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Journal of Cutaneous Pathology Nov 2023Transcriptional repressor GATA binding 1 (TRPS1) is a transcription factor recently shown to play a role in the development of breast and liver cancer. Here, we evaluate...
BACKGROUND
Transcriptional repressor GATA binding 1 (TRPS1) is a transcription factor recently shown to play a role in the development of breast and liver cancer. Here, we evaluate TRPS1 immunoexpression in normal skin tissues and various cutaneous tumors.
METHODS
TRPS1 immunohistochemistry was performed in 109 cases of primary cutaneous tumors and 19 cases of metastatic carcinomas. TRPS1 expression was also evaluated in the normal skin tissues.
RESULTS
The normal epidermis was TRPS1-. In contrast, the eccrine apparatus, epithelial compartment of the hair follicles, hair papilla, sebaceous glands, and anogenital mammary-like glands were TRPS1+. In primary cutaneous tumors, TRPS1 positivity varied in poroma (2/3), nodular hidradenoma (4/5), spiradenoma (4/4), cutaneous mixed tumor (5/5), trichilemmal cyst (7/8), proliferating trichilemmal tumor (1/3), pilomatricoma (9/9), sebaceoma (2/5), extramammary Paget disease (13/13), sebaceous carcinoma (2/2), actinic keratosis (3/10), Bowen disease (7/12), and squamous cell carcinoma (1/5) cases. All cases of seborrheic keratosis, basal cell carcinoma, Merkel cell carcinoma, and malignant melanoma were TRPS1-. All metastatic breast carcinoma cases (8/8) were highly positive for TRPS1, while all but one of the other metastatic tumor cases were TRPS1-.
CONCLUSIONS
TRPS1 immunoexpression was observed in several skin appendages and cutaneous tumors.
PubMed: 37649299
DOI: 10.1111/cup.14523 -
Actas Dermo-sifiliograficas Jun 2021
PubMed: 34147678
DOI: 10.1016/j.adengl.2021.06.004 -
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 -
The American Journal of Dermatopathology Jan 2022Histopathologically both hidroacanthoma simplex (HS) and clonal seborrheic keratosis (CSK) are characterized by intraepidermal nests of tumor cells. Although they show... (Comparative Study)
Comparative Study
Histopathologically both hidroacanthoma simplex (HS) and clonal seborrheic keratosis (CSK) are characterized by intraepidermal nests of tumor cells. Although they show subtle microscopic differences, they can be difficult to accurately differentiate. Previous immunohistochemical studies have been inconclusive. We conducted an immunohistochemical study with GATA3 and p63 on cases of HS and CSK tentatively identified by their microscopic appearances and cases of eccrine poroma and seborrheic keratosis as their respective controls. The clinical, histopathological, and dermoscopic findings of these cases were also reviewed. All cases of HS and poroma were negative for GATA3, whereas all cases of CSK and seborrheic keratosis were positive for GATA3. HS, CSK, and their controls were all positive for p63. Microscopic, clinical, and dermoscopic differences were also found between HS and CSK. Our study demonstrated that GATA3 is useful for differentiating HS from CSK. Our initial microscopic observations also proved to be reliable, but immunostaining with GATA3 is helpful for confirming the diagnosis or establishing the diagnosis of uncertain cases. Awareness of the clinical and dermoscopic features of these 2 entities could also avoid misdiagnosis based solely on pathological observation.
Topics: Acanthoma; Adult; Aged; Female; GATA3 Transcription Factor; Humans; Keratosis, Seborrheic; Male; Middle Aged; Skin Neoplasms; Sweat Gland Neoplasms; Transcription Factors; Tumor Suppressor Proteins
PubMed: 34132661
DOI: 10.1097/DAD.0000000000001998 -
Journal of Cutaneous Pathology Mar 2021Porocarcinoma is the malignant counterpart of poroma, a benign tumor derived from the eccrine or apocrine units. In contrast to poroma, porocarcinoma is rare and its...
BACKGROUND
Porocarcinoma is the malignant counterpart of poroma, a benign tumor derived from the eccrine or apocrine units. In contrast to poroma, porocarcinoma is rare and its diagnosis may be challenging. Recent work has identified YAP1-associated gene fusions in most poromas, and a subset of porocarcinomas. These included YAP1-MAML2 and YAP1-NUTM1, the latter being enriched in porocarcinomas over poromas.
METHODS
We studied YAP1 C-terminus and NUT immunohistochemistry in a cohort of 12 porocarcinomas, 10 poromas, 10 squamous cell carcinomas, and 6 hidradenocarcinomas.
RESULTS
Seven of 12 (58%) porocarcinomas showed loss of YAP1 C-terminus expression, consistent with a YAP1 fusion. Of these seven, five showed NUT positivity, implying the presence of the YAP1-NUTM1 fusion. One of 12 (8%) cases showed NUT positivity, but retention of YAP1 C-terminus expression, consistent with a non-YAP1 NUT-associated fusion. Eight of 10 (80%) poromas showed loss of YAP1 C-terminus expression and negative NUT staining, consistent with non-NUT YAP1 fusions. All squamous cell carcinomas and hidradenocarcinomas retained YAP1 C-terminus expression and were negative for NUT.
CONCLUSION
YAP1 C-terminus and NUT immunohistochemistry may be helpful in the diagnosis of porocarcinoma, with the combination of YAP1 C-terminus loss and NUT positivity being particularly informative.
Topics: Adaptor Proteins, Signal Transducing; Carcinoma, Squamous Cell; Eccrine Porocarcinoma; Humans; Immunohistochemistry; Neoplasm Metastasis; Neoplasm Proteins; Nuclear Proteins; Retrospective Studies; Sweat Gland Neoplasms; Trans-Activators; Transcription Factors; YAP-Signaling Proteins
PubMed: 33222286
DOI: 10.1111/cup.13924 -
Journal of Cutaneous Pathology Jun 2022Cysts of the skin are observed frequently and their diagnoses are generally straightforward. However, atypical cystic lesions for which differentiation is indistinct...
BACKGROUND
Cysts of the skin are observed frequently and their diagnoses are generally straightforward. However, atypical cystic lesions for which differentiation is indistinct have been noted.
METHODS
We examined five cases of trichilemmal cyst with proteinaceous material (TCPM), which required differentiation from sweat duct/gland tumors. We investigated the histopathological findings of TCPMs and evaluated the immunohistochemical expression of cytokeratin (CK) 10, CK13, CK17, CK19, CD8, and CD117. Immunohistochemical analysis was performed on the 5 TCPMs, 10 trichilemmal cysts (TCs), 5 clear-cell hidradenomas, 5 poroid hidradenomas, and cutaneous normal adnexa.
RESULTS
Apoptotic cells were present in the cyst wall with a small amount of keratin or calcification in the cavity of TCPMs. The TCPMs and TCs were negative for CK19 and CD117, on the other hand clear-cell hidradenoma and poroid hidradenoma were positive for CK19 and CD117. The restricted positivity for CK10 was detected in the suprabasal layers of the cyst walls of TCPMs and TCs. The immunostaining patterns of TCPMs and TCs were similar to those of normal follicular isthmus.
CONCLUSIONS
The histopathological findings with characteristics of TCs and a panel of immunohistochemical antibodies including CD117, CK19, and CK10 contributed to a correct diagnosis of TCPM.
Topics: Acrospiroma; Adenoma, Sweat Gland; Epidermal Cyst; Humans; Poroma; Sweat Gland Neoplasms
PubMed: 35166386
DOI: 10.1111/cup.14214 -
International Journal of Surgery Case... Sep 2022Porocarcinoma is a rare malignancy of dermal sweat glands commonly diagnosed in the seventh decade of life. It frequently evolves from a de novo benign poroma. These...
INTRODUCTION
Porocarcinoma is a rare malignancy of dermal sweat glands commonly diagnosed in the seventh decade of life. It frequently evolves from a de novo benign poroma. These tumors present as a mass/nodule, ulcer, papule, or wart. Difficult to differentiate from other cutaneous lesions. Intraperitoneal invasion is scantly reported in the literature.
CASE PRESENTATION
The authors present a case of a fifty-year-old female patient with a rare cancer of the dermal sweat glands in an unusual location and infiltration into the abdominal cavity, leading to intraperitoneal seedlings.
DISCUSSION
Tumors of the sweat gland are rare and difficult to diagnose, often misdiagnosed as granuloma, squamous cell tumors, or warts. Surgical excision and Mohs micrographic surgery are mainstay treatment modalities in the early stages. Our patient was managed elsewhere with a diagnosis of granuloma. She was referred with a recurrence of the abdominal lesion. An appropriate diagnosis of porocarcinoma was made while she had an extensive intraperitoneal invasion and seedlings. We postulate that the previous abdominal incision had disseminated porocarcinoma cells into the abdominal cavity, causing extensive intraperitoneal dissemination.
CONCLUSION
Because it is rare and difficult to diagnose, there is a considerable knowledge gap in the early accurate diagnosis and appropriate management of porocarcinoma. This causes a delay in establishing a diagnosis and profoundly impacts treatment outcomes.
PubMed: 36027829
DOI: 10.1016/j.ijscr.2022.107529 -
The American Journal of Surgical... Sep 2021YAP1-NUTM1 fusion transcripts have been recently reported in poroma and porocarcinoma. NUTM1 translocation can be screened by nuclear protein in testis (NUT)...
YAP1-NUTM1 fusion transcripts have been recently reported in poroma and porocarcinoma. NUTM1 translocation can be screened by nuclear protein in testis (NUT) immunohistochemistry in various malignancies, but its diagnostic performance has not been thoroughly validated on a large cohort of cutaneous epithelial neoplasms. We have evaluated NUT immunohistochemical expression in a large cohort encompassing 835 cases of various cutaneous epidermal or adnexal epithelial neoplasms. NUT expression was specific to eccrine poromas and porocarcinoma, with 32% of cases showing NUT expression. All other cutaneous tumors tested lacked NUT expression, including mimickers such as seborrheic keratosis, Bowen disease, basal cell carcinoma, squamous cell carcinoma, Merkel cell carcinoma, nodular hidradenoma, and all other adnexal tumors tested. Remarkably, NUT expression was more frequent in a distinct morphologic subgroup. Indeed, 93% of poroid hidradenoma (dermal/subcutaneous nodular poroma, 13/14) and 80% of poroid hidradenocarcinoma cases (malignant poroid hidradenoma, 4/5) showed NUT expression, in contrast to 17% and 11% of classic poroma (4/23) and porocarcinoma cases (4/35), respectively. RNA sequencing of 12 NUT-positive neoplasms further confirmed the presence of a YAP1-NUTM1 fusion transcript in all cases, and also an EMC7-NUTM1 gene fusion in a single case. In the setting of a cutaneous adnexal neoplasm, nuclear expression of NUT accurately and specifically diagnosed a specific subgroup of benign and malignant poroid tumors, all associated with a NUTM1 fusion, which frequently harbored a poroid hidradenoma morphology.
Topics: Adaptor Proteins, Signal Transducing; Biomarkers, Tumor; Eccrine Porocarcinoma; Humans; Immunohistochemistry; Neoplasm Proteins; Nuclear Proteins; Oncogene Proteins, Fusion; Poroma; Sweat Gland Neoplasms; Transcription Factors; YAP-Signaling Proteins
PubMed: 33739783
DOI: 10.1097/PAS.0000000000001693 -
Dermatology Practical & Conceptual May 2022
PubMed: 35646431
DOI: 10.5826/dpc.1202a87 -
Giornale Italiano Di Dermatologia E... Aug 2020Eccrine porocarcinoma is a rare skin cancer that originates from the acrosyringium of eccrine sweat glands. From the clinical point of view the differential diagnosis... (Review)
Review
Eccrine porocarcinoma is a rare skin cancer that originates from the acrosyringium of eccrine sweat glands. From the clinical point of view the differential diagnosis with other skin cancers such as basal cell carcinoma and squamous cell carcinoma it is often impossible, only the histopathologic features can lead to the definitive diagnosis. Eccrine porocarcinoma can arise from a previous poroma or de novo, it may recur after surgical excision and cause lymph node and visceral metastasis. There are no international guidelines for treatment or follow-up of patients. The aim of this work was to present a rare case of eccrine porocarcinoma of the scalp successfully treated in our clinic and to extrapolate from the international literature the main clinical and histopathological features of eccrine porocarcinoma and the various experiences regarding the types of treatment.
Topics: Aged, 80 and over; Eccrine Porocarcinoma; Humans; Male; Scalp; Sweat Gland Neoplasms
PubMed: 33050682
DOI: 10.23736/S0392-0488.17.05182-3