Background: Bone marrow is the most common site of metastases of epithelial malignancies from breast, lung, colon, prostate, ovaries and endometrium. These have poor prognosis as early tumor cells dissemination to bone marrow leads to poor treatment response. Bone marrow involvement by tumor cells can be seen on microscopic bone marrow examination and confirmed by immunohistochemistry. In this prospective observational study, we plan to analyze the incidence of bone marrow dissemination in epithelial malignancies and estimate the utility of immunohistochemistry in detecting micro metastases and correlate it with other clinicopathological parameters.Methods: clinical details and complete hematological workup was done in31 new cases of epithelial malignancies during our study period of one year. Bone marrow aspiration, bone marrow biopsy and clot section were done and analyzed morphologically and immunohistochemically using CK 7 and CK 20.Result: out of a total of 31 cases of epithelial malignancies, 2 cases of prostate carcinoma showed positive metastatic cell cluster and 2 cases of breast carcinoma and 1 case of lung carcinoma showed dispersed atypical cells in bone marrow.
Conclusion:Immunohistochemistry did not show any observed benefit than routine microscopy in diagnosing the bone marrow metastases. Small sample size and lack of ancillary techniques like polymerase chain reaction(PCR) are drawback in the diagnosis of isolated tumor cells, micro metastases and confirmation of the results obtained on immunohistochemistry. Extensive studies are required to elucidate the pathogenetic pathway and clinical implications of bone marrow metastatic cells for the diagnosis, staging and treatment of epithelial malignancies.
Background: The IDH1/2 mutation is an important epigenetic modifier involved in the pathogenesis of AML. It is associated with variable prognosis in AML cases. Lack of proper molecular diagnostic infrastructure and high cost limits the routine use of PCR with sequencing as routine diagnostic methodology. The aim of this study was to find the prevalence of IDH mutation in AML cases using both PCR with sequencing and Immunohistochemistry method.
Methods: We evaluated 60 patients registered at KGMU, Lucknow for diagnosis and treatment of AML. PCR followed by sequencing was done. IHC staining of the IDH1/2 mutation was performed on all cases using bone biopsy or clot section (in cases of pediatric AML cases).
Results: Out of the total 60 patients of AML 4(6.7%) patients had IDH1R312 mutation and 5(8.3%) Patients had IDH2R172 mutation. IDH2 R140 mutation was not detected in any sample. On immunohistochemistry analysis 10 cases showed positive staining against anti IDH1/2 mutant (R132/R172) antibody, clone MsMab-1 with a sensitivity of 77.8% and specificity of 94.1%.
Conclusion: IHC could be an alternative method to direct Sanger sequencing for IDH1/2 mutation detection in AML cases. However, the antibody used in the study is not effective for individual assessment of IDH1 and IDH2 mutation.
Keywords: Immunohistochemistry, Sanger sequencing, IDH1/2 Mutation, Acute Myeloid Leukemia
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