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Cureus Jan 2024Poroid hidradenoma represents an uncommon and benign tumor originating from skin adnexa. It falls under the category of sweet duct neoplasms, along with poromas. It...
Poroid hidradenoma represents an uncommon and benign tumor originating from skin adnexa. It falls under the category of sweet duct neoplasms, along with poromas. It affects the elderly population most frequently. Typically, it emerges as a small, distinct, and painless lump beneath the skin's surface, often occurring on the head and neck regions. It is characterized by a low risk of malignant transformation. Accurate identification relies especially on histomorphological analysis considering the intricate resemblance it shares with other tumors originating from eccrine glands. Poroid hidradenoma has only recently been recognized, and only a limited number of cases have been reported in the medical literature. In this instance, we present an unusual occurrence of a giant poroid hidradenoma on the left forearm of an elderly patient.
PubMed: 38344641
DOI: 10.7759/cureus.52047 -
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 -
Indian Journal of Dermatology 2024
PubMed: 38841218
DOI: 10.4103/ijd.ijd_1031_23 -
Histopathology Jan 2024Merkel cell carcinoma (MCC) is frequently caused by the Merkel cell polyomavirus (MCPyV). Characteristic for these virus-positive (VP) MCC is MCPyV integration into the...
AIMS
Merkel cell carcinoma (MCC) is frequently caused by the Merkel cell polyomavirus (MCPyV). Characteristic for these virus-positive (VP) MCC is MCPyV integration into the host genome and truncation of the viral oncogene Large T antigen (LT), with full-length LT expression considered as incompatible with MCC growth. Genetic analysis of a VP-MCC/trichoblastoma combined tumour demonstrated that virus-driven MCC can arise from an epithelial cell. Here we describe two further cases of VP-MCC combined with an adnexal tumour, i.e. one trichoblastoma and one poroma.
METHODS AND RESULTS
Whole-genome sequencing of MCC/trichoblastoma again provided evidence of a trichoblastoma-derived MCC. Although an MCC-typical LT-truncating mutation was detected, we could not determine an integration site and we additionally detected a wildtype sequence encoding full-length LT. Similarly, Sanger sequencing of the combined MCC/poroma revealed coding sequences for both truncated and full-length LT. Moreover, in situ RNA hybridization demonstrated expression of a late region mRNA encoding the viral capsid protein VP1 in both combined as well as in a few cases of pure MCC.
CONCLUSION
The data presented here suggest the presence of wildtype MCPyV genomes and VP1 transcription in a subset of MCC.
Topics: Humans; Carcinoma, Merkel Cell; Merkel cell polyomavirus; Polyomavirus Infections; Poroma; Skin Neoplasms; Sweat Gland Neoplasms; Genomics
PubMed: 37830288
DOI: 10.1111/his.15068 -
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 -
The American Journal of Dermatopathology Aug 2023Cuticular poroma is a rare variant of poroma composed of exclusively or predominantly cuticular cells, namely of large cells with ample eosinophilic cytoplasm. We report...
Cuticular poroma is a rare variant of poroma composed of exclusively or predominantly cuticular cells, namely of large cells with ample eosinophilic cytoplasm. We report 7 cases of this rare tumor identified among 426 neoplasms diagnosed as poroma or porocarcinoma. The patients were 4 males and 3 females, ranging in age from 18 to 88 years. All presented with a solitary asymptomatic nodule. The location included knee (2 cases), shoulder, thigh, shin, lower arm, and neck (each 1). All lesions were surgically removed. No evidence of disease was observed in 5 patients with available follow-up (range 12-124 months).Microscopically, all neoplasms were composed of variably sized, focally closed packed, or interconnecting nodules constituted mostly of cuticular cells. Small poroid cells were a focal feature in 5 tumors, whereas in the remaining 2 cases, poroid cells with conspicuous but still in minority. Five neoplasms were somewhat asymmetric, with irregular outlines. Ductal differentiation and intracytoplasmic vacuoles were seen in 6 tumors. Other features variably encountered were conspicuous intranuclear pseudoinclusions, cystic change, occasional multinucleated cells, increased mitoses, and stromal desmoplasia. Four of the 5 tumors analyzed with next-generation sequencing yielded YAP1::NUTM1 fusions. In addition, various mutations, mostly of unknown significance were identified in one neoplasm.
Topics: Male; Female; Humans; Adolescent; Young Adult; Adult; Middle Aged; Aged; Aged, 80 and over; Poroma; Sweat Gland Neoplasms; Transcription Factors; Eccrine Porocarcinoma
PubMed: 37335840
DOI: 10.1097/DAD.0000000000002465 -
Clinical, Cosmetic and Investigational... 2023Eccrine poroma (EP) is a benign skin appendicular tumor that differentiates into the terminal sweat duct and is often differentiated from basal cell carcinoma (BCC) and...
Eccrine poroma (EP) is a benign skin appendicular tumor that differentiates into the terminal sweat duct and is often differentiated from basal cell carcinoma (BCC) and seborrheic keratosis. This report describes a 58-year-old woman who presented with left occipital plaque. Histopathological analysis showed that the tumor cells were located in the lower part of the epidermis. The tumor cells were cuboidal or circular basal-like cells of the same size. The surrounding cells were not arranged in a palisade shape. Scattered tumor clusters composed of basal-like cells were also seen in the dermis, staining basophilic, and the surrounding cells were arranged in a palisade pattern. Immunohistochemistry showed that BerEP4, epithelial membrane antigen EMA, carcinoembryonic antigen CEA, Bcl-2, CD10, CK7 were positive, AR, PAS were negative. According to the pathological examination and immunohistochemical results, a case of eccrine poroma with concurrent basal cell carcinoma was diagnosed.
PubMed: 37881203
DOI: 10.2147/CCID.S428611 -
Journal of Cutaneous Pathology Aug 2023Poromatosis is a rare condition characterized by the development of multiple poromas, mainly reported in patients with a history of malignancy. Recently, frequent...
Poromatosis is a rare condition characterized by the development of multiple poromas, mainly reported in patients with a history of malignancy. Recently, frequent YAP1::MAML2 and YAP1::NUTM1 fusions have been described in poromas and porocarcinomas. To date, the molecular features of poromatosis have been investigated in one patient only, wherein the poromas harbored YAP1::MAML2 fusions. Herein, we present two additional cases of poromatosis with YAP1::MAML2 fusions. Case 1: An 81-year-old woman presented with nine papules on the scalp, trunk, and extremities persisting for a year. She had a history of breast cancer, with no information on the treatment. Seven papules were excised. Case 2: A 65-year-old woman presented with 21 lesions on her trunk and lower extremities persisting for 2 years. She had been diagnosed with breast cancer 11 years prior and had undergone partial mastectomy, radiotherapy, chemotherapy, and endocrine therapy. Four lesions were excised. All 11 lesions in both patients were histopathologically similar: anastomosing cords and strands extending from the epidermis, and poroid and cuticular cell proliferation with interspersed small ducts. The tumors showed diffuse nuclear expression of YAP1 N-terminus and loss of YAP1 C-terminus expression. No lesions showed NUT immunopositivity. Sanger sequencing identified YAP1::MAML2 fusions in the poromas of both patients.
Topics: Female; Humans; Aged, 80 and over; Aged; Poroma; Breast Neoplasms; Sweat Gland Neoplasms; Mastectomy; Transcription Factors; Trans-Activators
PubMed: 36723803
DOI: 10.1111/cup.14401 -
The American Surgeon Aug 2023Eccrine 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...
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.
Topics: Male; Humans; Aged; Eccrine Porocarcinoma; Forearm; Sweat Gland Neoplasms; Biopsy; Neoplasms, Second Primary
PubMed: 37130355
DOI: 10.1177/00031348231173961 -
Journal of Cutaneous Pathology Mar 2024Porocarcinomas are rare sweat gland cancers representing the malignant counterpart to benign poromas. Their diagnosis can be challenging, especially in the absence of an...
Porocarcinomas are rare sweat gland cancers representing the malignant counterpart to benign poromas. Their diagnosis can be challenging, especially in the absence of an associated poroma or when the tumor is poorly differentiated. Since recurrent YAP1::MAML2 and YAP1::NUTM1 fusions have been identified in poroid tumors, molecular studies provide an opportunity to support the diagnosis in challenging cases. We describe a case of a female patient in her early 90s, with a polypoid mass of the hip. Histopathologically, there was a poorly differentiated malignant spindle cell tumor adjacent to a poroma. Because of the close association with a poroma and immunoreactivity for p40, a diagnosis of spindle cell porocarcinoma was rendered, which was further supported by YAP1 immunohistochemical studies. Antibodies targeting both the N-terminus and C-terminus confirmed YAP1 rearrangement in both the poroma and the spindle cell neoplasm. Subsequent targeted RNA sequencing revealed a YAP1::MAML3 gene fusion. MAML3 has previously not yet been reported as a YAP1 fusion partner in porocarcinoma. With the illustration of a rare spindle cell variant of porocarcinoma and the identification of a novel gene fusion, this case report expands the spectrum of morphologic and genomic aberrations associated with porocarcinoma.
Topics: Female; Humans; Eccrine Porocarcinoma; Poroma; Sweat Gland Neoplasms; Trans-Activators; Transcription Factors; Aged, 80 and over
PubMed: 38088454
DOI: 10.1111/cup.14575