-
Cancers Oct 2022Eccrine porocarcinoma, also known as porocarcinoma (PC) and malignant eccrine poroma, is very rare and is known to arise from the cutaneous intraepidermal ducts of the... (Review)
Review
Eccrine porocarcinoma, also known as porocarcinoma (PC) and malignant eccrine poroma, is very rare and is known to arise from the cutaneous intraepidermal ducts of the sweat glands. Its etiology is not well understood; however, some studies suggest that PC tumors originate from benign eccrine poroma. Recently, several gene alterations have been reported in PC that can reveal mechanisms of the oncogenic process. Since the clinical and histopathological findings of PC are variable, PC is difficult to diagnose precisely, especially when the histology resembles that of cutaneous squamous cell carcinoma or poroma. Immunohistochemical staining with carcinoembryonic antigen and epithelial membrane antigen may help to distinguish PC from other tumors. The standard treatment for local PC is wide local excision. The prognosis of patients with metastatic PC is poor, with mortality rates of approximately 60-70%. The efficacy of radiation and chemotherapy for metastatic PC is limited; however, immunotherapy with pembrolizumab, a programmed cell death protein 1 inhibitor, could be a promising treatment. This review focuses on the history, pathogenesis, pathological features, diagnosis, and treatment of eccrine porocarcinoma.
PubMed: 36358649
DOI: 10.3390/cancers14215232 -
Cancers Jan 2022Cutaneous sweat gland tumors are a subset of adnexal neoplasms that derive or differentiate into the sweat apparatus. Their great diversity, rarity, and complex... (Review)
Review
Cutaneous sweat gland tumors are a subset of adnexal neoplasms that derive or differentiate into the sweat apparatus. Their great diversity, rarity, and complex terminology make their pathological diagnosis challenging. Recent findings have revealed a wide spectrum of oncogenic drivers, several of which are of diagnostic interest for pathologists. Most of these molecular alterations are represented by gene fusions, which are shared with other homologous neoplasms occurring in organs containing exocrine glands, such as salivary and breast glands, which show similarities to the sweat apparatus. This review aims to provide a synthesis of the most recent immunohistochemical and molecular markers used for the diagnosis of sweat gland tumors and to highlight their relationship with similar tumors in other organs. It will cover adenoid cystic carcinoma (, and fusion), cutaneous mixed tumor ( fusion), cylindroma and spiradenoma and their carcinomas thereof (NF-κB activation through inactivation or hotspot mutation), hidradenoma and hidradenocarcinoma ( fusion), myoepithelioma ( and fusion), poroma and porocarcinoma (, and fusion), secretory carcinoma (, fusion), tubular adenoma and syringo-cystadenoma papilliferum ( and activating mutations). Sweat gland tumors for which there are no known molecular abnormalities will also be briefly discussed, as well as potential future developments.
PubMed: 35158743
DOI: 10.3390/cancers14030476 -
Genes, Chromosomes & Cancer May 2022Gene fusions have been increasingly identified as central events driving oncogenesis in a variety of benign and malignant neoplasms of different histogenesis originating... (Review)
Review
Gene fusions have been increasingly identified as central events driving oncogenesis in a variety of benign and malignant neoplasms of different histogenesis originating in diverse organs. While some fusion-driven neoplasms may occur at any body site, certain genotypes and their associated phenotypic entities cluster to specific body site/organ, albeit with variable frequencies among anatomic locations. In the last two decades, several skin adnexal entities driven by specific fusions have been described; some of them represent new entities (eg, secretory carcinoma harboring NTRK fusions), while others are old established entities with newly discovered underlying gene fusions (eg, poroid neoplasms harboring NUTM1, YAP1, and WWTR1 fusions). While limited availability of next generation sequencing tools in routine practice has largely limited and delayed discovery of fusions in old entities, the increasing availability of novel immunoantibodies as surrogates to recognize gene fusions (such as NUT and YAP1 immunohistochemistry) represents a relatively cheap, quick, and reliable routine tool for their proper recognition and appropriate classification. This review highlights the main, recently defined skin adnexal carcinomas carrying gene fusions.
Topics: Carcinoma; Gene Fusion; Humans; Immunohistochemistry; Neoplasm Proteins; Nuclear Proteins; Oncogene Proteins, Fusion; Transcription Factors
PubMed: 35167714
DOI: 10.1002/gcc.23031 -
Dermatopathology (Basel, Switzerland) Jan 2022Poromas or poroid tumors are a group of rare, benign cutaneous neoplasms derived from the terminal eccrine or apocrine sweat gland duct. There are four poroma variants... (Review)
Review
Poromas or poroid tumors are a group of rare, benign cutaneous neoplasms derived from the terminal eccrine or apocrine sweat gland duct. There are four poroma variants with overlapping features: dermal duct tumor (DDT), eccrine poroma, hidroacanthoma simplex, and poroid hidradenoma, of which DDT is the least common. Clinically, the variants have a nonspecific appearance and present as solitary dome-shaped papules, plaques, or nodules. They can be indistinguishable from each other and a multitude of differential diagnoses, necessitating a better understanding of the characteristics that make the diagnosis of poroid neoplasms. However, there remains a paucity of information on these lesions, especially DDTs, given their infrequent occurrence. Herein, we review the literature on DDTs with an emphasis on epidemiology, pathogenesis, clinical features, diagnosis, and management.
PubMed: 35225875
DOI: 10.3390/dermatopathology9010007 -
Histopathology Jan 2022Tumours of the cutaneous adnexa arise from, or differentiate towards, structures in normal skin such as hair follicles, sweat ducts/glands, sebaceous glands or a... (Review)
Review
AIMS
Tumours of the cutaneous adnexa arise from, or differentiate towards, structures in normal skin such as hair follicles, sweat ducts/glands, sebaceous glands or a combination of these elements. This class of neoplasms includes benign tumours and highly aggressive carcinomas. Adnexal tumours often present as solitary sporadic lesions, but can herald the presence of an inherited tumour syndrome such as Muir-Torre syndrome, Cowden syndrome or CYLD cutaneous syndrome. In contrast to squamous cell carcinoma and basal cell carcinoma, molecular changes in adnexal neoplasia have been poorly characterised and there are few published reviews on the current state of knowledge.
METHODS AND RESULTS
We reviewed findings in peer-reviewed literature on molecular investigations of cutaneous adnexal tumours published to June 2021.
CONCLUSIONS
Recent discoveries have revealed diverse oncogenic drivers and tumour suppressor alterations in this class of tumours, implicating pathways including Ras/MAPK, PI3K, YAP/TAZ, beta-catenin and nuclear factor kappa B (NF-κB). These observations have identified novel markers, such as NUT for poroma and porocarcinoma and PLAG1 for mixed tumours. Here, we provide a comprehensive overview and update of the molecular findings associated with adnexal tumours of the skin.
Topics: Biomarkers, Tumor; Hair Follicle; Humans; Pathology, Molecular; Sebaceous Gland Neoplasms; Sebaceous Glands; Skin; Skin Neoplasms; Sweat Gland Neoplasms
PubMed: 34197659
DOI: 10.1111/his.14441 -
Diagnostics (Basel, Switzerland) Apr 2023Eccrine 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... (Review)
Review
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.
PubMed: 37189532
DOI: 10.3390/diagnostics13081431 -
International Journal of Dermatology Jul 2022Eccrine tumors are a rare cutaneous adnexal neoplasm originating from the sweat glands. The periungual region represents an uncommon localization for these neoplasms. We... (Review)
Review
Eccrine tumors are a rare cutaneous adnexal neoplasm originating from the sweat glands. The periungual region represents an uncommon localization for these neoplasms. We analyzed all published demographic, clinical, and treatment data on periungual eccrine tumors. A systematic review following PRISMA guidelines was performed of articles published prior to March 2021. Articles were included in the review if a full-text English version was available. Of the surveyed literature, 27 full-text case reports were included in the final analysis. Benign eccrine poroma and porocarcinoma were the most common tumor subtypes (nine and eight cases, respectively). Males were only affected by poroma and porocarcinoma, while females were affected by all tumor subtypes. The first toe was the most common lower extremity affected. Misdiagnosis led to delayed treatment in 25% of cases. As such, while periungual eccrine neoplasms are rare diagnoses, the nonspecific presentations of these growths raise concerns about misdiagnosis and delayed treatment. Further research is needed related to sex-differences in the epidemiology of these growths and into the prevalence of the first toe as a location. These tumors should be considered in the differential diagnosis for nail unit afflictions.
Topics: Diagnosis, Differential; Eccrine Porocarcinoma; Female; Humans; Male; Poroma; Skin Neoplasms; Sweat Gland Neoplasms
PubMed: 34494261
DOI: 10.1111/ijd.15893 -
Indian Journal of Dermatology,... 2020
Topics: Foot; Humans; Male; Middle Aged; Poroma; Sweat Gland Neoplasms
PubMed: 31249214
DOI: 10.4103/ijdvl.IJDVL_924_18