التفاصيل البيبلوغرافية
| العنوان: |
Porocarcinomas with PAK1/2/3 fusions: a series of 12 cases |
| المؤلفون: |
Kervarrec, Thibault, Westphal, Danna, Pissaloux, Daniel, Legrand, Mélanie, Tirode, Franck, Neuhart, Anne, Drouot, Francoise, Becker, Jürgen C, Macagno, Nicolas, Seris, Alice, Jouary, Thomas, Beltzung, Fanny, Jullie, Marie‐Laure, Harms, Paul W, Cribier, Bernard, Mourah, Samia, Jouenne, Fanélie, Fromont, Gaelle, Louveau, Baptiste, Mancini, Maxence, Kazakov, Dmitry V, de la Fouchardière, Arnaud, Battistella, Maxime |
| المساهمون: |
Société Française de Dermatologie et de Pathologie Sexuellement Transmissible |
| المصدر: |
Histopathology ; ISSN 0309-0167 1365-2559 |
| بيانات النشر: |
Wiley |
| سنة النشر: |
2024 |
| المجموعة: |
Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: |
Aims Porocarcinoma is a malignant sweat gland tumour differentiated toward the upper part of the sweat duct and may arise from the transformation of a preexisting benign poroma. In 2019, Sekine et al. demonstrated the presence of YAP1::MAML2 and YAP1::NUTM1 fusions in most poromas and porocarcinomas. Recently, our group identified PAK2‐ fusions in a subset of benign poromas. Herein we report a series of 12 porocarcinoma cases harbouring PAK1/2/3 fusions. Methods and Results Five patients were male and the median age was 79 years (ranges: 59–95). Tumours were located on the trunk ( n = 7), on the thigh ( n = 3), neck ( n = 1), or groin area ( n = 1). Four patients developed distant metastases. Microscopically, seven cases harboured a benign poroma component and a malignant invasive part. Ductal formations were observed in all, while infundibular/horn cysts and cells with vacuolated cytoplasm were detected in seven and six tumours, respectively. In three cases, the invasive component consisted of a proliferation of elongated cells, some of which formed pseudovascular spaces, whereas the others harboured a predominant solid or trabecular growth pattern. Immunohistochemical staining for CEA and EMA confirmed the presence of ducts. Focal androgen receptor expression was detected in three specimens. Whole RNA sequencing evidenced LAMTOR1::PAK1 ( n = 2), ZDHHC5::PAK1 ( n = 2), DLG1::PAK2 , CTDSP1::PAK1 , CTNND1::PAK1 , SSR1::PAK3 , CTNNA1::PAK2 , RNF13::PAK2 , ROBO1::PAK2, and CD47::PAK2 . Activating mutation of HRAS (G13V, n = 3, G13R, n = 1, Q61L, n = 2) was present in six cases. Conclusion Our study suggests that PAK1/2/3 fusions is the oncogenic driver of a subset of porocarcinomas lacking YAP1 rearrangement. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1111/his.15214 |
| الإتاحة: |
https://doi.org/10.1111/his.15214Test |
| حقوق: |
http://creativecommons.org/licenses/by-nc-nd/4.0Test/ |
| رقم الانضمام: |
edsbas.EF1D33EE |
| قاعدة البيانات: |
BASE |
