Background: Proliferative lesions of the bone surface, such as subungual (Dupuytren) exostosis and bizarre parosteal osteochondromatous proliferation (BPOP, Nora lesion) are currently classified as reactive, proliferative processes that mimic primary neoplasms of bone.
Methods: Cytogenetic analysis was performed on 3 subungual exostoses of the great toe and 2 BPOP lesions of the radius and ulna.
Results: A balanced translocation t(X;6) was identified in all cases of subungual exostoses. The chromosomal rearrangements observed in 1 case of BPOP differed from those seen in subungual exostosis.
Conclusions: The presence of chromosomal abnormalities in subungual exostosis and BPOP suggests that these lesions are neoplastic, with a different molecular pathogenesis, and that each is a distinct clinicopathologic entity.
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http://dx.doi.org/10.1097/01.pas.0000126642.61690.d6 | DOI Listing |
J Hematop
January 2025
Mayo Clinic, Rochester, MN, USA.
Testicular follicular lymphoma (TFL) is an exceedingly rare lymphoma that typically occurs in young male patients and is now recognized as a distinct diagnostic entity in the International Consensus Classification. TFL shows some clinicopathologic and genetic overlap with pediatric-type follicular lymphoma (PTFL). We report a case of TFL occurring in an otherwise healthy 4-year-old boy who presented with painless scrotal swelling.
View Article and Find Full Text PDFGenes (Basel)
January 2025
Section of Cytogenetics, Oncology Department, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy.
22q11.2 is a region prone to chromosomal rearrangements due to the presence of eight large blocks of low-copy repeats (LCR22s). The 3 Mb 22q11.
View Article and Find Full Text PDFGenes (Basel)
January 2025
Department of Zoology, Faculty of Biology and Biotechnology, University of Warmia and Mazury in Olsztyn, 10-719 Olsztyn, Poland.
Interspecific hybridization between relative species (with a diploid genome designated as TT), (EE) and (NN) and the successive polyploidization with transitions from sexuality to asexuality experienced by triploid hybrids likely influence their chromosomal rearrangements, including rearrangements of ribosomal DNA (rDNA) distribution patterns. Previously, we documented distinct karyotypic differences: exhibited bi-armed chromosomes while showed uni-armed chromosomes with rDNA-positive hybridization signals, respectively. In this study, fluorescence in situ hybridization (FISH) with rDNA and rDNA probes was used to analyze and compare chromosomal distribution patterns of rDNAs in clonally reproduced triploid hybrids of different genomic constitutions ETT, ETN, EEN and EET (referred to using acronyms denoting the haploid genomes of their parent species), and their parental species.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA.
Background: Acute promyelocytic leukemia (APL) is characterized by abnormal promyelocytes and t(15;17)(q24;q21) . Rarely, patients may have cryptic or variant rearrangements. All-trans retinoic acid (ATRA)/arsenic trioxide (ATO) is largely curative provided that the diagnosis is established early.
View Article and Find Full Text PDFBiomolecules
January 2025
Department of Dermatology, Wellman Center for Photomedicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Acral melanoma is a distinct subtype of cutaneous malignant melanoma that uniquely occurs on ultraviolet (UV)-shielded, glabrous skin of the palms, soles, and nail beds. While acral melanoma only accounts for 2-3% of all melanomas, it represents the most common subtype among darker-skinned, non-Caucasian individuals. Unlike other cutaneous melanomas, acral melanoma does not arise from UV radiation exposure and is accordingly associated with a relatively low tumor mutational burden.
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