Table 1 Methods of clonality detection... | American Society of Hematology

Table 1

Methods of clonality detection

Marker	Detection method	Clinical application	Research application
Genotypic
Disease-associated somatic mutation	PCR; cytogenetics	Differentiation of clonal from reactive polyclonal processes; diagnosis and subtyping of leukemia and lymphoma; MRD monitoring in acute leukemia	Demonstration of clonal processes, lineage, clonal evolution
Immunoglobulin rearrangement	PCR	Differentiation of clonal from reactive polyclonal processes; demonstration of clonality, lineage, and differentiation of B-cell lymphoma/leukemia; MRD monitoring in B-cell lymphoma/leukemia	Demonstration of B-cell clonality, lineage, differentiation
T-cell–receptor rearrangement	PCR	Demonstration of clonality, lineage, and differentiation of T-cell lymphoma/leukemia; MRD monitoring in T-cell lymphoma/leukemia	Demonstration of T-cell clonality, lineage, differentiation
Phenotypic
Immunophenotype	Flow cytometry	Diagnosis of malignancy; determination of clonality, lineage; differentiation of leukemias/lymphomas; MRD monitoring in acute leukemias	Demonstration of clonality, lineage, clonal evolution
X-chromosome inactivation pattern	Protein isoform detection by electrophoretic mobility*; methylation of X-chromosome polymorphic region†; transcription-based assays‡	Differentiation of clonal from reactive polyclonal processes	Demonstration of clonality, lineage; elucidation of the hematopoietic hierarchy; possible identification of premalignant disease phases; facilitation of demonstration of subclonal development from unrelated somatic processes

Marker	Detection method	Clinical application	Research application
Genotypic
Disease-associated somatic mutation	PCR; cytogenetics	Differentiation of clonal from reactive polyclonal processes; diagnosis and subtyping of leukemia and lymphoma; MRD monitoring in acute leukemia	Demonstration of clonal processes, lineage, clonal evolution
Immunoglobulin rearrangement	PCR	Differentiation of clonal from reactive polyclonal processes; demonstration of clonality, lineage, and differentiation of B-cell lymphoma/leukemia; MRD monitoring in B-cell lymphoma/leukemia	Demonstration of B-cell clonality, lineage, differentiation
T-cell–receptor rearrangement	PCR	Demonstration of clonality, lineage, and differentiation of T-cell lymphoma/leukemia; MRD monitoring in T-cell lymphoma/leukemia	Demonstration of T-cell clonality, lineage, differentiation
Phenotypic
Immunophenotype	Flow cytometry	Diagnosis of malignancy; determination of clonality, lineage; differentiation of leukemias/lymphomas; MRD monitoring in acute leukemias	Demonstration of clonality, lineage, clonal evolution
X-chromosome inactivation pattern	Protein isoform detection by electrophoretic mobility*; methylation of X-chromosome polymorphic region†; transcription-based assays‡	Differentiation of clonal from reactive polyclonal processes	Demonstration of clonality, lineage; elucidation of the hematopoietic hierarchy; possible identification of premalignant disease phases; facilitation of demonstration of subclonal development from unrelated somatic processes

Limited to females of African origin.

†

Majority of females informative but influenced by environmental factors.

‡

Several polymorphic loci need to be screened, better differentiation of active from inactive X chromosome.

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