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The Journal of Clinical Investigation May 2019Poroma is a benign skin tumor exhibiting terminal sweat gland duct differentiation. The present study aimed to explore the potential role of gene fusions in the...
Poroma is a benign skin tumor exhibiting terminal sweat gland duct differentiation. The present study aimed to explore the potential role of gene fusions in the tumorigenesis of poromas. RNA sequencing and reverse transcription PCR identified highly recurrent YAP1-MAML2 and YAP1-NUTM1 fusions in poromas (92/104 lesions, 88.5%) and their rare malignant counterpart, porocarcinomas (7/11 lesions, 63.6%). A WWTR1-NUTM1 fusion was identified in a single lesion of poroma. Fluorescent in-situ hybridization confirmed genomic rearrangements involving these genetic loci. Immunohistochemical staining could readily identify the YAP1 fusion products as nuclear expression of the N-terminal portion of YAP1 with a lack of the C-terminal portion. YAP1 and WWTR1, also known as YAP and TAZ, respectively, encode paralogous transcriptional activators of TEAD, which are negatively regulated by the Hippo signaling pathway. The YAP1 and WWTR1 fusions strongly transactivated a TEAD reporter and promoted anchorage-independent growth, confirming their tumorigenic roles. Our results demonstrate the frequent presence of transforming YAP1 fusions in poromas and porocarcinomas and suggest YAP1/TEAD-dependent transcription as a candidate therapeutic target against porocarcinoma.
Topics: Adaptor Proteins, Signal Transducing; Adult; Aged; Aged, 80 and over; Animals; Carcinoma; Female; Genes, Reporter; HEK293 Cells; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; Male; Mice; Middle Aged; Mutation; NIH 3T3 Cells; Neoplasm Proteins; Nuclear Proteins; Oncogene Proteins, Fusion; Poroma; Signal Transduction; Sweat Gland Neoplasms; Trans-Activators; Transcription Factors; Transcriptional Coactivator with PDZ-Binding Motif Proteins; YAP-Signaling Proteins
PubMed: 31145701
DOI: 10.1172/JCI126185 -
Dermatology Practical & Conceptual Apr 2024
PubMed: 38810035
DOI: 10.5826/dpc.1402a131 -
International Journal of Dermatology Jul 2021
Topics: Epidermolysis Bullosa; Epidermolysis Bullosa Dystrophica; Genes, Recessive; Humans; Poroma; Skin; Sweat Gland Neoplasms
PubMed: 33655513
DOI: 10.1111/ijd.15475 -
Indian Journal of Dermatology Jan 2014An eccrine poroma is a solitary tumor arising from the eccrine duct epithelium in the epidermis. The lesions commonly occur on the sole of the foot, the hands, and...
An eccrine poroma is a solitary tumor arising from the eccrine duct epithelium in the epidermis. The lesions commonly occur on the sole of the foot, the hands, and occasionally on the nose, eyelids, neck, and chest. We report a patient who presented with a slow-growing nodular lesion over her left cheek, prompting a diagnosis of basal cell carcinoma or keratoacanthoma. Biopsy from the nodule revealed a well-defined epidermal tumor with uniform small cuboidal cells with rounded deeply basophilic nuclei, few narrow ductal lumina, and occasional cystic spaces confirming the diagnosis of an eccrine poroma.
PubMed: 24470670
DOI: 10.4103/0019-5154.123515 -
Skin Appendage Disorders Jul 2020Eccrine poroma is a benign adnexal tumour, which originates from the acrosyringium of eccrine sweat glands. Eccrine poroma is an uncommon neoplasm, the typical clinical...
Eccrine poroma is a benign adnexal tumour, which originates from the acrosyringium of eccrine sweat glands. Eccrine poroma is an uncommon neoplasm, the typical clinical presentation of which is a solitary soft sessile reddish papule protruding from a cup-shaped shallow depression. Many challenges remain in the diagnosis of eccrine poroma because it does not always present with classical features and may mimic any other cutaneous benign and malignant lesions. Eccrine poromas may occur on any skin surface with sweat glands; on the other hand, the most common sites of involvement include the palms and soles, which are rich in eccrine sweat glands. Here, we present a case of subungual eccrine poroma, which is an extremely rare presentation of poromas. We also highlight dermoscopic features of eccrine poroma and review the available literature on the subject.
PubMed: 32903899
DOI: 10.1159/000508668 -
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 -
The American Journal of Dermatopathology Oct 1993Squamous differentiation in poral adnexal neoplasms is a rare event. Two cases are presented of malignant eccrine poroma in which areas of squamous differentiation... (Review)
Review
Squamous differentiation in poral adnexal neoplasms is a rare event. Two cases are presented of malignant eccrine poroma in which areas of squamous differentiation showing the features of squamous cell carcinoma were present. The areas of squamous differentiation were found within the invasive components of the lesions and appeared to result from direct transformation of the poral epithelial cells. A review of the literature on this unusual phenomenon is presented.
Topics: Acrospiroma; Aged; Aged, 80 and over; Carcinoma, Squamous Cell; Cell Nucleus; Cell Transformation, Neoplastic; Cytoplasm; Cytoplasmic Granules; Foot Diseases; Humans; Hyalin; Keratinocytes; Keratins; Male; Neoplasm Invasiveness; Sweat Gland Neoplasms; Thigh
PubMed: 7694517
DOI: 10.1097/00000372-199310000-00016 -
Open Access Macedonian Journal of... Sep 2019Eccrine poroma is a benign tumour of eccrine duct epithelium. The usual clinical presentation is nodular.
BACKGROUND
Eccrine poroma is a benign tumour of eccrine duct epithelium. The usual clinical presentation is nodular.
CASE REPORT
We present a 78-year-old man with a painful pendulating flesh-coloured malodorous plantar tumour. Differential diagnoses included telangiectatic granuloma, acrochordon, basal cell or squamous cell carcinoma, cylindroma, amelanotic melanoma, and verruca. Microbiological investigations identified numerous bacteria including Corynebacterium striatum, Streptococcus dysgalactiae, Staphylococcus aureus, Citrobacter koseri. We performed surgery since the tumour hampered his mobility. Histopathology revealed a well-circumscribed tumour composed of cuboidal cells with eosinophilic cytoplasm. Healing was unremarkable.
CONCLUSIONS
Pendulating plantar eccrine poroma is a rare clinical presentation of this benign adnexal tumour. Often asymptomatic, in some cases the tumour may become painful. Because of the bacterial colonisation, it could lead to deep soft tissue infections. Malignant transformation is possible. Surgical removal is the treatment of choice.
PubMed: 31850106
DOI: 10.3889/oamjms.2019.464 -
Scientific Reports Apr 2022Eccrine porocarcinoma (EPC) is a rare malignant adnexal tumour of the skin. Part of EPCs develop from their benign counterpart, poroma (EP), with chronic light exposure...
Eccrine porocarcinoma (EPC) is a rare malignant adnexal tumour of the skin. Part of EPCs develop from their benign counterpart, poroma (EP), with chronic light exposure and immunosuppression hypothesized to play a role in the malignant transformation. However, the impact of chronic light exposure on the microenvironment of EPCs and EPs has not been investigated yet. Although the clinical relevance of tumour infiltrating lymphocytes (TILs) and tertiary lymphoid structures (TLSs) has been established in various tumours, their distribution and significance in EPCs and EPs is still poorly understood. We characterized the distribution of TILs and TLSs using CD3, CD4, CD8, CD20 immunohistochemistry in a cohort of 10 EPCs and 49 EPs. We then classified our samples using solar-elastosis grading, analyzing the influence of ultraviolet (UV) damage on TIL density. A negative correlation between UV damage and TIL density was observed (CD4 r = -0.286, p = 0.04. CD8 r = -0.305, p = 0.033). No significant difference in TIL density was found between EPCs and EPs. TLS was scarse with the presence rate 10% in EPCs and 8.3% in EPs. The results suggest that UV has an immunosuppressive effect on the microenvironment of EPCs and EPs.
Topics: Eccrine Porocarcinoma; Humans; Immunosuppression Therapy; Poroma; Sweat Gland Neoplasms; Tumor Microenvironment
PubMed: 35365704
DOI: 10.1038/s41598-022-09490-5 -
Sisli Etfal Hastanesi Tip Bulteni 2019Malignant eccrine poroma is a rare cutaneous malignancy. This study was a review of a series of patients with malignant eccrine poroma who underwent surgical treatment...
OBJECTIVES
Malignant eccrine poroma is a rare cutaneous malignancy. This study was a review of a series of patients with malignant eccrine poroma who underwent surgical treatment conducted in order to evaluate the management techniques and outcomes of treatment modalities.
METHODS
All cases of surgically excised malignant eccrine poroma performed in a single clinic between 2012 and 2018 were included in the study. The details of patient age, gender, anatomical location of the tumor, histopathological features, and treatment modalities were analyzed.
RESULTS
The average tumor size was 2.53 cm (range: 0.3-7 cm). The average tumor thickness was 3.06 mm (range: 2.5-4 mm). The mean clean tumor margin after the first excision was 1.28 mm and the mean tumor margin after the second excision was 8.83 mm. No recurrence or distant metastasis was detected in any of the patients during the follow-up period.
CONCLUSION
Unlike frequent skin cancers, rare skin cancers, like malignant eccrine poroma, don't have definite treatment algorithms constituted from randomized trials. The findings of patient series are very useful to guide physicians in these cases.
PubMed: 33536823
DOI: 10.14744/SEMB.2018.10170