2 research outputs found
Darier's disease following radiotherapy for carcinoma of cervix
Darier-White disease is due to a defect in the ATP2A2 gene encoding the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase (SERCA2b). We report a case of carcinoma cervix in whom Darier's disease manifested after the initiation of radiation therapy. Conventional cytogenetics on peripheral blood revealed non-clonal constitutional autosomal and X chromosome abnormalities suggesting radiation induced gene toxicity. Occurrence of Darier's disease in our case could be due to treatment induced sustained differentiation in the Darier's affected skin by an unknown mechanism. Late onset or sporadic Darier's disease is the other possibility
Role of RT-PCR and FISH in diagnosis and monitoring of acute promyelocytic leukemia
Background: Patients with a presence of Promyelocytic Leukemia-Retinoic
Acid Receptor Alpha (PML-RARA) genes rearrangement predict a favorable
response to all-trans retinoic acid (ATRA), and a significant
improvement in survival. Therefore, establishing the presence of
PML-RARA rearrangement is important for optimal patient management.
Aim: The objective of this study is to compare and assess the role of
fluorescent in situ hybridization (FISH) and reverse transcriptase
polymerase chain reaction (RT-PCR) in the diagnosis and long-term
monitoring of Acute Promyelocytic Leukemia (APL). Materials and
Methods: We compared 145 samples received at different interval of
times to analyze the sensitivity of RT-PCR and FISH. Results: The
failure rate for RT-PCR was 4% at baseline, 13% at induction, and 0% at
the end of consolidation. And for FISH it was 8% at baseline, 38% at
induction, and 66% at the end of consolidation. The predictive values
of relapse in the patients who were positive and negative by RT-PCR, at
the end of induction, were 60 % and 3%, respectively, and at end of
consolidation it was 67 % and 4%, respectively. On the other hand the
predictive values of relapse in patients who were positive and negative
by FISH at end of induction were 57 % and 6%, respectively; while at
end of consolidation it was 14% who were negative by FISH. Conclusion:
Both RT-PCR and FISH are important for the diagnosis of APL cases, as
both techniques complement each other in the absence or failure of any
one of them. However, RT-PCR is more sensitive than FISH for the
detection of minimal residual disease in the long-term monitoring of
these patients. The present study shows that the predictive value of
relapse is more associated with minimal residual disease (MRD) results
by RT-PCR than that by FISH