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2003| October-December | Volume 40 | Issue 4
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Cytogenetics and fluorescence In-situ hybridization in detection of hematological malignancies
VinSheth J Frenny, Z Antonella, A Luisa, AD Shah, JJ Sheth, M Rocchi
October-December 2003, 40(4):135-139
: The technique of Fluorescence
Hybridization (FISH), a hybrid of cytogenetics and molecular biology has increased the resolution and application of cytogenetics in various neoplastic processes. In various types of leukemias, primary investigation by conventional cytogenetic [CC] technique followed by FISH has increased our understanding of the abnormal clonal formation involving different gene region.
: Present study is aimed to use different kinds of in-house FISH probes in various hematological malignancies and its correlation with conventional cytogenetic finding.
MATERIAL AND METHODS:
Cytogenetic study was carried out in 360 patients either from peripheral blood or from bone marrow cells suspected for various types of leukemias. Four of 360 cases were further selected for FISH study by using different types of in-house probes, such as BAC [Bacterial Artificial Chromosome], PAC [Phague Artificial Chromosome], alphoid, PCP [Partial Chromosome Paint] and WCP [Whole Chromosome paint].
: The results confirmed breakpoints of inversion 16 and del 16 in case 2 and 3 respectively. Whereas, case 1 did not confirm the cytogenetic findings of t(15;17) by PML/RARa fusion signals as multiple cell lines were involved in the patients. PCP and WCP were helpful in the identification of the marker chromosome in case 1. Telomeric and centromeric probes confirmed the cytogenetic findings of t(5;7) in case 4.
: We observe from this study that, in addition to the conventional cytogenetic study, FISH study provide further confirmation of chromosomal rearrangements. This facilitates our understanding of the neoplastic process more precisely for the better prognostification of the patient.
Chronic myeloid leukemia presenting with absence of basophils and marked dyspoiesis
M Anand, Rajive Kumar, L Kumar, S Barge, S Singh
October-December 2003, 40(4):144-147
A 61-year old woman presented to us with fever, weakness and ecchymotic patches for one year. She had leucocytosis, anemia and thrombocytopenia. Peripheral blood smear showed 62% neutrophils, 32% myelocytes and metamyelocytes, 2% promyelocytes, 1% blasts, 2% monocytes, 1% lymphocytes but no basophils and marked dyspoiesis. Bone marrow picture was essentially the same. A diagnosis of atypical chronic myeloid leukemia was suggested. The correct diagnosis of chronic myeloid leukemia - accelerated phase was, however, made on cytogenetic analysis which showed Philadelphia chromosome (Ph) and isochromosome 17q [i(17q)]. This case describes a rare and diagnostically difficult presentation of CML arising out of a combination of prominent dyspoiesis and near absence of peripheral blood basophils.
Summated chemotherapy dose-intensity versus loco-regional response in locally advanced breast cancer: Its possible implications
NR Datta, A Rajkumar, R Basu
October-December 2003, 40(4):127-134
: Summated dose-intensity (SDI) of chemotherapy regimen could influence the outcome in malignancies.
: To evaluate the implication of SDI and identify key drugs for loco-regional response in locally advanced breast cancer (LABC). Settings and design: This retrospective study was based on audit of records of LABC patients who had received neoadjuvant chemotherapy (NACT).
MATERIAL AND METHODS
: Actual unit dose-intensity (UDI) of each drug and corresponding SDI of every doxorubicin (n=116 cycles) or non-doxorubicin (n=110 cycles) based NACT received by 42 patients of LABC were summated. Cumulative dose-intensity (CDI) for individual drugs and cumulative SDI (CSDI) for the entire course of NACT were estimated and correlated with quantum of primary tumor, axillary and supraclavicular nodal responses.
STATISTICAL ANALYSIS USED
: Two-sided chi-square, t-test, step-wise regression was used.
: Dose-response curve between CSDI and corresponding responses for both primary and lymph nodes were sigmoid in shape for both doxorubicin or non-doxorubicin based NACT. Curves were best fitted using a cubic fit for all patients (r2 = 0.82, 0.84 and 0.93 for primary tumor, axillary and supraclavicular lymph nodes respectively). CSDI emerged as an important prognosticators for both primary
responses. Individually, CDI of 5-fluorouracil for primary
, CDIs of doxorubicin
for axillary nodes and CDI of cyclophosphamide
for supraclavicular nodes were significant.
: Loco-regional responses in LABC are dependent on CSDI of NACT regimen. Drugs for high-dose intensification protocols could be identified and chosen based on the impact of CDI of individual drugs in NACT.
Early relapse after non myeloablative allogeneic stem cell transplantation in a patient with acute promyelocytic leukemia in complete molecular remission
E Tavernier, Xavier Thomas
October-December 2003, 40(4):140-143
We described a 41-year-old patient with acute promyelocytic leukemia (APL) who experienced two successive relapses: one after all-
retinoic acid (ATRA) treatment and chemotherapy, and another after ATRA treatment and chemotherapy, followed by autologous peripheral blood stem cell transplantation. A third complete remission (CR) was achieved with arsenic trioxide (As2O3) therapy. Mini-transplantation was performed as consolidation therapy. While the patient was in molecular remission at the beginning of conditioning regimen, a new relapse arose after transplantation at time of cell recovery. This raises a potential relationship between relapse and the severe immunosuppression induced by mini-transplantation. To our knowledge, this is the first description of a mini-allograft in an APL patient achieving molecular remission after As2O3 therapy.
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