Evaluation of Microfluidics-FISH method in prenatal diagnosis.

OBJECTIVES: Classical cytogenetic analysis remains a gold standard in invasive prenatal diagnosis. Recently, Microfluidics¬-FISH, a novel method based on FISH, has been introduced. This integral approach allows to obtain result for common aneuploidies within the same day from a much smaller sample of the amniotic fluid. In this study we compare effectiveness of Microfluidics-FISH to classical karyotype and Rapid FISH. MATERIAL AND METHODS: 52 samples of amniotic fluid were drawn from the pregnant women due to common indications. Cell cultures have been set up for classical cytogenetic analysis as well as amniotic cells have been loaded into the microchip of Microfluidics-FISH as well standard procedure of Rapid FISH was performed for evaluation of trisomy 21, 13, 18 chromosome and sex chromosomes numeric aberrations. RESULTS: 9 samples out of 52 showed chromosomal aberrations in both FISH methods what was consistent with karyoty¬ping. One case of small supernumerary marker chromosome was detected only in the classical cytogenetic analysis. For the majority of cases turnaround time was shortest for Microfluidics-FISH and the average volume of sample was smallest. Microfluidics-FISH proved to be reliable and cost-effective rapid testing method of common aneuploidies. Recognizing, ho¬wever, limitations of methods based on FISH it cannot replace conventional karyotyping and be the sole method of diagnosis.

Hodgkin Lymphoma as a Secondary Neoplasm During Therapy for Chronic Myeloid Leukaemia: Case Report and Review of the Literature.

INTRODUCTION: Incidences of chronic myeloid leukaemia (CML) after treatment of Hodgkin lymphoma (HL) are well described. Here, we report a case of secondary HL in a patient with CML treated with dasatinib as a third-line treatment. PATIENT INFORMATION: A 64-year-old male was diagnosed with CML and initially treated with imatinib and then with nilotinib due to resistance. Finally, the patient experienced cardiovascular complications, and dasatinib was introduced. After 19 months of treatment, the patient experienced enlargement of lymph nodes that formed packs on the neck. INTERVENTIONS: Based on histopathological examination of the lymph nodes, a diagnosis of classical Hodgkin lymphoma - mixed cellularity was established. The patient was successfully treated with 4 cycles of AVD (adriamycin, vinblastine, dacarbazine) chemotherapy. OUTCOMES: Complete metabolic remission of Hodgkin lymphoma is currently sustained, and the molecular response to dasatinib at a reduced dose of 50 mg daily corresponds with a deep molecular response. CONCLUSION: In this report, we demonstrate the efficacy and safety of the combination of dasatinib and AVD regimens in coexisting CML and HL. This case report emphasizes the importance of insightful evaluation and differential diagnosis in cases of lymphadenopathy during CML treatment.