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Utilizing PTEN immunohistochemistry as a screening test for Cowden syndrome.
Hartsough, Emily; DeSimone, Mia S; Lorenzo, Mayra E; Dias-Santagata, Dora; Nose, Vania; Hoang, Mai P.
Afiliación
  • Hartsough E; Department of Pathology, Massachusetts General Hospital, Boston, MA, US.
  • DeSimone MS; Department of Pathology, Brigham and Women's Hospital, Boston, MA, US.
  • Lorenzo ME; Department of Pathology, Harvard Medical School, Boston, MA, US.
  • Dias-Santagata D; Department of Pathology, Harvard Medical School, Boston, MA, US.
  • Nose V; Department of Dermatology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, US.
  • Hoang MP; Department of Pathology, Massachusetts General Hospital, Boston, MA, US.
Am J Clin Pathol ; 161(5): 490-500, 2024 May 02.
Article en En | MEDLINE | ID: mdl-38206110
ABSTRACT

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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Hamartoma Múltiple / Inmunohistoquímica / Fosfohidrolasa PTEN Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Clin Pathol Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Hamartoma Múltiple / Inmunohistoquímica / Fosfohidrolasa PTEN Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Clin Pathol Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido