MLLT10 in benign and malignant hematopoiesis

Deutsch, Jamie; Heath, Jessica L.

doi:10.1016/j.exphem.2020.06.002

Cited by 6 publications

(10 citation statements)

References 121 publications

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“…We have to admit that the basic immunophenotypic definition of ETP-ALL is not extremely precise and includes patients with more or less typical non-ETP T-ALL in this group [ 22 ]. Hence, additional attempts to modify this immunophenotypic definition [ 23 , 24 , 25 ] or improve it with additional genetic studies have been published [ 3 ]. Nevertheless, nearly all recurrences occur in “true” early leukemia cases sharing T-lineage and myeloid features and result in final changes in diagnosis at relapse/progression.…”

Section: Discussionmentioning

confidence: 99%

Immunophenotypic but Not Genetic Changes Reclassify the Majority of Relapsed/Refractory Pediatric Cases of Early T-Cell Precursor Acute Lymphoblastic Leukemia

Demina,

Dagestani,

Borkovskaia

et al. 2024

IJMS

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Early T-cell precursor acute lymphoblastic leukemia (ETP-ALL) develops from very early cells with the potential for both T-cell and myeloid differentiation. The ambiguous nature of leukemic blasts in ETP-ALL may lead to immunophenotypic alterations at relapse. Here, we address immunophenotypic alterations and related classification issues, as well as genetic features of relapsed pediatric ETP-ALL. Between 2017 and 2022, 7518 patients were diagnosed with acute leukemia (AL). In addition to conventional immunophenotyping, karyotyping, and FISH studies, we performed next-generation sequencing of the T-cell receptor clonal repertoire and reverse transcription PCR and RNA sequencing for patients with ETP-ALL at both initial diagnosis and relapse. Among a total of 534 patients diagnosed with T-cell ALL (7.1%), 60 had ETP-ALL (11.2%). Ten patients with ETP-ALL experienced relapse or progression on therapy (16.7%), with a median time to event of 5 months (ranging from two weeks to 5 years). Most relapses were classified as AL of ambiguous lineage (n = 5) and acute myeloid leukemia (AML) (n = 4). Major genetic markers of leukemic cells remained unchanged at relapse. Of the patients with relapse, four had polyclonal leukemic populations and a relapse with AML or bilineal mixed-phenotype AL (MPAL). Three patients had clonal TRD rearrangements and relapse with AML, undifferentiated AL, or retention of the ETP-ALL phenotype. ETP-ALL relapse requires careful clinical and laboratory diagnosis. Treatment decisions should rely mainly on initial examination data, taking into account both immunophenotypic and molecular/genetic characteristics.

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Section: Discussionmentioning

confidence: 99%

Immunophenotypic but Not Genetic Changes Reclassify the Majority of Relapsed/Refractory Pediatric Cases of Early T-Cell Precursor Acute Lymphoblastic Leukemia

Demina,

Dagestani,

Borkovskaia

et al. 2024

IJMS

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“…The functions of other genes have been reported mostly in cancer, but rarely in brain disorders. M LLT10 (also known as AF10 ) [ 65 ] and SKIDA1 [ 66 ] are commonly observed in acute leukemias and are indicative of a poor prognosis. Upregulation of the long noncoding RNA CASC10 could promote cisplatin resistance in high-grade serous ovarian cancer [ 67 ].…”

Section: Discussionmentioning

confidence: 99%

The genetic architecture of fornix white matter microstructure and their involvement in neuropsychiatric disorders

et al. 2023

Transl Psychiatry

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The fornix is a white matter bundle located in the center of the hippocampaldiencephalic limbic circuit that controls memory and executive functions, yet its genetic architectures and involvement in brain disorders remain largely unknown. We carried out a genome-wide association analysis of 30,832 UK Biobank individuals of the six fornix diffusion magnetic resonance imaging (dMRI) traits. The post-GWAS analysis allowed us to identify causal genetic variants in phenotypes at the single nucleotide polymorphisms (SNP), locus, and gene levels, as well as genetic overlap with brain health-related traits. We further generalized our GWAS in adolescent brain cognitive development (ABCD) cohort. The GWAS identified 63 independent significant variants within 20 genomic loci associated (P < 8.33 × 10−9) with the six fornix dMRI traits. Geminin coiled-coil domain containing (GMNC) and NUAK family SNF1-like kinase 1 (NUAK1) gene were highlighted, which were found in UKB and replicated in ABCD. The heritability of the six traits ranged from 10% to 27%. Gene mapping strategies identified 213 genes, where 11 were supported by all of four methods. Gene-based analyses revealed pathways relating to cell development and differentiation, with astrocytes found to be significantly enriched. Pleiotropy analyses with eight neurological and psychiatric disorders revealed shared variants, especially with schizophrenia under the conjFDR threshold of 0.05. These findings advance our understanding of the complex genetic architectures of fornix and their relevance in neurological and psychiatric disorders.

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“…MLLT10 is a promiscuous fusion partner in leukemia (4,40). In the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer, 26 MLLT10 chimeric genes are registered in various types of leukemia (4).…”

Section: Discussionmentioning

confidence: 99%

Acute Undifferentiated Leukemia With a Balanced t(5;10)(q35;p12) Resulting in Fusion ofHNRNPH1WithMLLT10

PANAGOPOULOS,

ANDERSEN,

WIK

et al. 2023

Cancer Genomics Proteomics

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Background/Aim: Acute undifferentiated leukemia (AUL) is leukemia which does not express lineagespecific antigens. Such cases are rare, accounting for 2.7% of all acute leukemia. The reported genetic information of AULs is limited to less than 100 cases with abnormal karyotypes and a few cases carrying chimeric genes or point mutation of a gene. We herein present the genetic findings and clinical features of a case of AUL. Case Report: Bone marrow cells obtained at diagnosis from a 31-year-old patient with AUL were genetically investigated. G-Banding karyotyping revealed an abnormal karyotype: 45,X,-Y,t(5;10)(q35;p12),del(12)(p13) [12]/46,XY [5]. Array comparative genomic hybridization examination confirmed the del(12)(p13) seen by G-banding but also detected additional losses from 1q, 17q, Xp, and Xq corresponding to the deletion of approximately 150 genes from these five chromosome arms. RNA sequencing detected six HNRNPH1::MLLT10 and four MLLT10::HNRNPH1 chimeric transcripts, later confirmed by reverse-transcription polymerase chain reaction together with Sanger sequencing.

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MLLT10 in benign and malignant hematopoiesis

Cited by 6 publications

References 121 publications

Immunophenotypic but Not Genetic Changes Reclassify the Majority of Relapsed/Refractory Pediatric Cases of Early T-Cell Precursor Acute Lymphoblastic Leukemia

Immunophenotypic but Not Genetic Changes Reclassify the Majority of Relapsed/Refractory Pediatric Cases of Early T-Cell Precursor Acute Lymphoblastic Leukemia

The genetic architecture of fornix white matter microstructure and their involvement in neuropsychiatric disorders

Acute Undifferentiated Leukemia With a Balanced t(5;10)(q35;p12) Resulting in Fusion ofHNRNPH1WithMLLT10

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