SOX10-Internal Tandem Duplications and PLAG1 or HMGA2 Fusions Segregate Eccrine-Type and Apocrine-Type Cutaneous Mixed Tumors

Modern Pathology, Journal Year: 2024, Volume and Issue: 37(3), P. 100430 - 100430

Published: Jan. 23, 2024

Language: Английский

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Porocarcinomas with PAK1/2/3 fusions: a series of 12 cases

Histopathology, Journal Year: 2024, Volume and Issue: 85(4), P. 566 - 578

Published: May 24, 2024

Aims Porocarcinoma is a malignant sweat gland tumour differentiated toward the upper part of duct and may arise from transformation preexisting benign poroma. In 2019, Sekine et al. demonstrated presence YAP1::MAML2 YAP1::NUTM1 fusions in most poromas porocarcinomas. Recently, our group identified PAK2‐ subset poromas. Herein we report series 12 porocarcinoma cases harbouring PAK1/2/3 fusions. Methods Results Five patients were male median age was 79 years (ranges: 59–95). Tumours located on trunk ( n = 7), thigh 3), neck 1), or groin area 1). Four developed distant metastases. Microscopically, seven harboured poroma component invasive part. Ductal formations observed all, while infundibular/horn cysts cells with vacuolated cytoplasm detected six tumours, respectively. three cases, consisted proliferation elongated cells, some which formed pseudovascular spaces, whereas others predominant solid trabecular growth pattern. Immunohistochemical staining for CEA EMA confirmed ducts. Focal androgen receptor expression specimens. Whole RNA sequencing evidenced LAMTOR1::PAK1 2), ZDHHC5::PAK1 DLG1::PAK2 , CTDSP1::PAK1 CTNND1::PAK1 SSR1::PAK3 CTNNA1::PAK2 RNF13::PAK2 ROBO1::PAK2, CD47::PAK2 . Activating mutation HRAS (G13V, 3, G13R, 1, Q61L, 2) present cases. Conclusion Our study suggests that oncogenic driver porocarcinomas lacking YAP1 rearrangement.

Language: Английский

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Gene Fusion-Driven Cutaneous Adnexal Neoplasms: An Updated Review Emphasizing Molecular Characteristics

American Journal of Dermatopathology, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 6, 2025

Abstract: Gene rearrangements or fusions have emerged as critical oncogenic drivers in various cutaneous adnexal neoplasms. This review offers a comprehensive overview of both established and recently identified molecular alterations, with specific focus on gene fusions. Key alterations discussed include YAP1 rearrangements, CRTC1::MAML2 fusions, BRD3 MYB::NFIB ETV6::NTRK3 PLAG1 alongside rarer fusion transcripts, such MEF2C::SS18 , FOXK1::GRHL1/2 GPS2::GRHL RARA::NPEPPS . The article highlights the significance these genetic changes tumor biology their potential therapeutic implications for locally advanced metastatic skin tumors. It also addresses diagnostic challenges distinctions, providing updated insights into tumors driven by

Language: Английский

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Ki67 as a proliferation marker: a study on odontogenic keratocysts and radicular cysts.

Journal of Stomatology Oral and Maxillofacial Surgery, Journal Year: 2025, Volume and Issue: unknown, P. 102313 - 102313

Published: March 1, 2025

Ki67 as a proliferation marker plays critical role in assessing cellular activity various pathological tissues, including cystic lesions. Odontogenic keratocysts (OKCs) and radicular cysts (RCs) are two common types of jaw that exhibit distinct biological behaviors, particularly their proliferative patterns. OKCs known for aggressive nature high recurrence rate, while RCs typically less lower risk. By evaluating the expression Ki67, nuclear protein linked to cell proliferation, researchers can gain valuable insights into growth potential tendencies these cysts. The study involved analyzing 32 biopsy samples from patients with RCs, using immunohistochemical techniques assess levels. These were surgically removed prepared histological examination, Ki67-positive cells quantified both basal suprabasal layers epithelium. findings revealed exhibited higher concentration layers, showed layers. This differential pattern highlights more behavior OKCs. statistical analysis confirmed significant differences between cyst types, underscoring importance this differentiating RCs. confined layer OKCs, opposed broader distribution suggests have potential, contributing increased rates.

Language: Английский

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Mapping the potential for anti-PD-1 therapy in advanced rare skin carcinomas

European Journal of Cancer, Journal Year: 2025, Volume and Issue: unknown, P. 115403 - 115403

Published: April 1, 2025

Language: Английский

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Breast cancer promotes the expression of neurotransmitter receptor related gene groups and image simulation of prognosis model

SLAS TECHNOLOGY, Journal Year: 2024, Volume and Issue: 29(5), P. 100183 - 100183

Published: Aug. 31, 2024

Breast cancer (BC), a prevalent and severe malignancy, detrimentally affects women globally. Its prognostic implications are profoundly influenced by gene expression patterns. This study retrieved 509 BCE-associated oncogenes 1,012 neurotransmitter receptor-related genes from the GSEA KEGG databases, intersecting to identify 98 relevant genes. Clinical transcriptomic data related BC were downloaded TCGA, differential identified based on an FDR value <0.05 & |log2FC| ≥ 0.585. Univariate analysis of these revealed that high NSF low HRAS, KIF17, RPS6KA1 closely associated with survival prognosis. A model constructed for four demonstrated significant relevance BC-TCGA patients (P < 0.001). Subsequently, immunofunctional oncogene-neurotransmitter cluster involvement immune cells such as T CD8, CD4 memory resting, Macrophages M2. Further indicated functions primarily concentrated in APC_co_inhibition, APC_co_stimulation, CCR, Check-point, among others. Lastly, nomogram was established, ROC curve is vital indicator assessing prognosis, 1-year, 3-year, 5-year rates 0.981, 0.897, 0.802, respectively. demonstrates calibration, clinical utility, predictive capability, promising offer effective preliminary tool diagnostics.

Language: Английский

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Aggressive Squamoid Eccrine Ductal Carcinoma of the Face: A Rare and Challenging Diagnosis—Case Report and Literature Review

Medicina, Journal Year: 2025, Volume and Issue: 61(4), P. 612 - 612

Published: March 27, 2025

Background: Squamoid eccrine ductal carcinoma (SEDC) is an exceedingly rare and aggressive cutaneous adnexal malignancy, with fewer than 100 reported cases. Its histopathologic overlap squamous cell (SCC) frequently leads to misdiagnosis, delaying appropriate management. Unlike SCC, SEDC exhibits biphasic differentiation, deep infiltration, a high rate of perineural invasion, contributing significant morbidity poor long-term outcomes. Given the absence standardized treatment protocols, managing remains challenge. Case Presentation: We report unusual case 80-year-old female presenting progressive numbness, nasal deviation, subcutaneous indurated lesion in left nasofacial region. The early neurological symptoms were atypical feature, suggesting invasion (PNI) before visible tumor progression. Initial evaluation was inconclusive, raising suspicion necessitating immunohistochemical analysis, which confirmed leading final diagnosis SEDC. patient underwent radical resection intraoperative margin assessment (Mohs micrographic surgery; MMS) followed by adjuvant radiotherapy (62 Gy/31 fractions) due high-risk features, including perivascular invasion. Despite initial disease control, local recurrence involving orbit bone occurred 20 months postoperatively, demonstrating nature despite clear surgical margins therapy. Due progression refusal further surgery, only palliative care provided. During follow-up, contracted COVID-19, complicating her clinical status demise. While COVID-19 not directly linked progression, its impact on management significant. Conclusions: This underscores diagnostic therapeutic challenges SEDC, emphasizing need for suspicion, extensive assessment, multimodal treatment. importance multidisciplinary management—particularly elderly immunocompromised patients—and surveillance risk PNI crucial.

Language: Английский

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MAML2 Gene Rearrangement Occurs in Nearly All Hidradenomas: A Reappraisal in a Series of 20 Cases

American Journal of Dermatopathology, Journal Year: 2022, Volume and Issue: 44(11), P. 806 - 811

Published: July 28, 2022

Hidradenoma is a benign cutaneous adnexal neoplasm that occurs across wide age range and at variety of anatomic sites. Its most characteristic morphologic feature the presence diverse cell types including squamoid, clear, plasmacytoid, mucinous cells. morphologically molecularly similar to mucoepidermoid carcinoma, both tumors are characterized by recurrent CRTC1-MAML2 cytogenetic translocations. Previous studies have suggested approximately half hidradenomas possess this translocation. This finding raised question whether translocation-negative might an alternate molecular basis. Here, we sought reevaluate frequency MAML2 translocation in hidradenoma series 20 cases. We find 90% show evidence translocation, suggesting genetic event nearly invariant hidradenoma. These results inform our understanding tumor may be useful challenging cases distinguish from its histologic mimics.

Language: Английский

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Recurrent PAK2 rearrangements in poroma with folliculo‐sebaceous differentiation

Histopathology, Journal Year: 2023, Volume and Issue: 83(2), P. 310 - 319

Published: May 18, 2023

Poroma is a benign adnexal neoplasm with differentiation towards the upper portion of sweat gland apparatus. In 2019, Sekine et al. demonstrated recurrent YAP1::MAML2 and YAP1::NUTM1 fusion in poroma porocarcinoma. Follicular, sebaceous and/or apocrine has been reported rare cases whether these tumours constitute variant or represent distinctive tumour matter to debate. Herein we describe clinical, immunophenotypic, molecular features 13 folliculo-sebaceous differentiation.Most were located on head neck region (n = 7), thigh 3). All presented adults slight male predilection. The median size was 10 mm (range: 4-25). Microscopically, lesions displayed nodules monotonous basophilic cells associated second population larger eosinophilic cells. all cases, ducts scattered sebocytes identified. Infundibular cysts present cases. two high mitotic activity noted, three cytologic atypia areas necrosis Whole transcriptome RNA sequencing in-frame transcripts involving RNF13::PAK2 4), EPHB3::PAK2 2), DLG1::PAK2 LRIG1::PAK2 1), ATP1B3::PAK2 TM9SF4::PAK2 CTNNA1::PAK2 1). Moreover, fluorescence situ hybridisation (FISH) analysis revealed PAK2 rearrangement an additional case. No detected.Recurrent fusions gene analysed this study confirms that represents separate entity distinct from rearranged poromas.

Language: Английский

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Ancillary immunohistochemical and molecular testing in the classification of cutaneous sweat gland/duct neoplasms: a validation study with emphasis on histomorphologic correlation and pathological diagnosis

Human Pathology, Journal Year: 2024, Volume and Issue: 150, P. 1 - 8

Published: June 12, 2024

Language: Английский

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