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Published on: November 3, 2018
Differential diagnosis based on immunological-phenotyping in suspected malignant bone marrow involvement in childhood
E S Gussetis1, D Schwabe, V Gerein
1Pediatric Clinic of Johann Wolfgang Goethe University, Division of Hematology and Oncology, Frankfurt, Germany.
Insights
Immunophenotyping (IP) aids in diagnosing childhood bone marrow diseases by identifying specific cell types. However, IP complements, but cannot replace, conventional diagnostic methods for accurate malignancy detection.
Area of Science:
- Pediatric Hematology Oncology
- Immunology
- Diagnostic Pathology
Background:
- Childhood bone marrow (BM) diseases require accurate and timely diagnosis.
- Conventional morphological-cytochemical (MC) studies have limitations in diagnosing certain BM infiltrates or mimics.
- Immunophenotyping (IP) offers a cellular-level analysis for improved diagnostic capabilities.
Purpose of the Study:
- To evaluate the diagnostic utility of immunophenotyping (IP) as a primary method for childhood bone marrow diseases.
- To compare the diagnostic performance of IP against conventional morphological-cytochemical (MC) studies.
- To determine if IP can replace or supplement existing diagnostic protocols.
Main Methods:
- Analyzed 250 unselected pediatric BM samples using both IP and MC studies.
- Applied the alkaline phosphatase anti-alkaline phosphatase method with monoclonal antibodies (Mabs).
- Mabs targeted leukocyte-associated, neuroectodermal, and intermediate filament antigens.
Main Results:
- IP diagnosed four neuroblastoma, two Ewing sarcoma, and one rhabdomyosarcoma case missed by MC studies.
- IP identified specific lineages in nine acute leukemia cases where MC studies were inconclusive.
- Eight samples without malignant morphology showed immature B cell precursors (CD10+, TdT+), not indicative of subsequent malignancy.
Conclusions:
- Immunophenotyping (IP) effectively discriminates between malignant cell populations in pediatric BM.
- IP does not inherently recognize malignancy; it identifies cell types and lineages.
- IP serves as a valuable supplement to, but not a replacement for, conventional diagnostic methods.
Abstract:
The diagnostic value of immunophenotyping (IP) as a first-line diagnostic method in diseases that infiltrate the childhood bone marrow (BM) or mimic infiltrated BM was examined. Two hundred and fifty unselected BM samples from 250 children suspected to have a malignancy infiltrating their BM were evaluated by means of IP and conventional morophological-cytochemical (MC) studies. We applied the alkaline phosphatase anti-alkaline phosphatase method for IP using a panel of monoclonal antibodies (Mabs) against leukocyte-associated antigens, neuroectodermal antigens, and intermediate filament antigens. Four cases of neuroblastoma, two cases of Ewing sarcoma, and one case of rhabdomyosarcoma were diagnosed by IP but not by MC studies. In nine cases of acute leukemia bone marrow blasts could not be ascribed to a specific lineage on the basis of blast morphology or histochemistry. Eight samples without morphological evidence of malignant infiltration revealed an increased percentage of immature B cell precursors (CD10+, TdT+) suggesting acute lymphoblastic leukemia. None of these children has developed malignant lymphoproliferative disease. Our data suggest that the immunological evaluation of BM in childhood is highly capable of discriminating between different malignant populations but it does not recognize malignancy and therefore supplements but cannot replace conventional methods for diagnosis.

