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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 -
Medicine May 2021Eccrine poroma, a benign cutaneous neoplasm originating from the intraepidermal portion of the eccrine sweat duct, is relatively common in clinical practice....
RATIONALE
Eccrine poroma, a benign cutaneous neoplasm originating from the intraepidermal portion of the eccrine sweat duct, is relatively common in clinical practice. Nevertheless, the 1 presenting as spindle-shaped plaque is extremely rare and easily misdiagnosed as seborrheic keratosis or other dermatoses. Thus, the current study demonstrates a case of eccrine poroma with unique clinical manifestation.
PATIENTS CONCERNS
A 47-year-old man presented with a spindle-shaped plaque on his left sole for 6 years.
DIAGNOSES
Based on the clinical and histopathological manifestations, diagnosis of eccrine poroma was established.
INTERVENTIONS
Surgical excision under local anesthesia was performed.
OUTCOMES
No recurrence or malignant transformation occurred within 6-month follow-up.
LESSONS
Eccrine poroma typically presents as a dome-shaped nodule on palm or sole. But this case reminded us the lesion presenting as a spindle-shaped plaque on sole can not rule out the possibility of eccrine poroma.
Topics: Eccrine Glands; Foot; Humans; Male; Middle Aged; Poroma; Sweat Gland Neoplasms; Treatment Outcome
PubMed: 34011082
DOI: 10.1097/MD.0000000000025971 -
Dermatology Practical & Conceptual Oct 2019Eccrine poroma (EP) is a benign adnexal neoplasm that can be pigmented in 17% of cases. Four histopathological variants of EP exist. Dermoscopically, EP can mimic many...
BACKGROUND
Eccrine poroma (EP) is a benign adnexal neoplasm that can be pigmented in 17% of cases. Four histopathological variants of EP exist. Dermoscopically, EP can mimic many other skin neoplasms.
OBJECTIVES
To provide a dermoscopic-histopathological correlation of EP, classifying the clinical and dermoscopic features of EPs on the basis of their histopathological subtype, in an attempt to better characterize these entities.
PATIENTS AND METHODS
A single-center retrospective study was conducted. Clinical data were collected; patients were classified on the basis of the 4 histopathological variants of EPs. Dermoscopic images were reviewed. A dermoscopic-histopathological correlation was performed, and the results were compared with literature data.
RESULTS
Twenty-six lesions were included, both pigmented and nonpigmented. Three of the 4 histopathological variants were identified. Different dermoscopic features were observed for each distinct histopathological subtype of EP. The lesions mimicked different types of other skin neoplasms, in particular: nonpigmented hidroacanthoma simplex resembled nonmelanoma skin cancer; pigmented hidroacanthoma simplex appeared like a seborrheic keratosis or a solar lentigo; EPs sensu stricto presented as pink nodules if nonpigmented and were similar to seborrheic keratosis if pigmented; dermal duct tumors appeared as pigmented nodular lesions.
CONCLUSIONS
Distinct dermoscopic features appeared to be recurrent in each histopathological variant. Dermoscopy can provide important clues for the diagnosis of EP; the final diagnosis is allowed by histopathology. To achieve a correct diagnosis of EP, because of its clinical and dermoscopic variability, surgical excision is recommended.
PubMed: 31723462
DOI: 10.5826/dpc.0904a07 -
JAAD Case Reports Oct 2020
PubMed: 32995430
DOI: 10.1016/j.jdcr.2020.07.055 -
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 -
Actas Dermo-sifiliograficas May 2021
PubMed: 33964220
DOI: 10.1016/j.ad.2020.01.018 -
Journal of Cutaneous Pathology Jan 2021Porocarcinoma is a rare malignant adnexal tumor with predilection for the lower extremities and the head and neck region of older adults. This entity may arise de novo...
A case of YAP1 and NUTM1 rearranged porocarcinoma with corresponding immunohistochemical expression: Review of recent advances in poroma and porocarcinoma pathogenesis with potential diagnostic utility.
Porocarcinoma is a rare malignant adnexal tumor with predilection for the lower extremities and the head and neck region of older adults. This entity may arise de novo or in association with a benign poroma. Porocarcinoma's non-specific clinical appearance, immunohistochemical profile, and divergent differentiation may occasionally be diagnostically challenging. Recently, highly recurrent YAP1 and NUTM1 gene rearrangements have been described in cases of poroma and porocarcinoma. In this report, we present a case of porocarcinoma with squamous differentiation in an 81-year-old woman which harbored rearrangement of the YAP1 and NUTM1 loci and was diffusely immunoreactive for NUTM1. We discuss the recent advancements in the pathogenesis of poromas and porocarcinomas with emphasis on the clinical utility of the NUTM1 antibody.
Topics: Adaptor Proteins, Signal Transducing; Aged, 80 and over; Eccrine Porocarcinoma; Female; Gene Rearrangement; Humans; Immunohistochemistry; Neoplasm Proteins; Nuclear Proteins; Sweat Gland Neoplasms; Transcription Factors; YAP-Signaling Proteins
PubMed: 32757412
DOI: 10.1111/cup.13832 -
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 -
Journal of Cutaneous Pathology Mar 2021Acantholytic dyskeratotic acanthoma is a rare variant of epidermal acanthoma. It has a flat, plaque-like structure and is characterized microscopically by acantholysis... (Review)
Review
Acantholytic dyskeratotic acanthoma is a rare variant of epidermal acanthoma. It has a flat, plaque-like structure and is characterized microscopically by acantholysis and dyskeratosis. Eccrine syringofibroadenomatous hyperplasia is benign and likely reactive. It has recently been considered as a hyperplastic process affecting the eccrine ducts rather than the neoplasm because of its pathological heterogeneity and wide clinical associations. In this article, we present the case of 97-year-old Japanese women with a 10-mm wide, painful acantholytic dyskeratotic acanthoma accompanied by syringofibroadenomatous hyperplasia in the right femoral region. Although syringofibroadenomatous hyperplasia is known to occur as a reactive process with various dermatoses and cutaneous tumors, to date, there have been no reports of cases of acantholytic dyskeratotic acanthoma accompanying syringofibroadenomatous hyperplasia. Moreover, this case also includes the unusual finding of an increase in the mature sebocytes in the area of the syringofibroadenomatous hyperplasia.
Topics: Acantholysis; Acanthoma; Aged, 80 and over; Asian People; Cell Proliferation; Diagnosis, Differential; Epidermis; Female; Humans; Hyperplasia; Middle Aged; Pain; Poroma; Skin; Skin Neoplasms; Sweat Gland Neoplasms
PubMed: 33300158
DOI: 10.1111/cup.13933 -
Journal of Cutaneous Pathology Oct 2022Poromas, and their malignant counterparts, porocarcinomas, harbor recurrent translocations involving YAP1-MAML2, YAP1-NUTM1, and infrequently WWTR1-NUTM1; YAP1-NUTM1...
BACKGROUND
Poromas, and their malignant counterparts, porocarcinomas, harbor recurrent translocations involving YAP1-MAML2, YAP1-NUTM1, and infrequently WWTR1-NUTM1; YAP1-NUTM1 being the most common in porocarcinomas. NUT immunohistochemistry (IHC) can be used to identify NUTM1-translocated tumors. This study sought to investigate potential novel NUTM1-fusion partners among NUT IHC-positive poromas and porocarcinomas.
METHODS
Thirteen NUT IHC-positive poroid tumors (four poromas and nine porocarcinomas) were identified within a multi-institutional international cohort. Next-generation sequencing (NGS) assessed for NUTM1 fusion partners.
RESULTS
NGS detected a NUTM1 fusion in 12 of 13 cases: YAP1-NUTM1 (11/12 cases) and WWTR1-NUTM1 (1/12 cases). Two of the cases (2/12) with NUTM1 fusion were not called by the NGS algorithm but had at least one read-spanning YAP1-NUTM1 break point upon manual review. A NUTM1 fusion was not identified in one case; however, the sample had low RNA quality. The following fusion events were identified: YAP1 exon 4::NUTM1 exon 3 in six cases, YAP1 exon 6::NUTM1 exon 2 in one case, YAP1 exon 3::NUTM1 exon 3 in three cases, WWTR1 exon 3::NUTM1 exon 3 in one case, and YAP1 exon 8::NUTM1 exon 3 fusion in one case.
CONCLUSION
While no novel NUTM1 fusion partners were identified within our cohort, 12 of 13 cases had discoverable NUTM1 fusions; YAP1-NUTM1 fusion was detected in 11 cases (92%) and WWTR1-NUTM1 in 1 case (8%). These data corroborate findings from other recent investigations and further substantiate the utility of NUT IHC in diagnosing a subset of poroid neoplasms. In addition, two of our cases harbored fusions of YAP1 exon 6 to NUTM1 exon 3 and YAP1 exon 8 to NUTM1 exon 2, which have not been reported before in poroid neoplasms and indicate novel break points of YAP1.
Topics: Eccrine Porocarcinoma; Humans; Nuclear Proteins; Oncogene Proteins, Fusion; Poroma; RNA; Sweat Gland Neoplasms; Transcription Factors; YAP-Signaling Proteins
PubMed: 35665951
DOI: 10.1111/cup.14265