Introduction: Multiple myeloma (MM) is characterized by genomic instability and cytogenetic abnormalities (CAs). The variation in rates of treatment response and overall survival is thought to arise from multiple genomic events that result in tumour development and progression. This study investigated CAs among the newly diagnosed MM (NDMM) patients at diagnosis and during follow-up and subsequently to assess their prognostic significance. Meth- ods: This is a prospective cohort study where bone marrow (BM) samples of 16 NDMM patients were collected at diagnosis and during follow up and subjected to conventional cytogenetic analysis (CCA) and interphase fluores- cence in situ hybridization (iFISH) analyses using standard procedures. Spectral karyotyping was performed on a selected patient who showed complex karyotype (CK) pattern on CCA. Results: Clonal abnormalities were identified in 56.3% of analysis by karyotyping and 68.8% by combination of karyotyping and iFISH. CCA showed normal diploid, hypodiploid and hyperdiploid karyotypes, whereas iFISH analysis could detect various IGH translocations involving 14q32 region, del(13q14) and del(17p13). Significant associations were observed between patients with complex karyotypes and abnormal karyotypes. Patients who had a CK or showed an abnormal CCA and iFISH results were associated with worse survival (p=0.011 and p=0.034 respectively). Structural abnormalities were found to be more common among hyperdiploid MM patients (p=0.001). Cytogenetic evolution was seen in the follow-up of BM cytogenetics. Conclusion: Karyotyping and iFISH are valuable assets in detecting prognostically relevant genomic abnormalities. The presence of cytogenetic evolution demonstrated the value of cytogenetics in monitoring treatment response and in management of MM.
Objectives: Chromosomal abnormalities especially aneuploidies are the most common etiology for pregnancy loss. Trisomy 13, trisomy 18 and trisomy 21 are the most common chromosome autosomal aneuploidies with trisomy 21 (Down syndrome) being the most common chromosomal abnormality among liveborn infants. In previous reports, we noted that the recurrence of these aneuploidies in some families may not occur by chance alone.
Methods: Extraction of relevant data from review of medical case notes of a young couple with two offspring with Down syndrome (DS) and Patau syndrome.
Results: A family history of DS is a predisposing factor for both DS and other types of aneuploidy. Certain instances of non-disjunction error are not random.
Conclusion: As the maternal age was not advanced in both pregnancies, there is a possibility that the recurrent aneuploidy in this family may not be accounted by chance alone. The risk of having subsequent affected pregnancy cannot be ignored in this family and prenatal diagnosis is strongly recommended in the subsequent pregnancy.