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1.
J Cutan Pathol ; 51(4): 280-283, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38114301

RESUMO

Pigmented mammary Paget disease is a rare variant of mammary Paget disease that is often clinically misdiagnosed as a melanocytic lesion of the skin or nipple-areolar complex. Careful morphological assessment, along with the performance of adequate immunohistochemical stains, will help in achieving the right diagnosis and avoiding misdiagnosis of the entity as malignant melanoma. We report a rare case of pigmented mammary Paget disease with concomitant colonization of the underlying invasive ductal carcinoma by melanocytes mimicking melanoma.


Assuntos
Neoplasias da Mama , Melanoma , Doença de Paget Mamária , Transtornos da Pigmentação , Humanos , Feminino , Doença de Paget Mamária/patologia , Diagnóstico Diferencial , Neoplasias da Mama/patologia , Melanócitos/patologia , Melanoma/diagnóstico , Melanoma/patologia , Transtornos da Pigmentação/patologia , Pigmentação
2.
Cancers (Basel) ; 14(5)2022 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-35267660

RESUMO

Next generation sequencing (NGS) has facilitated the identification of molecularly targeted therapies. However, clinical utility is an emerging challenge. Our objective was to identify the clinical utility of NGS testing in gynecologic cancers. A retrospective review of clinico-pathologic data was performed on 299 gynecological cancers where NGS testing had been performed to identify (1) recognition of actionable targets for therapy, (2) whether the therapy changed based on the findings, and (3) the impact on survival. High grade serous carcinoma was the most common tumor (52.5%). The number of genetic alterations ranged from 0 to 25 with a mean of 2.8/case. The most altered genes were TP53, PIK3CA, BRCA1 and BRCA2. Among 299 patients, 100 had actionable alterations (79 received a targeted treatment (Group1), 29 did not receive treatment (Group 2), and there were no actionable alterations in 199 (Group3). The death rate in groups 1, 2 and 3 was 54.4%, 42.8% and 50.2%, with an average survival of 18.6, 6.6 and 10.8 months, respectively (p = 0.002). In summary, NGS testing for gynecologic cancers detected 33.4% of actionable alterations with a high clinical action rate. Along with the high clinical utility of NGS, testing also seemed to improve survival for patients who received targeted treatment.

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