A Distinctive Adnexal (Usually Paratubal) Neoplasm Often Associated with Peutz-Jeghers Syndrome and Characterized by STK11 Alterations (STK11 Adnexal Tumor) : A Report of 22 Cases

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Fältnamn	Indikatorer	Metadata
000		05126naa a2200577 4500
001		oai:lup.lub.lu.se:dad871a0-51c6-451d-8d46-bd0c17c282ba
003		SwePub
008		210330s2021 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://lup.lub.lu.se/record/dad871a0-51c6-451d-8d46-bd0c17c282ba2 URI
024	7	a https://doi.org/10.1097/PAS.00000000000016772 DOI
040		a (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Bennett, Jennifer A.u University of Chicago Medical Center4 aut
245	1 0	a A Distinctive Adnexal (Usually Paratubal) Neoplasm Often Associated with Peutz-Jeghers Syndrome and Characterized by STK11 Alterations (STK11 Adnexal Tumor) : A Report of 22 Cases
264	1	c 2021
520		a We describe 22 examples of a novel, usually paratubal, adnexal tumor associated with Peutz-Jeghers syndrome in nearly 50% of cases that harbored STK11 alterations in all tested (n=21). The patients ranged from 17 to 66 years (median=39 y) and the tumors from 4.5 to 25.5 cm (median=11 cm). Most (n=18) were paratubal, with metastases noted in 11/22 (50%) and recurrences in 12/15 (80%). Morphologically, they were characterized by interanastomosing cords and trabeculae of predominantly epithelioid cells, set in a variably prominent myxoid to focally edematous stroma, that often merged to form tubular, cystic, cribriform, and microacinar formations, reminiscent of salivary gland-type tumors. The tumor cells were uniformly atypical, often with prominent nucleoli and a variable mitotic index (median=9/10 HPFs). The tumors were usually positive to a variable extent for epithelial (CAM5.2, AE1/AE3, cytokeratin 7), sex cord (calretinin, inhibin, WT1), and mesothelial (calretinin, D2-40) markers, as well as hormone receptors. PAX8, SF1, and GATA-3 were rarely positive, while claudin-4, FOXL2, and TTF-1 were consistently negative. All sequenced tumors (n=21) harbored alterations in STK11, often with a loss of heterozygosity event. There were no other recurrently mutated genes. Recurrent copy number alterations included loss of 1p and 11q, and gain of 1q, 15q, and 15p. Despite an extensive morphologic, immunohistochemical, and molecular evaluation, we are unable to determine with certainty the histogenesis of this unique tumor. Wolffian, sex cord stromal, epithelial, and mesothelial origins were considered. We propose the term STK11 adnexal tumor to describe this novel entity and emphasize the importance of genetic counseling in these patients as a significant number of neoplasms occur in association with Peutz-Jeghers syndrome.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
653		a adnexal
653		a paratubal
653		a Peutz-Jeghers syndrome
653		a salivary gland-like
653		a sex cord-like
653		a STK11
700	1	a Young, Robert H.u Harvard University,Massachusetts General Hospital4 aut
700	1	a Howitt, Brooke E.u Stanford University4 aut
700	1	a Croce, Sabrinau Institut Bergoníe4 aut
700	1	a Wanjari, Pankhuriu University of Chicago Medical Center4 aut
700	1	a Zhen, Chaojieu University of Chicago Medical Center4 aut
700	1	a Da Cruz Paula, Arnaudu Memorial Sloan-Kettering Cancer Center4 aut
700	1	a Meserve, Emilyu Spectrum Healthcare Partners4 aut
700	1	a Schoolmeester, J. Kennethu Mayo Clinic Minnesota4 aut
700	1	a Westbom-Fremer, Sofiau Lund University,Lunds universitet,Bröst- och ovarialcancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Breast and Ovarian Cancer Genomics,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments4 aut0 (Swepub:lu)so4231we
700	1	a Benzi, Eduardou Baylor College of Medicine4 aut
700	1	a Patil, Ninad M.u Baylor College of Medicine4 aut
700	1	a Kooreman, Loesu Maastricht University Medical Centre4 aut
700	1	a El-Bahrawy, Monau Imperial College London4 aut
700	1	a Zannoni, Gian Francou Catholic University of the Sacred Heart, Rome4 aut
700	1	a Krausz, Thomasu University of Chicago Medical Center4 aut
700	1	a McCluggage, W. Glennu Belfast City Hospital4 aut
700	1	a Weigelt, Brittau Memorial Sloan-Kettering Cancer Center4 aut
700	1	a Ritterhouse, Lauren L.u Harvard University,Massachusetts General Hospital4 aut
700	1	a Oliva, Estheru Harvard University,Massachusetts General Hospital4 aut
710	2	a University of Chicago Medical Centerb Harvard University4 org
773	0	t American Journal of Surgical Pathologyg 45:8, s. 1061-1074q 45:8<1061-1074x 0147-5185
856	4	u http://dx.doi.org/10.1097/PAS.0000000000001677y FULLTEXT
856	4 8	u https://lup.lub.lu.se/record/dad871a0-51c6-451d-8d46-bd0c17c282ba
856	4 8	u https://doi.org/10.1097/PAS.0000000000001677

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