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The American Journal of Dermatopathology Oct 2023
Topics: Humans; Keratosis, Seborrheic; Poroma; Immunohistochemistry; Diagnosis, Differential; Skin Neoplasms; Eccrine Porocarcinoma; Carcinoma in Situ; Sweat Gland Neoplasms; GATA3 Transcription Factor
PubMed: 37506277
DOI: 10.1097/DAD.0000000000002503 -
Clinical and Experimental Dermatology Sep 2023
Topics: Humans; Poroma; Dermoscopy; Carcinoma, Basal Cell; Skin Neoplasms; Sweat Gland Neoplasms; Diagnosis, Differential
PubMed: 37401454
DOI: 10.1093/ced/llad225 -
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 -
The Australasian Journal of Dermatology Aug 2023Combined tumours are uncommon and therefore these tumours may pose a diagnostic challenge. In the current case report, it is aimed to present the clinicopathological...
Combined tumours are uncommon and therefore these tumours may pose a diagnostic challenge. In the current case report, it is aimed to present the clinicopathological features of a combined tumour including melanoma with aberrant cytokeratin expression and poroma.
Topics: Humans; Poroma; Skin Neoplasms; Melanoma; Sweat Gland Neoplasms; Melanoma, Cutaneous Malignant
PubMed: 37319006
DOI: 10.1111/ajd.14111 -
Histopathology Aug 2023Poroma is a benign adnexal neoplasm with differentiation towards the upper portion of the sweat gland apparatus. In 2019, Sekine et al. demonstrated recurrent...
AIMS
Poroma is a benign adnexal neoplasm with differentiation towards the upper portion of the sweat gland apparatus. In 2019, Sekine et al. demonstrated recurrent YAP1::MAML2 and YAP1::NUTM1 fusion in poroma and porocarcinoma. Follicular, sebaceous and/or apocrine differentiation has been reported in rare cases of poroma and whether these tumours constitute a variant of poroma or represent a distinctive tumour is a matter to debate. Herein we describe the clinical, immunophenotypic, and molecular features of 13 cases of poroma with folliculo-sebaceous differentiation.
METHODS AND RESULTS
Most of the tumours were located on the head and neck region (n = 7), and on the thigh (n = 3). All presented were adults with a slight male predilection. The median tumour size was 10 mm (range: 4-25). Microscopically, lesions displayed features of poroma with nodules of monotonous basophilic cells associated with a second population of larger eosinophilic cells. In all cases, ducts and scattered sebocytes were identified. Infundibular cysts were present in 10 cases. In two cases high mitotic activity was noted, and in three cases cytologic atypia and areas of necrosis were identified. Whole transcriptome RNA sequencing demonstrated in-frame fusion transcripts involving RNF13::PAK2 (n = 4), EPHB3::PAK2 (n = 2), DLG1::PAK2 (n = 2), LRIG1::PAK2 (n = 1), ATP1B3::PAK2 (n = 1), TM9SF4::PAK2 (n = 1), and CTNNA1::PAK2 (n = 1). Moreover, fluorescence in situ hybridisation (FISH) analysis revealed PAK2 rearrangement in an additional case. No YAP1::MAML2 or YAP1::NUTM1 fusion was detected.
CONCLUSION
Recurrent fusions involving the PAK2 gene in all analysed poroma with folliculo-sebaceous differentiation in this study confirms that this neoplasm represents a separate tumour entity distinct from YAP1::MAML2 or YAP1::NUTM1 rearranged poromas.
Topics: Male; Humans; Poroma; Transcription Factors; Sweat Gland Neoplasms; Cell Differentiation; p21-Activated Kinases; Sodium-Potassium-Exchanging ATPase; Membrane Proteins
PubMed: 37199682
DOI: 10.1111/his.14940 -
The Australasian Journal of Dermatology Aug 2023Poroma is skin cancer that arises from the sweat gland cells. Its diagnosis could be difficult. Line-field optical coherence tomography (LC-OCT) is a novel imaging...
Poroma is skin cancer that arises from the sweat gland cells. Its diagnosis could be difficult. Line-field optical coherence tomography (LC-OCT) is a novel imaging technique that has shown promise in the diagnosis and monitoring of various skin conditions. We report a case of poroma diagnosed by LC-OCT.
Topics: Humans; Poroma; Sweat Gland Neoplasms; Tomography, Optical Coherence; Sweat Glands; Skin Neoplasms
PubMed: 37154231
DOI: 10.1111/ajd.14070 -
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 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