Determination of minimal residual disease in leukaemia patients

Immunophenotyping of acute leukemias and myelodysplastic syndromes

“…Also, the absence of reactivity for CD10 would represent an aberrant phenotype. In fact, during the last decade it has been shown (23,24,42,(45)(46)(47) that both precursor-B and T ALL display aberrant phenotypes in more than 95% of the cases. This allows for an unequivocal discrimination between normal and leukemic lymphoid precursors in the BM (45)(46)(47), peripheral blood (PB) (45), and other body fluids (23,48).…”

“…For that purpose, it is required that leukemic cells display aberrant phenotypes, since with a few exceptions, the detection of tumor specific antigens cannot be applied routinely (23,24). Aberrant phenotypes are present in most ALL (Ͼ95%) (23,24,(45)(46)(47)85) and AML cases (Ͼ75%) (23,24,(71)(72)(73)(74)(75)(76). They are typically defined by: 1) cross-lineage antigen expression (e.g., expression of CD5 in AML or CD33 in ALL); 2) asynchronous antigen expres- D, and F).…”

“…More recently, it has also proven to be of great help for the screening of genetic abnormalities (14 -22), the follow-up of minimal residual disease (MRD) (23)(24)(25), monitoring of patient-specific therapies (26,27), and the study of MDS (28,29). These new applications of flow cytometry immunophenotyping mainly rely on the concept that even if neoplastic cells show a great similarity to normal hematopoietic precursors, they frequently display aberrant phenotypes that allow their specific identification and discrimination from normal cells, even when present at very low frequencies (23)(24)(25). To a large extent, such aberrant phenotypes would be a consequence of the genetic abnormalities accumulated by the neoplastic cell (14 -22).…”

Differential expression of 9‐O‐acetylated sialoglycoconjugates on leukemic blasts: A potential tool for long‐term monitoring of children with acute lymphoblastic leukemia

“…Use of peripheral blood to detect MRD is debatable 42 as 2 recent studies 43,44 have shown that paired MRD values in BM and peripheral blood are highly concordant in T-ALL. Conversely, large differences frequently occur in B-ALL, where levels are much higher in BM than in peripheral blood.…”

Current Role of Genetics in Hematologic Malignancies

“…The detection of residual disease is usually based on either molecular or immune-phenotypical markers present in malignant cells. Variety of techniques can be used for detection of MRD, including immunophenotyping, cytogenetics, FISH, Southern blotting, spectral karytyping, PCR, and deep sequencing [26][27][28].…”