NGS detection of blood tumor genes

Author:Reqbio source:Reqbio date:2022-12-26

WHO classification of hematological neoplasms


Proliferative manifestations of malignant cells from the hematological system


Myeloid neoplasms: myeloproliferative disorders (MPDs), myelodysplastic syndromes (MDSs), myelodysplastic/myeloproliferative disorders (MDS/MPDs), acute myeloid leukemia (AMLS)


Lymphoid tumors: T/NK cell tumors, B cell tumors, Hodgkin's disease


Histiocytic tumors: macrophage/histiocytic tumors, dendritic cell tumors


Mast cell neoplasms: Cutaneous mastocytosis, systemic mastocytosis (+/- cutaneous involvement), systemic mastocytosis with associated hematologic abnormalities (+/- cutaneous involvement), mast cell leukemia/sarcoma



Common Blood Cancers

Leukemia Acute Acute Lymphoblastic Leukemia (ALL) Acute Myeloid Leukemia (AML)

                  Chronic Myelogenous Leukemia (CML) Chronic Lymphocytic Leukemia (CLL)

Lymphoma Hodgkin Lymphoma (HL); Non-Hodgkin Lymphoma (NHL)

Multiple myeloma (MM)

Myeloproliferative neoplasms (MPN) Polycythemia; Essential thrombocythemia; Myelofibrosis

Myelodysplastic Syndrome (MDS)


Detection gene


Hematological tumor-related detection genes are formulated jointly by clinical hematological oncology experts and laboratory experts, mainly based on the guidelines or expert consensus issued by the Chinese Anti-Cancer Association, Chinese Medical Association, WHO, NCCN and other institutions for the diagnosis and treatment of hematological diseases. Important genes reported in other authoritative literature can be included in the gene list after verification.


Detection area


The area covered by the detected genes can refer to clinical diagnosis and treatment guidelines, authoritative databases, literature, etc.


Gene hotspot mutation regions or coding regions of important structural domains, for example, NPM1 gene c.860_863 is a hotspot mutation region;


Genes with no clear hotspot mutation regions or scattered distribution of mutation sites, such as TP53, RUNX1, etc.; genes with untranslated region (UTR) mutations, such as BCL6.


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We can provide diagnostic standards to ensure the detection limit, sensitivity and stability of diagnostic methods. 


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