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Cytogenetics findings in a histiocytic sarcoma case
J M Alonso-Dominguez1, M Calbacho, M Talavera
1Servicio de Hematología, Hospital Ramón y Cajal, Carretera de Colmenar Km 9, 100 28049 Madrid, Spain.
Insights
This study details a rare histiocytic sarcoma (HS) case in a 48-year-old male. The research highlights unique genetic alterations, including chromosome 8 trisomy and tetrasomy, in this challenging cancer diagnosis.
Area of Science:
- Oncology
- Hematology
- Cytogenetics
Background:
- Histiocytic sarcoma (HS) is a rare neoplasm originating from histiocytes.
- Diagnostic clarity for HS has improved with immunohistochemistry, but genetic insights remain limited.
- Understanding the genetic landscape of HS is crucial for diagnosis and treatment.
Purpose of the Study:
- To report a unique case of histiocytic sarcoma with novel cytogenetic findings.
- To characterize the immunohistochemical and cytogenetic profile of HS in a patient's bone marrow.
- To contribute to the limited knowledge of genetic alterations in histiocytic sarcoma.
Main Methods:
- Bone marrow biopsy and aspirate analysis.
- Immunohistochemical staining for lineage-specific markers (CD68, CD4, CD45).
- Cytogenetic analysis to identify chromosomal abnormalities and clonal evolution.
Main Results:
- The patient presented with bone marrow infiltration by monomorphic neoplastic cells.
- Immunohistochemistry revealed a profile of CD68(+), CD4(+), CD45(+).
- Cytogenetic studies identified four related clones with trisomy 8, tetrasomy 8, add(4)(p16), del(3)(q11), and t(3;5)(q25;q35).
Conclusions:
- This is the first reported case of histiocytic sarcoma exhibiting both trisomy and tetrasomy of chromosome 8.
- The identified chromosomal alterations represent a unique genetic signature for this HS case.
- Further research into these genetic abnormalities may offer new diagnostic and therapeutic avenues for HS.
Abstract:
Histiocytic sarcoma (HS) is a neoplasm derived from histiocytes. Its diagnosis was not clear until its immunohistochemistry profile was correctly established. Not much is known about its genetic properties. We report a case of a 48-year-old male patient whose bone marrow was almost completely occupied by monomorphic medium size neoplastic cellularity. Its immunohistochemical profile was CD68(+), CD4(+), CD45(+) with negativity of other dendritic cells, and other lineage markers. Cytogenetic study showed 4 related clones: one with trisomy 8 and extra material on the short arms of chromosome 4; a second line with tetrasomy of chromosome 8, add(4)(p16); the third clone had the same alterations as the previous and deletion of chromosome 3 at q11; the fourth line had tetrasomy 8 and translocation t(3;5)(q25;q35). To our knowledge this is the first HS case showing chromosome 8 trisomy and tetrasomy and the other described alterations.
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