase). The positive cut‐off for KMT2A rearrangement in our laboratory is 3.6% (Zuo et al, 2017).…”

Section: Methodsmentioning

confidence: 89%

Comprehensive immunophenotypic study of acute myeloid leukemia with KMT2A (MLL) rearrangement in adults: A single‐institution experience

Konoplev

Wang

Tang

et al. 2021

Cytometry Part B Clinical

Self Cite

View full text Add to dashboard Cite

Background Acute myeloid leukemia (AML) with KMT2A (MLL) rearrangement is known for monocytic or myelomonocytic differentiation, but the full immunophenotypic spectrum and dynamic changes of the immunophenotype in this genetically defined disease have not been systematically studied. Methods We reviewed the immunophenotype, karyotype, and mutations at the time of initial diagnosis and relapse of adults with AML with KMT2A rearrangement in our institution between 2007 and 2020. Results We identified 102 patients: 44 men and 58 women with a median age of 52 years (range, 18–87). Forty‐three patients were considered to be therapy‐related. Twenty‐four out of 64 patients relapsed from complete remission after induction therapy, 34 had persistent/progressive disease, and 58 patients died with a median overall survival of 17 months. We detected five immunophenotypes: immature monocytic (38%); myelomonocytic (22%); myeloblastic (22%); mature monocytic (10%); and acute promyelocytic (APL)‐like (8%). By chromosomal breakpoints, we presumed 11 different partners; t(9;11) (p22;q23)/MLLT3‐KMT2A was the most common rearrangement (n = 56, 55%), followed by t(6;11) (q27;q23)/AFDN‐KMT2A (n = 13,13%). Patients with t(6;11) (q27;q23)/AFDN‐KMT2A preferentially showed a myeloblastic phenotype (p = 0.026). Mutations were detected in 39/64 (61%) cases, and RAS pathway (NRAS/KRAS/PTPN11) was involved in 26/64 (41%) cases. None of the APL‐like cases had mutations detected. At the time of disease relapse, 10/24 (42%) showed major immunophenotypic change, and 7/10 cases gained additional cytogenetic and/or molecular alterations. Conclusion The immunophenotype of AML with KMT2A rearrangement is more diverse than previously recognized, with a substantial subset showing no evidence of monocytic differentiation. Major immunophenotype change is common at the time of relapse.

show abstract

“…[ 1 ] In contrast, disorders that develop secondary to topoisomerase II inhibitors present as acute myeloid leukemia are related to balanced translocations involving chromosome bands 11q23 or 21q22. [ 2 – 4 ] Herein, we present a case of infant acute lymphoblastic leukemia (ALL) that further evolved to t-MDS and was treated with an upfront transplant.…”

Section: Introductionmentioning

confidence: 99%

Allogeneic stem cell transplantation without preconditioning in a child with therapy-related myelodysplastic syndrome: A case report

et al. 2023

View full text Add to dashboard Cite

Rationale: Infants with mixed-lineage leukemia (MLL)-rearranged leukemia are usually refractory to standard induction therapy and are not immediate candidates for allogeneic hematopoietic stem cell transplantation (allo-HSCT). Chromosome 11q23 translocations, resulting in MLL rearrangement, have been well characterized in infant acute lymphoblastic leukemia (ALL). While t(4;11) ALL continues to have carry a bleak prognosis, patients with therapy-related myelodysplastic syndrome (t-MDS) have a shorter median overall survival than those compared with de novo MDS. Patient concerns: We describe a child with t-MDS who evolved from MLL-rearranged ALL and was successfully treated with HSCT without toxic preconditioning. Diagnoses: MDS diagnosis was based on morphological characteristics of bone marrow dysplasia in patients with clinical manifestations evidence of hematopoiesis impairments by different combinations of anemia, leukopenia, neutropenia, and thrombocytopenia. Interventions: Although the best donor for allo-HSCT is generally considered an human leukocyte antigen-matched sibling, only ~ 30% of patients have a suitable sibling. HSCT from an unrelated donor is a suitable option for patients with t-MDS who do not have matched sibling donors. Outcomes: Allo-HSCT without recipient preconditioning could be a promising treatment option for t-MDS, especially for patients with recurrent or persistent infections. Lessons: Cytogenetics, prognosis, and treatment of t-MDS are briefly discussed. Preconditioning before allo-HSCT seriously damages immune function. This work reviews our experience with a patient with t-MDS following ALL complicated by recurrent infections, and highlights our choice to omit preconditioning from allo-HSCT.

show abstract

Acute leukaemia and myelodysplastic syndromes with chromosomal rearrangement involving 11q23 locus, but notMLLgene

Cited by 6 publications

References 33 publications

Relatively favorable prognosis for MLL‐rearranged childhood acute leukemia with reciprocal translocations

Relatively favorable prognosis for MLL‐rearranged childhood acute leukemia with reciprocal translocations

Comprehensive immunophenotypic study of acute myeloid leukemia with KMT2A (MLL) rearrangement in adults: A single‐institution experience

Allogeneic stem cell transplantation without preconditioning in a child with therapy-related myelodysplastic syndrome: A case report

Contact Info

Product

Resources

About