A t(2;19)(p13;p13.2) in a giant invasive cardiac lipoma from a patient with multiple lipomatosis

Vaughan, Carl J.; Weremowicz, Stanislawa; Goldstein, Martin; Casey, Mairead; Hart, Matthew J.; Hahn, Rebecca T.; Devereux, Richard B.; Girardi, Leonard N.; Schoen, Frederick J.; Fletcher, Jonathan A.; Morton, Cynthia C.; Basson, Craig T.

doi:10.1002/(sici)1098-2264(200006)28:2<133::aid-gcc1>3.0.co;2-k

Cited by 23 publications

(11 citation statements)

References 27 publications

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“…One may observe a few entrapped myocytes in lipomas, principally from the periphery of the lesion or at the resection margins [1,2]. Distinction between LHIS and lipoma from a clinical standpoint is generally academic because neither generally causes symptoms and recurrence after resection is uncommon, with a very low incidence of malignant transformation, if either does [17][18][19].…”

Section: Lipomasmentioning

confidence: 99%

Fatty lesions of the atria and interatrial septum

et al. 2006

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Section: Lipomasmentioning

confidence: 99%

Fatty lesions of the atria and interatrial septum

et al. 2006

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“…Polymorphic short tandem repeats (STRs) were amplified by PCR with published nucleotide primer sequences (10), analyzed on denaturing polyacrylamide gels (8), and visualized by autoradiography or on an ABI 377 sequencer (Perkin-Elmer Inc., Norwalk, Connecticut, USA). Cytogenetic analysis of tumor and lymphocyte samples was performed as previously described (11).…”

Section: Publicationmentioning

confidence: 99%

Mutations in the protein kinase A R1α regulatory subunit cause familial cardiac myxomas and Carney complex

Casey¹,

Vaughan²,

He³

et al. 2000

J. Clin. Invest.

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252

144

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Cardiac myxomas are benign mesenchymal tumors that can present as components of the human autosomal dominant disorder Carney complex. Syndromic cardiac myxomas are associated with spotty pigmentation of the skin and endocrinopathy. Our linkage analysis mapped a Carney complex gene defect to chromosome 17q24. We now demonstrate that the PRKAR1α gene encoding the R1α regulatory subunit of cAMP-dependent protein kinase A (PKA) maps to this chromosome 17q24 locus. Furthermore, we show that PRKAR1α frameshift mutations in three unrelated families result in haploinsufficiency of R1α and cause Carney complex. We did not detect any truncated R1α protein encoded by mutant PRKAR1α. Although cardiac tumorigenesis may require a second somatic mutation, DNA and protein analyses of an atrial myxoma resected from a Carney complex patient with a PRKAR1α deletion revealed that the myxoma cells retain both the wild-type and the mutant PRKAR1α alleles and that wildtype R1α protein is stably expressed. However, in this atrial myxoma, we did observe a reversal of the ratio of R1α to R2β regulatory subunit protein, which may contribute to tumorigenesis. Further investigation will elucidate the cellspecific effects of PRKAR1α haploinsufficiency on PKA activity and the role of PKA in cardiac growth and differentiation.

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“…13) In addition, HMGA2 was discovered to be involved in the development and progression of many cardiovascular diseases, such as atherosclerosis, intravenous leiomyomatosis, and cardiac lipomas. [14][15][16] Moreover, Belge et al found that HMGA2 was over-expressed in acute aortic dissection and associated with endothelial-mesenchymal transition. 17) However, the biological function of HMGA2 in TAAD pathogenesis and whether it was regulated by miR-26b has not been fully elucidated.…”

Section: Introductionmentioning

confidence: 99%

MiR-26b Suppresses the Development of Stanford Type A Aortic Dissection by Regulating HMGA2 and TGF-β/Smad3 Signaling Pathway

Yang

Wu²,

Liu

et al. 2020

ATCS

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Purpose: Stanford type A aortic dissection (TAAD) is one of the most dangerous cardiovascular diseases. MicroRNAs (miRNAs) have been considered as potential therapeutic targets for TAAD. In this present study, we aimed to investigate the functional role and regulatory mechanism of miR-26b in TAAD development. Materials and Methods: MiR-26b mRNA expression was detected by real-time polymerase chain reaction (RT-PCR) and protein levels were measured by Western blot. Verifying the direct target of miR-26b was used by dual luciferase assay, RT-PCR, and Western blot. Cell Counting Kit-8 (CCK-8) and TUNEL staining assays were applied for detecting rat aortic vascular smooth muscle cells (VSMCs) viability and apoptosis, respectively. Results: We found that miR-26b was under-expressed in TAAD patients and closely associated with the poor prognosis of TAAD patients. Re-expression of miR-26b facilitated while knockdown of miR-26b inhibited VSMC proliferation. However, miR-26b showed the opposite effect on cell apoptosis. More importantly, high-mobility group AT-hook 2 (HMGA2) was verified as the direct target of miR-26b. Furthermore, transforming growth factor beta (TGF-β)/Smad3 signaling pathway was involved in the development of TAAD modulated by miR-26b. Conclusion: miR-26b impeded TAAD development by regulating HMGA2 and TGF-β/ Smad3 signaling pathway, which provided a potential biomarker for TAAD treatment.

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A t(2;19)(p13;p13.2) in a giant invasive cardiac lipoma from a patient with multiple lipomatosis

Cited by 23 publications

References 27 publications

Fatty lesions of the atria and interatrial septum

Fatty lesions of the atria and interatrial septum

Mutations in the protein kinase A R1α regulatory subunit cause familial cardiac myxomas and Carney complex

MiR-26b Suppresses the Development of Stanford Type A Aortic Dissection by Regulating HMGA2 and TGF-β/Smad3 Signaling Pathway

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