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Journal Der Deutschen Dermatologischen... Jun 2024Malignant sweat gland tumors are rare, with the most common being eccrine porocarcinoma (EP). Approximately 18% of benign eccrine poroma (EPO) transit to EP. Previous...
BACKGROUND AND OBJECTIVES
Malignant sweat gland tumors are rare, with the most common being eccrine porocarcinoma (EP). Approximately 18% of benign eccrine poroma (EPO) transit to EP. Previous research has provided first insights into the mutational landscape of EP. However, only few studies have performed gene expression analyses. This leaves a gap in the understanding of EP biology and potential drivers of malignant transformation from EPO to EP.
METHODS
Transcriptome profiling of 23 samples of primary EP and normal skin (NS). Findings from the EP samples were then tested in 17 samples of EPO.
RESULTS
Transcriptome profiling revealed diversity in gene expression and indicated biologically heterogeneous sub-entities as well as widespread gene downregulation in EP. Downregulated genes included CD74, NDGR1, SRRM2, CDC42, ANXA2, KFL9 and NOP53. Expression levels of CD74, NDGR1, SRRM2, ANXA2, and NOP53 showed a stepwise-reduction in expression from NS via EPO to EP, thus supporting the hypothesis that EPO represents a transitional state in EP development.
CONCLUSIONS
We demonstrated that EP is molecularly complex and that evolutionary trajectories correspond to tumor initiation and progression. Our results provide further evidence implicating the p53 axis and the EGFR pathway. Larger samples are warranted to confirm our findings.
PubMed: 38899945
DOI: 10.1111/ddg.15445 -
Italian Journal of Dermatology and... Jun 2024
PubMed: 38884535
DOI: 10.23736/S2784-8671.24.07883-6 -
Human Pathology Jun 2024Sweat gland neoplasms represent a challenging area of dermatopathology, as they are relatively uncommon and often histopathologically complex. Recent studies have...
Ancillary immunohistochemical and molecular testing in the classification of cutaneous sweat gland/duct neoplasms: A validation study with emphasis on histomorphologic correlation and pathological diagnosis.
Sweat gland neoplasms represent a challenging area of dermatopathology, as they are relatively uncommon and often histopathologically complex. Recent studies have uncovered distinct immunohistochemical and molecular profiles in several sweat gland neoplasms, including digital papillary adenocarcinoma (DPA), papillary eccrine adenoma/tubular apocrine adenoma (PEA/TAA), poroid family tumors (PFT)/porocarcinoma, and clear cell hidradenoma (CCH)/clear cell hidradenocarcinoma (CCHCa). To further evaluate the diagnostic utility of ancillary studies in various sweat gland neoplasms, we performed an independent validation study in a cohort of patients with acral and non-acral tumors (9 DPA, 8 PEA/TAA, 13 PFT, 5 porocarcinoma, 23 CCH, 7 CCHCa, 6 sweat gland carcinoma not otherwise specified). p63 immunohistochemistry (IHC) demonstrated a myoepithelial pattern in 8/8 DPA and 4 of 4 tested PEA/TAA cases, and showed a ductal pattern in all tested PFT/porocarcinoma and CCH/CCHCa cases (42/42). All PEA/TAA (8/8) cases were positive for BRAF V600E IHC. 5 of 12 tested PFT and 5/5 porocarcinoma cases showed either positive staining with NUT IHC or harbored YAP1::NUTM1 fusion gene by RNA sequencing. MAML2 fluorescence in situ hybridization (FISH) was positive in all CCH and CCHCa cases (23/23 and 7/7, respectively). Our results further support the usefulness of appropriate ancillary studies in precise classification of sweat gland tumors, which may be routinely applied in diagnostic pathology practice when morphologic evaluation is in doubt.
PubMed: 38876201
DOI: 10.1016/j.humpath.2024.06.006 -
Indian Journal of Dermatology 2024
PubMed: 38841218
DOI: 10.4103/ijd.ijd_1031_23 -
Dermatology Practical & Conceptual Apr 2024
PubMed: 38810035
DOI: 10.5826/dpc.1402a131 -
Histopathology May 2024Porocarcinoma 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...
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.
PubMed: 38785043
DOI: 10.1111/his.15214 -
Cureus May 2024Eccrine poroma is a rare benign adnexal tumor arising from intradermal cells of eccrine sweat ducts. At least two-thirds of eccrine poromas present on the extremities,...
Eccrine poroma is a rare benign adnexal tumor arising from intradermal cells of eccrine sweat ducts. At least two-thirds of eccrine poromas present on the extremities, most commonly on the palms and soles. They are scarcely found on the face; to date, only 11 cases of eyelid poromas have been reported in PubMed. Biopsy excision with a free margin is necessary to distinguish it from malignant lesions and avoid recurrence with possible transformation to porocarcinoma. We present the case of a 23-year-old male with a histopathological confirmation of poroma using staining with hematoxylin-eosin on the eyelid, previously clinically diagnosed with molluscum contagiosum. After four years, he has not experienced a recurrence.
PubMed: 38751403
DOI: 10.7759/cureus.60316 -
Cancers Mar 2024Eccrine porocarcinoma, sharing many features with other skin tumours, is diagnostically challenging. A conventional biopsy might be misleading and surgical excision... (Review)
Review
Eccrine porocarcinoma, sharing many features with other skin tumours, is diagnostically challenging. A conventional biopsy might be misleading and surgical excision becomes a primary diagnostic tool and a treatment method. However, the data on surgical safety margins are not consistent. We present a systematic review analysing the surgical margins of porocarcinoma in the head and neck area, which was conducted across the PubMed, Cochrane, and Web of Science databases including studies published from inception to November of 2023. In this systematic review, the PRISMA-ScR checklist was used, and a Cohen's Kappa coefficient of 0.92 was applied, indicating very good agreement between reviewers. Out of 529 identified articles, 18 studies yielding 20 cases in total were selected for a thorough analysis. Nine (45%) cases were observed in the facial regions, eight (40%) on the scalp, and three (5%) on the neck. The primary treatment of choice was wide local excision with safety margins ranging from 3 to 22 mm (mean: 10.1). It demonstrated that surgical margins do not differ by age or anatomic regions, with the main point of reference being the tumour size. As observed, the bigger the tumour, the wider the safety margins were. However, the limited disclosure of surgical safety margins in analysed case reports impeded our ability to define the minimum safety margins. Further investigation and a consensus on recommended safety margins are required.
PubMed: 38610942
DOI: 10.3390/cancers16071264 -
Virchows Archiv : An International... Mar 2024Most tumors are caused by inherited or acquired genetic changes. However, a subset of tumors is driven by viral infection including Kaposi sarcoma, nasopharyngeal...
Most tumors are caused by inherited or acquired genetic changes. However, a subset of tumors is driven by viral infection including Kaposi sarcoma, nasopharyngeal carcinoma, and others. Human papillomavirus (HPV) is an especially common cause of epithelial cancers and hyperplasias. Epidermodysplasia verruciformis (EDV) is a rare type of HPV infection with characteristic histopathologic features and a unique spectrum of HPV subtypes. We report here a distinctive form of EDV-associated eccrine neoplasia. Seven tumors from two patients were analyzed and show highly uniform features including multiple clustered clinical lesions, multifocal epidermal origin, eccrine differentiation with close association with the acrosyringium, an anastomosing growth pattern, and a bland monotonous poroid-to-basaloid cytomorphology. Clinical follow-up for one patient has been benign to date. These tumors show strong similarity to two previously reported cases, suggesting that this type of EDV-associated eccrine neoplasia may represent a rare but reproducible form of skin adnexal tumor with distinctive clinicopathologic features.
Topics: Humans; Epidermodysplasia Verruciformis; Papillomavirus Infections; Sweat Gland Neoplasms; Skin Neoplasms; Sarcoma, Kaposi; Papillomaviridae
PubMed: 38483613
DOI: 10.1007/s00428-024-03785-w -
Indian Journal of Dermatology 2023
PubMed: 38371545
DOI: 10.4103/ijd.ijd_585_22