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INTRODUCTION: The diagnosis of Hodgkin lymphoma (HL) is defined in terms of its microscopic appearance (histology) and the expression of cell surface markers (immunophenotype). AIMS AND OBJECTIVES: This study aims to analyze the clinical features, histomorphology, and immunoprofile of over 200 patients of HL diagnosed over a period of 4 years at our institute and to determine relative frequency of various histological subtypes (based on WHO classification) in relation to age and sex distribution in this part of the country. MATERIALS AND METHODS: All HL cases diagnosed between January 2006 and December 2009 were retrieved from hospital records. The histopathology of both lymph node and bone marrow biopsy (where ever available) along with immunohistochemistry (CD15, CD30, CD20, and ALK) were reviewed. RESULTS: There was a bimodal age distribution. HL affected people a decade earlier than in the western population. The most common presenting complaint was cervical lymphadenopathy. Mixed cellularity was the most frequent subtype (67%), followed by nodular sclerosing subtype (23.5%). Group A (CD15+, CD30+, CD20-), which represents the archetypical immunophenotype of classical HL (CHL) was the most common type (60.6%). The number of CD15 negative CHL was 35.8% and CD20 positive CHL was 17.5%. CD15 negativity with CD20 positivity was seen in 5% CHL. One out of seven CD20 positive CHL patients showed relapse. CONCLUSION: In this paper, we have discussed in detail about various clinical and histopathological parameters of HL and their relative frequency in various histological subtypes. This paper is being presented as it is a rather large study from India taking into consideration the clinical, pathologic, and immunophenotypic profile of the patients.
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OBJECTIVE: Cytochrome P450 is one of the major drug metabolizing enzyme families and its role in metabolism of cancer drugs cannot be less emphasized. The association be- tween single nucleotide polymorphisms (SNPs) in CYP1A1 and pathogenesis of chronic myeloid leukemia (CML) has been investigated in several studies, but the results observed vary based on varied risk factors. The objective of this study was to investigate the risk factors associated with the CYP1A1*2C [rs1048943: A>G] polymorphism in CML patients and its role in therapeutic response to imatinib mesylate (IM) affecting clinico-pathological parameters, in the Indian population. MATERIALS AND METHODS: In this case-control study, CYP1A1*2C was analysed in CML patients. After obtaining approval from the Ethics Committee of oncology hospital, we collected blood samples from 132 CML patients and 140 matched controls. Genom- ic DNA was extracted and all the samples were analysed for the presence of the CYP1A1*2C polymorphism using allele-specific polymerase chain reaction, and we examined the relationship of genotypes with risk factors such as gender, age, phase of the disease and other clinical parameters. RESULTS: We observed a significant difference in the frequency distribution of CYP1A1*2C genotypes AA (38 vs. 16%, P=0.0001), AG (57 vs. 78%, P=0.0002) and GG (5 vs. 6%, P=0.6635) between patients and controls. In terms of response to IM therapy, significant variation was observed in the frequencies of AA vs AG in major (33 vs 67%) and poor (62 vs 31%) hematological responders, and AA vs AG in major (34 vs. 65%) and poor (78 vs. 22%) cytogenetic responders. However, the patients with the GG homozygous genotype did not show any significant therapeutic outcome. CONCLUSION: The higher frequency of AG in controls indicates that AG may play a protec- tive role against developing CML. We also found that patients with the AG genotype showed favorable treatment response towards imatinib therapy, indicating that this polymorphism could serve as a good therapeutic marker in predicting response to such therapy.
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BACKGROUND: The current study was aimed to elucidate the association of thymidylate synthase (TYMS) 5'- UTR 28bp tandem repeat and cytosolic serine hydroxymethyltransferase (cSHMT) C1420T polymorphisms with acute leukemia in South Indian subjects. A total of 812 subjects [523 healthy controls, 148 acute lymphoblastic leukemia (ALL) cases and 141 acute myeloid leukemia (AML) cases] were screened for TYMS 5'-UTR 28bp tandem repeat and cSHMT C1420T using PCR-AFLP and PCR-with confronting two-pair primers (CTPP) approaches. TYMS 5'-UTR 2R allele frequencies of controls, ALL and AML cases were 35.3%, 28.0% and 30.1% respectively. This polymorphism conferred protection against ALL (OR: 0.71, 95%CI: 0.53-0.96) while showing no statistically significant association with AML (OR: 0.79, 95%CI: 0.58, 1.07). The cSHMT variant allele (T-) frequencies of ALL and AML cases (6.42% and 5.68% respectively) were significantly lower compared to controls (58.3%). This polymorphism conferred protection against ALL (OR: 0.049, 95%CI: 0.029-0.081) and AML (OR: 0.043, 95%CI: 0.025-0.074). The TYMS 5'-UTR 2R2R genotype was associated with a lower total leukocyte count, smaller percentage of blasts, and more adequate platelet count compared to 2R3R and 3R3R genotypes in ALL cases. No such genotype-dependent differences were observed in AML cases. ALL cases carrying the cSHMT C1420T polymorphism showed higher disease free survival compared to those with the wild genotype. To conclude, the TYMS 5'-UTR 28bp tandem repeat reduces risk for ALL while cSHMT C1420T reduces risk for both ALL and AML. Both also influence disease progression in ALL.
