Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia

Li, Feng; Liu, Ying; Jiang, Yujie; Wang, Na; Yuan, Di; Fan, Jia

doi:10.1097/md.0000000000012214

Cited by 7 publications

(4 citation statements)

References 6 publications

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“…For example, the World Health Organization (WHO) classification ( 2 , 39 ), recognized as a standard for disease diagnosis and public health monitoring worldwide, has been revised from the primary to the 5 th edition during the past 60 years ( 2 ). French-American-British (FAB) classification ( 40 ) and MICM classification (Morphology, Immunology, Cytogenetics, and Molecular) classification ( 41 ). Meanwhile, the diagnostic criteria for leukemia have also changed ( 42 , 43 ).…”

Section: Discussionmentioning

confidence: 99%

Global disease burden and trends of leukemia attributable to occupational risk from 1990 to 2019: An observational trend study

Shi

Chen

et al. 2022

Front. Public Health

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BackgroundLeukemia caused by occupational risk is a problem that needs more attention and remains to be solved urgently, especially for acute lymphoid leukemia (ALL), acute myeloid leukemia (AML), and chronic lymphoid leukemia (CLL). However, there is a paucity of literature on this issue. We aimed to assess the global burden and trends of leukemia attributable to occupational risk from 1990 to 2019.MethodsThis observational trend study was based on the Global Burden of Disease (GBD) 2019 database, the global deaths, and disability-adjusted life years (DALYs), which were calculated to quantify the changing trend of leukemia attributable to occupational risk, were analyzed by age, year, geographical location, and socio-demographic index (SDI), and the corresponding estimated annual percentage change (EAPC) values were calculated.ResultsGlobal age-standardized DALYs and death rates of leukemia attributable to occupational risk presented significantly decline trends with EAPC [−0.38% (95% CI: −0.58 to −0.18%) for DALYs and −0.30% (95% CI: −0.45 to −0.146%) for death]. However, it was significantly increased in people aged 65–69 years [0.42% (95% CI: 0.30–0.55%) for DALYs and 0.38% (95% CI: 0.26–0.51%) for death]. At the same time, the age-standardized DALYs and death rates of ALL, AML, and CLL were presented a significantly increased trend with EAPCs [0.78% (95% CI: 0.65–0.91%), 0.87% (95% CI: 0.81–0.93%), and 0.66% (95% CI: 0.51–0.81%) for DALYs, respectively, and 0.75% (95% CI: 0.68–0.82%), 0.96% (95% CI: 0.91–1.01%), and 0.55% (95% CI: 0.43–0.68%) for death], respectively. The ALL, AML, and CLL were shown an upward trend in almost all age groups.ConclusionWe observed a substantial reduction in leukemia due to occupational risks between 1990 and 2019. However, the people aged 65–69 years and burdens of ALL, AML, and CLL had a significantly increased trend in almost all age groups. Thus, there remains an urgent need to accelerate efforts to reduce leukemia attributable to occupational risk-related death burden in this population and specific causes.

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Section: Discussionmentioning

confidence: 99%

Global disease burden and trends of leukemia attributable to occupational risk from 1990 to 2019: An observational trend study

Shi

Chen

et al. 2022

Front. Public Health

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“…Moreover, the effect of gene mutations on the diagnosis and prognosis of the disease remains unknown. Related studies recently published by clinical centers at home and abroad [18,19] believe that the prognosis of patients with ALL with JAK family and NOTCH1 mutations is worse. However, the number of detected genes is lower .…”

Section: Analysis Of the Prognostic Factors Of Patients With B-allmentioning

confidence: 99%

Characteristics of Molecular Genetic Mutations and Their Correlation with Prognosis in Adolescent and Adult Patients with Acute Lymphoblastic Leukemia

Sun¹,

Liu²,

Liu³

et al. 2023

Oncology

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Introduction: The prognosis of acute lymphoblastic leukemia (ALL) in adolescents and adults is poor, and recurrence is an important cause of their death. Changes of genetic information play a vital role in the pathogenesis and recurrence of ALL; however, the impact of molecular genetic mutations on disease diagnosis and prognosis remains unexplored. This study aimed to explore the frequency spectrum of gene mutations and their prognostic significance, along with the minimal residual disease (MRD) level and hematopoietic stem cell transplantation (HSCT), in adolescent and adult patients aged ≥15 years with ALL. Methods: The basic characteristics, cytogenetics, molecular genetics, MRD level, treatment regimen, and survival outcome of patients with untreated ALL (≥15 years) were collected, and the correlation and survival analysis were performed using the SPSS 25.0 and R software. Results: This study included 404 patients, of which 147 were selected for next-generation sequencing (NGS). NGS results revealed that 91.2% of the patients had at least one mutation, and 67.35% had multiple (≥2) mutations. NOTCH1, PHF6, RUNX1, PTEN, JAK3, TET2, and JAK1 were the most common mutations in T-ALL, whereas FAT1, TET2, NARS, KMT2D, FLT3, and RELN were the most common mutations in B-ALL. Correlation analysis revealed the mutation patterns, which were significantly different between T-ALL and B-ALL. In the prognostic analysis of 107 patients with B-ALL, multivariate analysis showed that the number of mutations ≥5 was an independent risk factor for overall survival and the RELN mutation was an independent poor prognostic factor for event-free survival. Discussion: The distribution of gene mutations and the co-occurrence and repulsion of mutant genes in patients with ALL were closely related to the immunophenotype of the patients. The number of mutations ≥5 and the RELN mutation were significantly associated with poor prognosis in adolescent and adult patients with ALL.

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“…[6] Acute promyelocytic leukemia subtype M3 (AML M3) is a subtype of AML characterized by the presence of promyelocytic leukemiaretinoic acid receptor alpha (PML-RARA) genes fusion. [7,8] Targeted treatment with all-trans retinoic acid (ATRA) and ATRA combined with arsenic trioxide significantly improved the survival of AML M3 patients. However, unknown prognostic factors could contribute to the early death of these patients.…”

Section: Introductionmentioning

confidence: 99%

“…However, unknown prognostic factors could contribute to the early death of these patients. [8] Here, we describe the clinical outcome of a young AML M3 female patient, with chromosome 8 trisomy, PML-RARA gene fusion, and FLT3 internal tandem duplication (ITD) mutation, who was diagnosed with AML 5 months after she gave birth to her first child. Genetic investigations included conventional cytogenetic analysis and molecular techniques, such as ligationdependent reverse transcription polymerase chain reaction (LD-RT PCR), multiplex ligation-dependent probe amplification (MLPA), and NGS.…”

Section: Introductionmentioning

confidence: 99%

Co-occurrence of PML-RARA gene fusion, chromosome 8 trisomy, and FLT3 ITD mutation in a young female patient with de novo acute myeloid leukemia and early death

et al. 2020

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Rationale: Co-occurrence of cytogenetic and molecular abnormalities is frequently seen in patients with acute myeloid leukemia (AML). The clinical outcome and genetic abnormalities of AML may vary; therefore, genetic investigation must be complex, using several techniques, to have an appropriate characterization of the AML genome and its clinical impact. The available molecular markers can predict prognosis only partially. Acute promyelocytic leukemia subtype M3 (AML M3) is a subtype of AML characterized by the presence of promyelocytic leukemia-retinoic acid receptor alpha (PML-RARA) genes fusion. Targeted treatment with all-transretinoic acid (ATRA) and ATRA combined with arsenic trioxide significantly improved the survival of AML M3 patients. Unknown prognostic factors could contribute to the early death of these patients.Patient Concerns: We present the case of a young female (20 years old) patient, who presented at the emergency department 5 months after giving birth to her first child, complaining of asthenia, fatigue, general musculoskeletal pain, and fever (38°C), symptoms having been present for the previous 6 days. The patient denied any chronic diseases in her medical and family history.Diagnosis: Laboratory analysis revealed severe pancytopenia. Cytogenetic and molecular analyzes revealed chromosomal abnormalities (trisomy 8), PML-RARA gene fusion, and fms-like tyrosine kinase 3 (FLT3) gene mutation. The immunophenotypic analysis was also suggestive for AML M3 according to the FAB classification.Interventions: Specific treatment was initiated for AML M3 and for secondary conditions. Molecular and cytogenetic analyzes were performed to have a more detailed characterization of the patient's genome.Outcome: Seventy-two hours after admission, she developed psychomotor agitation, confusion, coma, and convulsion. Subsequent deterioration and early death were caused by intracerebral hemorrhage with multiple localization and diffuse cerebral edema.Lessons: The presence of FLT3 internal tandem duplication (ITD) mutation may explain the rapid and progressive degradation of this AML M3 case and it may be used as a prognostic marker even when co-occuring with other markers such as PML-RARA gene fusion and trisomy 8. We consider that FLT3 ITD mutation analysis in young patients with AML should be performed as soon as possible. New strategies for patients' education, AML (or cancers in general) prevention, and treatment are needed.Abbreviations: AML = acute myeloid leukemia, AML M3 = acute promyelocytic leukemia subtype M3, ATRA = all-trans retinoic acid, CEBPA = CCAAT/enhancer-binding protein alpha, CNC = copy number change, ELN = European LeukemiaNet, FLT3 = fms-Editor: N/A.

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Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia

Cited by 7 publications

References 6 publications

Global disease burden and trends of leukemia attributable to occupational risk from 1990 to 2019: An observational trend study

Global disease burden and trends of leukemia attributable to occupational risk from 1990 to 2019: An observational trend study

Characteristics of Molecular Genetic Mutations and Their Correlation with Prognosis in Adolescent and Adult Patients with Acute Lymphoblastic Leukemia

Co-occurrence of PML-RARA gene fusion, chromosome 8 trisomy, and FLT3 ITD mutation in a young female patient with de novo acute myeloid leukemia and early death

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