دورية أكاديمية
Utilizing PTEN immunohistochemistry as a screening test for Cowden syndrome.
| العنوان: | Utilizing PTEN immunohistochemistry as a screening test for Cowden syndrome. |
|---|---|
| المؤلفون: | Hartsough E; Department of Pathology, Massachusetts General Hospital, Boston, MA, US., DeSimone MS; Department of Pathology, Brigham and Women's Hospital, Boston, MA, US.; Department of Pathology, Harvard Medical School, Boston, MA, US., Lorenzo ME; Department of Pathology, Harvard Medical School, Boston, MA, US.; Department of Dermatology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, US., Dias-Santagata D; Department of Pathology, Massachusetts General Hospital, Boston, MA, US.; Department of Pathology, Harvard Medical School, Boston, MA, US., Nose V; Department of Pathology, Massachusetts General Hospital, Boston, MA, US.; Department of Pathology, Harvard Medical School, Boston, MA, US., Hoang MP; Department of Pathology, Massachusetts General Hospital, Boston, MA, US.; Department of Pathology, Harvard Medical School, Boston, MA, US. |
| المصدر: | American journal of clinical pathology [Am J Clin Pathol] 2024 May 02; Vol. 161 (5), pp. 490-500. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0370470 Publication Model: Print Cited Medium: Internet ISSN: 1943-7722 (Electronic) Linking ISSN: 00029173 NLM ISO Abbreviation: Am J Clin Pathol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2016- : Oxford : Oxford University Press Original Publication: Philadelphia [etc.] Lippincott [etc.] |
| مواضيع طبية MeSH: | Hamartoma Syndrome, Multiple*/diagnosis , Hamartoma Syndrome, Multiple*/pathology , Hamartoma Syndrome, Multiple*/genetics , PTEN Phosphohydrolase*/metabolism , PTEN Phosphohydrolase*/genetics , Immunohistochemistry*, Humans ; Female ; Middle Aged ; Adult ; Retrospective Studies ; Male ; Aged ; Biomarkers, Tumor/metabolism ; Biomarkers, Tumor/analysis ; Skin Neoplasms/diagnosis ; Skin Neoplasms/pathology ; Skin Neoplasms/metabolism ; Thyroid Neoplasms/diagnosis ; Thyroid Neoplasms/pathology ; Thyroid Neoplasms/metabolism ; Thyroid Neoplasms/genetics ; Breast Neoplasms/diagnosis ; Breast Neoplasms/pathology ; Breast Neoplasms/metabolism ; Breast Neoplasms/genetics |
| مستخلص: | Objectives: Cowden syndrome (CS) is a multisystem disease with an elevated lifetime risk of internal malignancy. We aim to assess the role of PTEN immunostain as a screening test for CS in a variety of common CS-associated neoplasms, with a particular focus on cutaneous tumors. Methods: We retrospectively searched for patients meeting criteria for CS and/or demonstrating germline PTEN mutation from 2008 to 2022. We then performed PTEN immunostains on tumors of these patients as well as control cases. Results: Our study included 30 patients with CS who had a total of 25 CS-associated malignancies (13 thyroid, 8 breast, and 4 endometrial carcinomas). Specifically, there were 11 patients with biopsy-confirmed CS-associated cutaneous neoplasms, including 1 patient with multiple trichilemmomas and 3 with multiple sclerotic fibromas. In total, 45 CS-associated tumors (6 trichilemmomas, 7 sclerotic fibromas, 5 thyroid carcinomas, 18 adenomatous thyroid nodules, 6 breast carcinomas, and 3 endometrial carcinomas) and 31 non-CS cases (9 trichilemmomas, 5 sclerotic fibromas, 8 adenomatous thyroid nodules, and 3 thyroid, 3 breast, and 3 endometrial carcinomas) were available for PTEN immunohistochemical staining. PTEN expression was lost in 43 (96%) of 45 CS-associated lesions and retained in 30 (97%) of 31 sporadic tumors. The overall sensitivity and specificity of PTEN loss of expression as a screening test for CS were 96% and 97%, respectively. Conclusions: PTEN immunohistochemistry on CS-associated tumors, especially trichilemmomas, can serve as a readily accessible and cost-effective screening test for CS. (© The Author(s) 2024. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.) |
| فهرسة مساهمة: | Keywords: Cowden syndrome; PTEN; breast; endometrium; immunohistochemistry; sclerotic fibroma; thyroid; trichilemmoma |
| المشرفين على المادة: | EC 3.1.3.67 (PTEN Phosphohydrolase) EC 3.1.3.67 (PTEN protein, human) 0 (Biomarkers, Tumor) |
| تواريخ الأحداث: | Date Created: 20240111 Date Completed: 20240502 Latest Revision: 20240506 |
| رمز التحديث: | 20240506 |
| DOI: | 10.1093/ajcp/aqad177 |
| PMID: | 38206110 |
| قاعدة البيانات: | MEDLINE |
كن أول من يترك تعليقا!