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MDM2 amplification in rod-shaped chromosomes provides clues to early stages of circularized gene amplification in liposarcoma.
Commun Biol
May 2024
Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, 221 84, Lund, Sweden.
Well-differentiated liposarcoma (WDLS) displays amplification of genes on chromosome 12 (Chr12) in supernumerary ring or giant marker chromosomes. These structures have been suggested to develop through chromothripsis, followed by circularization and breakage-fusion-bridge (BFB) cycles. To test this hypothesis, we compared WDLSs with Chr12 amplification in rod-shaped chromosomes with WDLSs with rings.
View Article and Find Full Text PDFThe cilium like region of the Drosophila bifurca spermatocyte: Elongation of a giant axoneme without intraflagellar transport.
Cytoskeleton (Hoboken)
November 2024
Department of Life Sciences, University of Siena, Siena, Italy.
The growth of the ciliary axonemes mainly depends on the evolutionary conserved intraflagellar transport (IFT) machinery. However, insect spermatocytes are characterized by cilium-like regions (CLRs) that elongate in the absence of IFT. It is generally believed that the dynamics of these structures relies on the free diffusion of soluble tubulin from the cytoplasm.
View Article and Find Full Text PDFA giant scrotal pendulous fibroma mimicking a supernumerary testis.
Asian J Androl
March 2024
Urology Division, Civitanova Marche Hospital, Civitanova Marche 62012, Italy.
Biology and Management of Deep-seated Atypical Lipomatous Tumor of the Extremities.
Anticancer Res
October 2023
Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
Adipocytic neoplasms are frequently encountered in clinical practice. Atypical lipomatous tumor (ALT) is a locally aggressive but non-metastasizing adipocytic neoplasm that primarily occurs in the proximal extremities of middle-aged to older adults. Histologically, ALT is divided into adipocytic (lipoma-like), sclerosing and inflammatory subtypes.
View Article and Find Full Text PDFType II Pfieffer misdiagnosed as Crouzon syndrome with additional features of supernumerary teeth and localized symmetrical gigantism: a case report.
J Med Case Rep
November 2022
Neonatal Unit, Muhimbili National Hospital, P.O. Box 65001, Dar-es-Salaam, Tanzania.
Background: Pfieffer syndrome is among the syndromes seen in the recognized variant of the FGFR2 gene. There are several conditions related to this variant and a very closely related condition is Crouzon syndrome. This case is important to report because the neonate was a delayed referral from another region, without clear counseling and information on the gravity of situation.
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