Porocarcinoma Research Articles

Exploring the driver events of eccrine poromas and porocarcinomas: A retrospective, cross-institutional study of 54 cases.

We have comprehensively characterised the mutational landscape of eccrine poroma (EP) and eccine porocarcinoma (EPC), uncovering novel events and delineating different pathways of tumorigenesis underlying these tumours. EPs are driven largely by oncogenic fusion genes, whereas EPCs are driven largely by somatic mutations affecting various pathways, with a subset driven by fusion genes as the first oncogenic driver, and somatic mutations representing secondary events contributing to progression of the tumour. Fusion genes in EP predominantly involve YAP1 whereas those in EPC preferentially involve PAK gene family members.

A woman with mycosis fungoides, vitiligo, and a new hand nodule.

A 70-year-old African American female with a history of stage IV mycosis fungoides in remission presented with a gradually enlarging, red, ulcerated nodule on her right dorsal hand. The lesion was biopsied, and it showed intraepidermal proliferation with cytologic atypia and increased vasculature in the papillary dermis. Immunohistochemical staining indicated a yes-associated protein 1 (YAP1) rearrangement, confirmed by RNA sequencing, revealing a YAP1::MAML2 (mastermind-like transcriptional coactivator 2) fusion. The lesion was diagnosed as an eccrine porocarcinoma (EPC). The occurrence of EPCs following radiotherapy or trauma has been documented. This case highlights the importance of considering EPCs in patients with extensive skin treatments and immunosuppression history.

Diagnosis and Management of Malignant Epithelial Nail Unit Tumors.

Background: Malignant epithelial nail unit tumors pose significant diagnostic and therapeutic challenges due to their clinical presentation often mimicking benign conditions and due to the need to preserve as much nail unit function as possible during surgery. Early detection is crucial, even if none of these tumors represent a life-threatening disease. Objectives: This review focus on squamous cell carcinoma, verrucous carcinoma, eccrine porocarcinoma, onychocytic carcinoma, basal cell carcinoma, malignant onychopapilloma, malignant onycholemmal cyst and onycholemmal carcinoma. Methods: Existing literature on the aforementioned tumors has been revised and synthesized. Results: Clinical presentation, pathology, diagnostic procedures, risk factors and the challenges associated with surgical management have been described in detail. Conclusions: Malignant epithelial tumors of the nail unit require careful evaluation and management due to their complex presentation. Early detection and an informed surgical approach are essential to improve patient outcomes and minimize complications.

Hemorrhagic polypoid lesion on the leg - eccrine porocarcinoma: A case report

Hemorrhagic polypoid lesion on the leg - eccrine porocarcinoma: A case report

Gene expression profiling in porocarcinoma indicates heterogeneous tumor development and substantiates poromas as precursor lesions.

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. 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. 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. 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.

Ulcerated nodules with zosteriform distribution on the upper extremity.

Eccrine porocarcinoma (EPC) is a rare skin adnexal malignancy with a high potential for metastases. The most common metastatic sites are the lymph nodes and lungs. CCutaneous metastasis is extremely rare, particularly the zosteriform variant, with fewer than 5 cases reported in the literature. Here, we report a unique case of EPC in a 71-year-old male, clinically presenting with multiple clusters of ulcerated nodules distributing as a zosteriform pattern throughout his upper left limb, along with draining lymphatic metastases and lymphedema.

Porocarcinoma: Clinical and Histological Features, Immunohistochemistry and Outcomes: A Systematic Review.

Porocarcinoma (PC) is a rare adnexal tumor, mainly found in the elderly. The tumor arises from the acrosyringium of eccrine sweat glands. The risk of lymph node and distant metastasis is high. Differential diagnosis with squamous cell carcinoma is difficult, although NUT expression and YAP1 fusion products can be very useful for diagnosis. Currently, wide local excision is the main surgical treatment, although Mohs micrographic surgery is promising. To date, there is no consensus regarding the role of sentinel lymph node biopsy and consequential lymph node dissection. No guidelines exist for radiotherapy, which is mostly performed based on tumor characteristics and excision margins. Only a few studies report systemic treatment for advanced PC, although therapy with pembrolizumab and EGFR inhibitors show promise. In this review, we discuss epidemiology, clinical features, histopathological features, immunohistochemistry and fusion products, surgical management and survival outcomes according to stage, surgical management, radiotherapy and systemic therapy.

Eccrine porocarcinoma of the face, an aggressive and unusual cutaneous tumor

El porocarcinoma ecrino (PE) es un cáncer de las glándulas sudoríparas de la piel, con una presentación clínica diversa que incluye placas, nódulos ulcerados y lesiones polipoides. Los síntomas pueden involucrar picazón, dolor e inflamación, y signos de degeneración maligna como úlceras, sangrado, crecimiento rápido o dolor. La histopatología muestra la proliferación de células atípicas con rasgos malignos, incluyendo pleomorfismo e hipercromasia nuclear. Puede metastatizar a órganos distantes, siendo el hueso, vejiga, retroperitoneo y otros sitios comunes. La supervivencia depende del tamaño del tumor, con peores pronósticos para tumores mayores de 4 cm. El tratamiento principal es la extirpación quirúrgica, especialmente en estadios tempranos, con vaciamiento ganglionar en casos de compromiso. La cirugía micrográfica de Mohs se utiliza para casos localizados. La radioterapia y quimioterapia pueden ser opciones en metástasis o recurrencia. El seguimiento a largo plazo es crucial, y se necesita investigación continua para mejorar las estrategias de tratamiento.

Navigating Head and Neck Porocarcinoma: Systematic Review with Special Emphasis on Surgical Safety Margins.

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.

Presentation and Management of Porocarcinoma: A Systematic Review with Meta-Analysis of More Than One Thousand Patients

Introduction Porocarcinoma is an aggressive cutaneous carcinoma arising from the intraepidermal component of the sweat glands. Given its uncommon nature, only a limited number of studies have addressed this issue. This study summarizes the different presentations and management of the disease. Methods The eligible databases were searched to identify English-language studies published up to January 16th, 2024. The inclusion criteria comprised studies that focused on the presentation and management of eccrine porocarcinoma, with a clear statement of the outcomes of the chosen management. The data collected from the studies included the first author's name, country of study, type of study design, patient demography, the clinical presentation of the tumor and its location, histopathological findings, metastasis status, treatment strategy, and the subsequent prognosis. Results The initial search yielded 817 papers, with only 22 meeting the inclusion criteria. The studies comprised 1004 patients with a mean age of 78.7 years. In total, 527 (52.5%) of them were male and 461(45.9%) were female. The most commonly affected regions were the head and neck followed by the lower extremities. The most frequent treatment option was surgical excision in 876 (87.3%) patients. Distant metastasis accounted for about 2%, while lymph node involvement, occurred in 36 cases (3.6%). A good prognosis was reported in 57.3% of the cases. Both the age and tumor size had a significant effect on prognosis (p <0.05). ConclusionThe lesion can develop anywhere on the body, with a survival rate exceeding 50%. Wide-based surgical excision remains the predominant treatment option.

MALIGNANT SWEAT GLAND TUMOURS: A CASE SERIES

Objectives: Malignant sweat gland tumor is a very rare skin cancer with variable presentations. The objectives of this study are to examine the clinicopathological and immunohistochemical features of malignant sweat gland tumors and to discuss the treatment and follow-up for postsurgical recurrence rates. Methods: Six patients diagnosed with sweat gland carcinoma at the National Hospital of Dermatology and Venereology between 2018 and 2023 were carefully reviewed. Results: The cases occurred in four men and two women, ranging in age from 31 to 78 years (mean 59.3). Four of the lesions were from the scalp, one from the nose, and one from the right arm. There were three cases of Eccrine Porocarcinoma, two cases of Hidradenocarcinoma, and one case of Syringoid Eccrine Carcinoma. All of them were treated with surgery, five cases with wide local excision, and one case with Mohs micrographic surgery. Only one case had a recurrence. Conclusion: Malignant sweat gland tumors demonstrate significant variability in clinicopathology and immunohistopathology. Surgery is the mainstay of treatment. Received 28 June 2023Revised 26 September 2023Accepted 29 November 2023

Pazopanib elicits remarkable response in metastatic porocarcinoma: a functional precision medicine approach.

Metastatic porocarcinomas (PCs) are vanishingly rare, highly aggressive skin adnexal tumors with mortality rates exceeding 70%. Their rarity has precluded the understanding of their disease pathogenesis, let alone the conduct of clinical trials to evaluate treatment strategies. There are no effective agents for unresectable PCs. Here, we successfully demonstrate how functional precision medicine was implemented in the clinic for a metastatic PC with no known systemic treatment options. Comprehensive genomic profiling of the tumor specimen did not yield any actionable genomic aberrations. However, ex vivo drug testing predicted pazopanib efficacy, and indeed, administration of pazopanib elicited remarkable clinicoradiological response. Pazopanib and its class of drugs should be evaluated for efficacy in other cases of PC, and the rationale for efficacy should be determined when PC tumor models become available. A functional precision medicine approach could be useful to derive effective treatment options for rare cancers.

Evolving Pink Papule in a Young Female

Eccrine porocarcinoma (EPC) is a rare cutaneous adnexal tumor derived from sweat glands. Typically, EPC presents as a nonspecific erythematous papule or nodule most commonly on the head, neck, or lower extremities of females in the sixth or seventh decade of life. This tumor may arise from an existing benign eccrine poroma or occur de novo. Herein, we report a case of a growing erythematous nodule with overlying telangiectasia on the lower extremity of a woman in her twenties. Biopsy revealed a cyst-like lesion beneath the epidermis comprised of clear fluid material. Both solid and cystic components were present alongside pleomorphic tumor cell aggregates characterized by mitotic figures, hyperchromasia, and necrosis. The combination of clinical presentation and the presence of ductal structures on histopathologic analysis led to a diagnosis of EPC. This case reinforces the critical importance of histopathologic analysis of a nonspecific lesion that has evolved over time and may resemble other forms of cutaneous malignancy.

44190 Differences in demographic variables and survival in eccrine porocarcinoma patients undergoing Mohs micrographic surgery on a national scale

44190 Differences in demographic variables and survival in eccrine porocarcinoma patients undergoing Mohs micrographic surgery on a national scale

Eccrine Poroma: Pathogenesis, New Diagnostic Tools and Association with Porocarcinoma-A Review.

Eccrine poroma (EP) is a relatively rare benign adnexal neoplasm that usually affects elderly patients. Its pathogenesis is still under investigation, but recent gene studies have revealed gene fusions as key incidences resulting in oncogenetic pathways. It often presents as a solitary, firm papule, mostly asymptomatic, located on the soles or palms. Due to its clinical and dermoscopic variability, it is characterized as the great imitator. We performed a literature review, aiming to summarize current data on the pathogenetic mechanisms, new dermoscopic features, and novel diagnostic tools that may aid in early diagnosis and proper management of this rare adnexal tumor. Furthermore, we reviewed the possible pathogenetic associations between EP and its malignant counterpart, namely eccrine porocarcinoma. This systematic approach may aid in understanding the pathogenetic mechanisms and how to use novel histopathologic markers and imaging methods to overcome the diagnostic dilemma of this rare tumor.

Eccrine Porocarcinoma: Clinical and Histopathological Study of 14 Patients with Special Emphasis on Sentinel Lymph Node Biopsy.

Eccrine porocarcinoma is a rare skin adnexal tumour that affects elderly people. Most eccrine porocarcinomas are stage I or II according to the American Joint Committee on Cancer. The prognosis is good in early stages, but worsens when advanced. Since information on the use of sentinel lymph node biopsy in these patients is scarce, this study examined the records of all patients with eccrine porocarcinoma treated at Helsinki University Hospital during a 17-year period and focused on sentinel lymph node biopsy patients. The study identified 14 patients (9 male, 5 female). There were 2 metastases to the lymph nodes and 2 recurrences at initial referral to our institution. All primary tumours had wide local excision and 6 patients also had sentinel lymph node biopsy, of whom none had positive lymph nodes. There were no new metastases or recurrences during follow-up. Three patients died of causes other than eccrine porocarcinoma. When comparing the wide local excision only and wide local excision with sentinel lymph node biopsy groups, no parameters reached statistical significance. The decision process of the multidisciplinary tumour board meeting on whether to perform sentinel lymph node biopsy was not clear, perhaps due to the limited knowledge of eccrine porocarcinoma. Further studies and international collaboration are warranted.

Porocarcinoma of the Left Foot: A Case Review.

Eccrine porocarcinoma is a rare malignant tumor of the eccrine sweat gland. This malignancy occurs most commonly in the lower extremities. It tends to occur in patients aged 60 to 80 years, affecting men and women equally. We present the case of a 62-year-old man with a lesion on the left foot. The diagnosis of the initial biopsy was squamous cell carcinoma. Six months later, the lesion reoccurred, and a second biopsy confirmed it to be eccrine porocarcinoma.

Eccrine Porocarcinoma of the Vulva With Sarcomatoid Transformation, a New Human Papillomavirus-associated Malignancy? Case Report and Review of the Literature.

Eccrine porocarcinoma is a rare cutaneous neoplasm, and rarer still in the anogenital region. In the vulva, the most common carcinoma by far is squamous cell carcinoma; however, eccrine porocarcinoma can arise at this site. As the distinction between porocarcinoma and squamous cell carcinoma has important prognostic implications at other cutaneous sites, it stands to reason that it may have these same implications in the vulva. We present a case of an eccrine porocarcinoma in the vulva of a 70-year-old woman that, in addition, showed sarcomatoid transformation. This tumor harbored human papillomavirus-18 DNA and mRNA, raising the question of the role of the oncogenic virus in sweat gland neoplasms of the vulva.

Wide Local Excision for Eccrine Porocarcinoma of the Forearm.

Eccrine porocarcinoma is a rare and aggressive cutaneous malignancy that develops in the seventh and eight decades of life. We present a 76-year-old male with eccrine porocarcinoma developing from a long standing previously benign lesion who underwent successful treatment with wide local excision. It can also develop de novo, presenting most commonly as a mass or nodule. Tissue biopsy with histopathology is required to confirm the diagnosis. Wide local excision is recommended for local disease. Radiation and chemotherapy can be used as adjuncts in advanced and metastatic disease. Given its rarity, there are no guidelines to direct therapy for locally advance or metastatic disease and for follow-up. Further studies are needed to better understand and guide management of this entity.

Eccrine Porocarcinoma: A Review of the Literature

Eccrine porocarcinoma (EPC) constitutes a rare malignant adnexal tumor, which accounts for about 0.005–0.01% of all cutaneous malignancies. It may develop de novo or arise from an eccrine poroma, after a latency period of years or even decades. Accumulating data suggest that specific oncogenic drivers and signaling pathways may be implicated in its tumorigenesis, while recent data have demonstrated a high overall mutation rate attributed to UV exposure. Diagnosis may be challenging and should rely on the combination of clinical, dermoscopical, histopathological and immunohistochemical findings. The literature is controversial regarding tumor behavior and prognosis and, therefore, there is no consensus on its surgical management, utility of lymph-node biopsy and further adjuvant or systemic treatment. However, recent advances in tumorigenesis of EPC may aid in the development of novel treatment strategies, which could improve survival of advanced or metastatic disease, such as immunotherapy. This review presents an update of the epidemiology, pathogenesis and clinical presentation of EPC and summarizes current data on diagnostic evaluation and management of this rare cutaneous malignancy.