Background: Pediatric small round cell tumours (SRCTs) are a
group of aggressive cancers that look very similar under the microscope, making
them difficult to tell apart based on appearance alone. An accurate diagnosis
is critical because each type requires different treatment.
Immunohistochemistry (IHC) has emerged as an essential adjunct in the
diagnostic workup, enabling precise lineage assignment through the detection of
differentiation-specific antigens. Despite its widespread use, diagnostic
ambiguity persists, particularly in resource-limited settings where antibody
panels may be restricted or tissue preservation suboptimal.
Aim: This study aimed to test how effective a standard panel
of immunohistochemistry (IHC) stains is at providing a definitive diagnosis for
these challenging tumours.
Methods: A prospective study was conducted on 100 children
with SRCTs. Cases were included if they showed histological evidence of a
malignant SRCT on haematoxylin and eosin (H&E)-stained sections, had
adequate formalin-fixed paraffin-embedded (FFPE) tissue for a complete
immunohistochemical (IHC) workup. After an initial review under the microscope,
all cases were tested with a targeted IHC panel designed to identify different
tumour lineages (including CD99, myogenin, CD45, and synaptophysin).
Results: Initial microscopic examination failed to provide a
specific diagnosis in 71% of cases, labelling them only as
"undifferentiated." The IHC panel successfully resolved 99% of all
cases, providing a specific diagnosis. The Ewing sarcoma family (50%) was the
most common tumour, followed by embryonal rhabdomyosarcoma (17%).
Conclusion: A systematic IHC panel is a highly effective and
essential tool for diagnosing pediatric SRCTs. It resolves the vast majority of
ambiguous cases, ensuring that children receive the correct diagnosis as the
crucial first step towards appropriate therapy. Study limitations include a
single-centre, prospective design, which may introduce selection bias, as
evidenced by a high proportion of bone and soft tissue tumours. Future
investigation should involve multicenter cohorts with more diverse tumour types
to validate the generalizability of these findings.
Author(s) Details
Divya Jain
Department of Pathology, Government Medical College, Alwar, India.
Achin Gupta
Department of Anaesthesia, Govt Medical College, Alwar, India.
Neeraj Raman
Department of Microbiology, Govt Medical College, Alwar, India.
Amandeep
Department of Pediatrics, Government Medical College, Alwar, India.
Please see the book here :- https://doi.org/10.9734/bpi/msup/v3/6878
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