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Cancer Pathogenesis and Therapy logoLink to Cancer Pathogenesis and Therapy
editorial
. 2024 Nov 6;3(4):276–277. doi: 10.1016/j.cpt.2024.09.001

Advanced molecular diagnostics: Driving precision in hematological malignancies

Li Bao 1,, Xuechun Lu 2, Yaozhu Pan 3
PMCID: PMC12277828  PMID: 40697514

Morphology, immunology, cytogenetics, and molecular biology (MICM) diagnostic systems have become the industry standard in the fields of hematological disease diagnosis and treatment.1 With the rapid development of molecular biology and genomics technologies, the molecular diagnosis and treatment of blood tumors have made remarkable progress, providing patients with more precise and effective treatment strategies. The special issue, which is titled“Precision medicine in hematological cancers”, is focused on numerous challenges in the treatment of hematological malignancies, including drug resistance, adverse events, and disease recurrence, and explore methods to integrate the latest molecular assays to improve diagnostic accuracy and treatment safety.

The article by Hou et al.2 reviewed the latest research progress on the effects of immune aging and inflammation on the efficacy of immune checkpoint inhibitors (ICIs) and explains that age-related changes in the immune system may reduce the effectiveness of ICIs in elderly patients. This highlights the necessity for personalized treatment strategies that consider the patient's age and immune status.

Huang et al.3 analyzed clinical data and genetic mutations based on next-generation sequencing (NGS) in 124 patients newly diagnosed with acute myeloid leukemia (AML) and treated with the decitabine, cytarabine, aclarubicin, and granulocyte colony-stimulating factor (DCAG) regimen. Patients with protein tyrosine phosphatase non-receptor type 11 (PTPN11) mutations demonstrated dismal overall outcomes, indicating the need for new therapies targeting this high-risk AML subtype. These findings provide potential molecular stratification and treatment guidelines for patients with AML.

Wang et al.4 considered second-generation sequencing in patients newly diagnosed with multiple myeloma and analyzes its correlation with clinical features and fluorescence in situ hybridization (FISH). The authors found that the mutation distribution was similar to that reported in Western countries. Mutations affecting RNA pathways were more common in males and patients <70 years of age. International Staging System (ISS) stage III was associated with mutations in the NF-κB pathway, while revised ISS (R–ISS) stage III was associated with changes in DNA damage repair pathways. Cytogenetic abnormalities detected by FISH were also associated with gene mutations.

Overall, the diagnosis and treatment of hematologic neoplasms are complex and challenging. Although molecular detection has improved, the diagnostic accuracy, and the existence of various difficult and rare cases, require clinicians to accumulate clinical experience and study cases carefully. This includes some cases5,6 that have been reported in the form of letters to raise awareness among clinicians.

The articles in this special issue not only explore the molecular diagnosis of hematologic neoplasms and future treatment expectations but also review the effects of immunotherapy and reports on rare cases. Through the comprehensive reports presented in this special issue, we aim to bring improvements in the research and clinical practice of hematologic neoplasms and advance the implementation of precision medicine and personalized treatment strategies.

Authors contribution

Xuechun Lu, Yaozhu Pan, and Bao Li wrote the paper and were responsible for critical review of the manuscript.

Ethics statement

None.

Declaration of generative AI and AI-assisted technologies in the writing process

The authors declare that generative artificial intelligence (AI) and AI assisted technologies were not used in the writing process or any other process during the preparation of this manuscript.

Funding

None.

Conflict of interest

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Acknowledgments

None.

Managing Editor: Peng Lyu

Data availability statement

The datasets used in the current study are available from the corresponding author on reasonable request.

References

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Associated Data

This section collects any data citations, data availability statements, or supplementary materials included in this article.

Data Availability Statement

The datasets used in the current study are available from the corresponding author on reasonable request.


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