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Special Issue "Clinical and Molecular Diagnosis of Hematologic Malignancies"

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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Hematology".

Deadline for manuscript submissions: 10 June 2023 | Viewed by 2331

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Prof. Dr. Peng Liu

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Guest Editor

Department of Hematology, Zhongshan Hospital, Fudan University, Shanghai, China
Interests: mechanism studies; translational studies; clinical studies of hematolymphoid tumors including multiple myeloma, lymphoma, and leukemia.

Special Issue Information

Dear Colleagues,

In recent decades, rapid progress in biotechnology and the increasing application of multi-omics studies has largely deepened our knowledge of biological features of hematolymphoid neoplasms. As this great amount of new evidence has been translated into high-throughput molecular diagnostic tools, the diagnostic pattern of hematological malignancies has been profoundly re-shaped, with a deliberate attempt made to prioritize classifying tumor types based on defining genetic abnormalities according to the latest 2022 WHO classification of hematolymphoid tumors. Meanwhile, personalized, targeted treatment based on molecular diagnosis has greatly improved the outcomes of patients with hematolymphoid tumors. In the era of precision medicine, embedding novel molecular findings and multi-omics notions into clinical management is the new goal. This Special Issue aims at providing new insights about the updates in the molecular diagnosis and clinical management of hematolymphoid tumors.

Prof. Dr. Peng Liu
Guest Editor

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Keywords

hematolymphoid tumors
genetic alterations
lymphoma
leukemia
myeloma
precision medicine

Published Papers (4 papers)

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Research

Open AccessArticle

Machine Learning Model Based on Optimized Radiomics Feature from ¹⁸F-FDG-PET/CT and Clinical Characteristics Predicts Prognosis of Multiple Myeloma: A Preliminary Study

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J. Clin. Med. 2023, 12(6), 2280; https://doi.org/10.3390/jcm12062280 - 15 Mar 2023

Viewed by 267

Abstract

Objects: To evaluate the prognostic value of radiomics features extracted from ¹⁸F-FDG-PET/CT images and integrated with clinical characteristics and conventional PET/CT metrics in newly diagnosed multiple myeloma (NDMM) patients. Methods: We retrospectively reviewed baseline clinical information and ¹⁸F-FDG-PET/CT imaging data of MM patients with ¹⁸F-FDG-PET/CT. Multivariate Cox regression models involving different combinations were constructed, and stepwise regression was performed: (1) radiomics features of PET/CT alone (Rad Model); (2) Using clinical data (including clinical/laboratory parameters and conventional PET/CT metrics) only (Cli Model); (3) Combination radiomics features and clinical data (Cli-Rad Model). Model performance was evaluated by C-index and Net Reclassification Index (NRI). Results: Ninety-eight patients with NDMM who underwent ¹⁸F-FDG-PET/CT between 2014 and 2019 were included in this study. Combining radiomics features from PET/CT with clinical data showed higher prognostic performance than models with radiomics features or clinical data alone (C-index 0.790 vs. 0.675 vs. 0.736 in training cohort; 0.698 vs. 0.651 vs. 0.563 in validation cohort; AUC 0.761, sensitivity 56.7%, specificity 85.7%, p < 0.05 in training cohort and AUC 0.650, sensitivity 80.0%, specificity78.6%, p < 0.05 in validation cohort) When clinical data was combined with radiomics, an increase in the performance of the model was observed (NRI > 0). Conclusions: Radiomics features extracted from the PET and CT components of baseline ¹⁸F-FDG-PET/CT images may become an effective complement to provide prognostic information; therefore, radiomics features combined with clinical characteristic may provide clinical value for MM prognosis prediction. Full article

(This article belongs to the Special Issue Clinical and Molecular Diagnosis of Hematologic Malignancies)

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Open AccessArticle

The Significance of CD20 Intensity Variance in Pediatric Patients with B-Cell Precursor Acute Lymphoblastic Leukemia

Andreea Nicoleta Serbanica

Luminita Nicoleta Cima

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J. Clin. Med. 2023, 12(4), 1451; https://doi.org/10.3390/jcm12041451 - 11 Feb 2023

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Abstract

B-cell precursor acute lyphoblastic leukemia (ALL) is a common pediatric malignancy and patients may have significant benefits from monoclonal antibodies therapy with increased survival rates. Positive CD20 expression is identified in about half of these patients and its presence may serve as a prognostic factor in disease evolution. We performed a retrospective study including 114 patients diagnosed with B-ALL and evaluated the expression of CD20 through flow cytometry at diagnosis and on day 15. Additional immunophenotypic analyses as well as cytogenetic and molecular genetic analyses were also performed. We observed an increase in the mean fluorescence intensity (MFI) of CD20 between diagnosis—1.9 (1.2–3.26) and day 15: 6.17 (2.14–27.4), (p < 0.0001). Furthermore, we assessed that both diagnosis and day 15 CD20 MFI had an impact on RFS and OS, respectively, for cut-off values of >8.08 at diagnosis and >28.65 at day 15. In conclusion, CD20 expression appears to be a poor prognostic feature of B-ALL in pediatric patients. In this study, stratification of the outcome by the intensity of CD20 has implications concerning the allocation to rituximab-based chemotherapy and may offer new, potentially useful information for pediatric patients with B-ALL. Full article

(This article belongs to the Special Issue Clinical and Molecular Diagnosis of Hematologic Malignancies)

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Open AccessArticle

Spectrum of Genetic Mutations in Korean Pediatric Acute Lymphoblastic Leukemia

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J. Clin. Med. 2022, 11(21), 6298; https://doi.org/10.3390/jcm11216298 - 26 Oct 2022

Cited by 1 | Viewed by 606

Abstract

The wide application of next-generation sequencing (NGS) technologies has led to the discovery of multiple genetic alterations in pediatric acute lymphoblastic leukemia (ALL). In this work, we aimed to investigate the mutational spectrum in pediatric ALL. We employed a St. Mary’s customized NGS panel comprising 67 leukemia-related genes. Samples were collected from 139 pediatric ALL patients. Eighty-five patients (61.2%) harbored at least one mutation. In B-cell ALL, the RAS pathway is the most involved pathway, and the three most frequently mutated genes were NRAS (22.4%), KRAS (19.6%), and PTPN11 (8.4%). NRAS and PTPN11 were significantly associated with a high hyperdiploidy karyotype (p = 0.018 and p < 0.001, respectively). In T-cell ALL, the three most frequently mutated genes were NOTCH1 (37.5%), FBXW7 (16.6%), and PTEN (6.2%). Several pairs of co-occurring mutations were found: NRAS with SETD, NRAS with PTPN11 in B-cell ALL (p = 0.024 and p = 0.020, respectively), and NOTCH1 with FBXW7 in T-cell ALL (p < 0.001). The most frequent newly emerged mutation in relapsed ALL was NT5C2. We procured comprehensive genetic information regarding Korean pediatric ALL using NGS technology. Our findings strengthen the current knowledge of recurrent somatic mutations in pediatric ALL. Full article

(This article belongs to the Special Issue Clinical and Molecular Diagnosis of Hematologic Malignancies)

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Open AccessArticle

Transcriptomic Analysis of Conserved Telomere Maintenance Component 1 (CTC1) and Its Association with Leukemia

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J. Clin. Med. 2022, 11(19), 5780; https://doi.org/10.3390/jcm11195780 - 29 Sep 2022

Cited by 1 | Viewed by 694

Abstract

Telomere length (TEL) regulation is important for genome stability and is governed by the coordinated role of shelterin proteins, telomerase (TERT), and CST (CTC1/OBFC1/TEN1) complex. Previous studies have shown the association of telomerase expression with the risk of acute lymphoblastic leukemia (ALL). However, no data are available for CST association with the ALL. The current pilot study was designed to evaluate the CST expression levels in ALL. In total, 350 subjects were recruited, including 250 ALL cases and 100 controls. The subjects were stratified by age and categorized into pediatrics (1–18 years) and adults (19–54 years). TEL and expression patterns of CTC1, OBFC1, and TERT genes were determined by qPCR. The univariable logistic regression analysis was performed to determine the association of gene expression with ALL, and the results were adjusted for age and sex in multivariable analyses. Pediatric and adult cases did not reflect any change in telomere lengths relative to controls. However, expression of CTC1, OBFC1, and TERT genes were induced among ALL cases. Multivariable logistic regression analyses showed association of CTC1 with ALL in pediatric [β estimate (standard error (SE)= −0.013 (0.007), p = 0.049, and adults [0.053 (0.023), p = 0.025]. The association of CTC1 remained significant when taken together with OBFC1 and TERT in a multivariable model. Furthermore, CTC1 showed significant association with B-cell ALL [−0.057(0.017), p = 0.002) and T-cell ALL [−0.050 (0.018), p = 0.008] in pediatric group while no such association was noted in adults. Together, our findings demonstrated that telomere modulating genes, particularly CTC1, are strongly associated with ALL. Therefore, CTC1 can potentially be used as a risk biomarker for the identification of ALL in both pediatrics and adults. Full article

(This article belongs to the Special Issue Clinical and Molecular Diagnosis of Hematologic Malignancies)

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