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The American Journal of Dermatopathology Jan 2023Porocarcinomas are rare tumors derived from the acrosyringium and eccrine ducts, which most commonly occur on the lower extremities or head and neck region in older... (Review)
Review
Porocarcinomas are rare tumors derived from the acrosyringium and eccrine ducts, which most commonly occur on the lower extremities or head and neck region in older adults. Microscopically, they invariably demonstrate continuity with the epithelium, showing downgrowth of broad anastomosing bands with more infiltrative intradermal cords and nests of pleomorphic tumor cells with ductal lumina; an associated poroma may also be seen. We report an unusual case of a porocarcinoma arising on the scrotum of a 55-year-old man. Because of the extraordinary location and the presence of keratinizing squamous differentiation, distinction from a squamous cell carcinoma was particularly challenging. Close examination revealed the presence of a co-existing poroma, and immunohistochemistry revealed loss of YAP1 with diffuse nuclear expression of NUT in both the porocarcinoma and poroma components. This finding is particularly suggestive of a YAP1::NUTM1 fusion which has been reported to be highly specific for poroid neoplasms. Distinction of porocarcinoma from its mimics is important due to the frequent aggressive behavior of this neoplasm.
Topics: Male; Humans; Aged; Middle Aged; Sweat Gland Neoplasms; Eccrine Porocarcinoma; Poroma; Scrotum; Eccrine Glands
PubMed: 36484607
DOI: 10.1097/DAD.0000000000002327 -
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 -
The Australasian Journal of Dermatology Feb 2023
Topics: Humans; Poroma; Dermoscopy; Skin Neoplasms; Sweat Gland Neoplasms; Diagnosis, Differential
PubMed: 36412254
DOI: 10.1111/ajd.13957 -
Journal of the American Podiatric... 2023Eccrine poroma is a benign adnexal neoplasm often mistaken for pyogenic granuloma, skin tag, squamous cell carcinoma, and other soft-tissue tumors. We describe a...
Eccrine poroma is a benign adnexal neoplasm often mistaken for pyogenic granuloma, skin tag, squamous cell carcinoma, and other soft-tissue tumors. We describe a 69-year-old woman with a soft-tissue mass on the lateral aspect of her right hallux that was initially clinically diagnosed as a pyogenic granuloma. Histologic examination proved that this mass was instead an eccrine poroma, the rare benign sweat gland tumor. This case exemplifies the importance of a broad differential diagnosis, especially regarding soft-tissue masses of the lower extremity.
Topics: Humans; Female; Aged; Poroma; Granuloma, Pyogenic; Sweat Gland Neoplasms; Skin Neoplasms; Diagnosis, Differential
PubMed: 36905614
DOI: 10.7547/21-110 -
Surgical Pathology Clinics Jun 2021Cutaneous adnexal tumors recapitulate follicular, sweat gland, and/or sebaceous epithelia, and range from benign tumors to aggressive carcinomas. Adnexal tumors can be... (Review)
Review
Cutaneous adnexal tumors recapitulate follicular, sweat gland, and/or sebaceous epithelia, and range from benign tumors to aggressive carcinomas. Adnexal tumors can be hallmarks for inherited tumor syndromes. Oncogenic drivers of adnexal neoplasms modulate intracellular pathways including mitogen-activated protein kinase, phosphoinositide-3-kinase, Wnt/β-catenin, Hedgehog, nuclear factor κB, and Hippo intracellular signaling pathways, representing potential therapeutic targets. Malignant progression can be associated with tumor suppressor loss, especially TP53. Molecular alterations drive expression of specific diagnostic markers, such as CDX2 and LEF1 in pilomatricomas/pilomatrical carcinomas, and NUT in poromas/porocarcinomas. In these ways, improved understanding of molecular alterations promises to advance diagnostic, prognostic, and therapeutic possibilities for adnexal tumors.
Topics: Carcinoma, Skin Appendage; Humans; Molecular Biology; Neoplasms, Adnexal and Skin Appendage; Skin Neoplasms
PubMed: 34023104
DOI: 10.1016/j.path.2021.03.004 -
Journal of the European Academy of... Sep 2022Cutaneous adnexal tumours (ATs) encompass a variegated group of hamartomas and benign or malignant tumours, originating from the hair follicle, sebaceous, eccrine or... (Review)
Review
Cutaneous adnexal tumours (ATs) encompass a variegated group of hamartomas and benign or malignant tumours, originating from the hair follicle, sebaceous, eccrine or apocrine glands that may simulate other cutaneous neoplasms. This study aims to provide a comprehensive overview of the spectrum of clinical and dermoscopic features of ATs, to better define these lesions and assist in the differential diagnosis. We performed a two-step systematic search of the literature in PubMed, Embase and Cochrane Library databases from inception until 4 September 2020. In the first step, we aimed to define histological variants of ATs with descriptions of dermoscopic criteria. The second step included a search for the name of each previously identified AT variants in the same databases adding 'AND (epilum* or dermosc* or dermatosc*)'. All study types in English language reporting dermoscopic images of ATs were included. Collisions between ATs and other inflammatory or neoplastic skin lesions were excluded, with the exception of collisions with a sebaceous nevus. The protocol of this study was prospectively registered in PROSPERO (CRD42021244677). In total, 206 articles met our inclusion criteria, encompassing 372 ATs in 365 patients. Most ATs were apocrine-eccrine (n = 217, 58.3%, n = 173 benign) with a prevalence of poromas (n = 82), followed by follicular ATs (n = 88, 23.7%, n = 83 benign) and sebaceous ATs (n = 67, 18.0%, n = 49 benign). Most patients had a single AT lesion (320, 86.0%), while 42 (11.3%) had multiple ATs. A syndrome causing multiple ATs was identified in 15 patients. Histopathological analysis revealed 82% benign (n = 305) and 18.0% malignant (n = 67). ATs were classified according to their ability to mimic four groups of more common skin tumours: basal cell carcinoma, squamous cell carcinoma, melanocytic lesions and benign cutaneous lesions. Moreover, we have highlighted the ability of malignant variants of ATs to simulate benign skin lesions. This systematic review offers a comprehensive overview of the common clinical and dermoscopic features of follicular, sebaceous and apocrine-eccrine ATs and details possible differential dermoscopic features.
Topics: Carcinoma, Basal Cell; Dermoscopy; Humans; Nevus, Sebaceous of Jadassohn; Skin Neoplasms; Sweat Gland Neoplasms
PubMed: 35536546
DOI: 10.1111/jdv.18210 -
Analytical Cellular Pathology... 2021Aquaporin 3 (AQP3) is the membrane channel of water and involved in fluid homeostasis. The aim of this study was to reveal the expression and significance of AQP3 in...
Aquaporin 3 (AQP3) is the membrane channel of water and involved in fluid homeostasis. The aim of this study was to reveal the expression and significance of AQP3 in cutaneous lesions. We analyzed AQP3 mRNA levels using RT-PCR in 311 cutaneous lesions and confirmed AQP3 expression in these lesions by immunohistochemistry. AQP3 mRNA was detected in normal epidermis, seborrheic keratosis, solar keratosis, Bowen's disease, squamous cell carcinoma, eccrine poroma, apocrine carcinoma, and sebaceoma; however, AQP3 mRNA was absent in basal cell carcinoma, nevocellular nevus, or malignant melanoma. By immunohistochemistry, diffuse AQP3 expression was seen in all keratotic lesions including seborrheic keratosis, verruca vulgaris, molluscum contagiosum, solar keratosis, Bowen's disease, and squamous cell carcinoma. Diffuse AQP3 expression was also present in all extramammary Paget's disease. No AQP3 staining was obtained in basal cell carcinoma. Positive AQP3 staining was seen in sweat gland tumors including hidradenoma, eccrine poroma, and apocrine carcinoma. Among sebaceous tumors, AQP3 expressed diffusely in all sebaceous hyperplasia and sebaceous adenoma, but not in sebaceous carcinomas. Only focal AQP3 staining was seen in nevocellular nevus and no AQP3 staining in melanoma. Our findings indicate the function of AQP3 maintained in most skin tumors. AQP3 may be used for differential diagnosis in skin tumors.
Topics: Aquaporin 3; Biomarkers, Tumor; Diagnosis, Differential; Humans; Skin Diseases; Skin Neoplasms
PubMed: 34745849
DOI: 10.1155/2021/7866471 -
Annals of Dermatology Dec 2020Secondary neoplasms in nevus sebaceous can develop during adolescence and adulthood. Trichoblastoma and syringocystadenoma papilliferum are the most common benign...
Secondary neoplasms in nevus sebaceous can develop during adolescence and adulthood. Trichoblastoma and syringocystadenoma papilliferum are the most common benign neoplasms, but poroma is rarely reported. A 28-year-old female presented with an asymptomatic mass on the scalp. She has had a hairless lesion on the scalp since birth. A soft mass developed on that lesion four years prior. Physical examination revealed a localized 1 cm×2.5 cm-sized brownish, verrucous-surfaced plaque with a 1 cm×1 cm-sized pedunculated erythematous tumor on the scalp. We performed skin biopsy on both the plaque and tumor lesions. The histopathological findings demonstrated the plaque lesion consistent with nevus sebaceous and the tumor lesion consistent with eccrine poroma. Surgical mass excision was performed. The patient was eventually diagnosed with eccrine poroma arising within nevus sebaceous. To the best of our knowledge, there are only six reported cases on poroma arising within nevus sebaceous. Although rarely documented in the literature, it should be considered as a secondary neoplasm within nevus sebaceous.
PubMed: 33911796
DOI: 10.5021/ad.2020.32.6.516 -
Annals of Dermatology Oct 2022
PubMed: 36198637
DOI: 10.5021/ad.21.009 -
Anais Brasileiros de Dermatologia 2022Eccrine poroma is the term that includes benign neoplasms of the terminal duct of the eccrine sweat glands, which may clinically and dermoscopically resemble other...
Eccrine poroma is the term that includes benign neoplasms of the terminal duct of the eccrine sweat glands, which may clinically and dermoscopically resemble other melanoma and non-melanoma skin tumors. They are often located on the extremities (especially palms and soles), presenting as normochromic or erythematous papules and nodules, measuring up to 2 cm. Pigmented variants are uncommon, accounting for less than 20% of cases. This report describes a 37-year-old man who developed a large pigmented eccrine poroma on his right shoulder, causing diagnostic difficulty. Histopathological examination revealed a nodular neoplasm consisting of small, monomorphic, cuboidal cells, with ample, eosinophilic cytoplasm and well-defined borders, in addition to conspicuous intercellular bridges, with melanin deposits diffusely distributed inside them. The absence of cytological atypia, cellular pleomorphism, increased mitotic activity, and necrosis foci corroborated the diagnostic exclusion of porocarcinoma, which can develop from eccrine poroma.
Topics: Adult; Diagnosis, Differential; Eccrine Porocarcinoma; Humans; Male; Poroma; Skin Neoplasms; Sweat Gland Neoplasms
PubMed: 35811192
DOI: 10.1016/j.abd.2021.10.006