Publications by authors named "F Micci"
Article Synopsis
- Multiple myeloma (MM) is a type of cancer that starts in plasma cells and is divided into two main genetic subtypes: hyperdiploid and non-hyperdiploid.
- This study used human myeloma cell lines (HMCLs) to investigate protein expression of cell surface markers relevant to MM treatment, finding that some markers were consistently expressed while others showed variation.
- Analysis revealed that some HMCLs closely matched the characteristics of patient-derived samples, highlighting the need for careful selection of cell lines to best model MM for research and therapeutic purposes.
Article Synopsis
- The study focuses on rare genetic abnormalities known as isodicentric (idic(X)(q13)) and isochromosome (i(X)(q10)), primarily found in cases of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).
- Using advanced genetic testing methods like array comparative genome hybridization (aCGH) and next-generation sequencing (NGS), the researchers analyzed bone marrow samples from six patients to identify specific genetic alterations linked to these abnormalities.
- The findings revealed that the breakpoints for idic(X)(q13) were tightly grouped in a specific region, while i(X)(q10) was identified as a previously unreported variant, associated with certain pathogenic variants that
Introduction: Alterations of the gene (9q34) are recurrent in acute leukemias. Rearrangements of chromosomal band 9q34 targeting this locus can be karyotypically distinct, for example t(6;9)(p22;q34)/, or cryptic, in which case no visible change of 9q34 is seen by chromosome banding.
Methods: We examined 9 cases of acute leukemia with rearrangement by array Comparative Genomic Hybridization (aCGH), reverse-transcription polymerase chain reaction (RT-PCR), and cycle sequencing/Sanger sequencing to detect which fusion genes had been generated.
Article Synopsis
- Intramuscular myxomas are benign tumors that are hard to diagnose, with genetic factors, particularly mutations in the GNAS gene, playing a role in their development.* -
- In a study of 22 tumors, researchers identified chromosomal abnormalities in 11 cases and found pathogenic variants in 86% of the tumors, revealing a correlation between these genetic changes and the tumors' characteristics.* -
- The study highlights that common mutation detection methods may miss rare variants, and suggests that direct cycle Sanger sequencing is an effective and cost-efficient alternative to more advanced techniques for identifying genetic changes in these tumors.*
Background/aim: Mixed phenotype acute leukemia (MPAL) is a rare hematologic malignancy in which the leukemic cells cannot be assigned to any specific lineage. The lack of well-defined, pathogenetically relevant diagnostic criteria makes the clinical handling of MPAL patients challenging. We herein report the genetic findings in bone marrow cells from two pediatric MPAL patients.
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