Publications by authors named "Carlos Torres-Cabala"
Background: Digital papillary adenocarcinoma (DPAC) is a rare but aggressive cutaneous malignant sweat gland neoplasm that occurs on acral sites. Despite its clinical significance, the cellular and genetic characteristics of DPAC remain incompletely understood.
Methods: We conducted a comprehensive genomic and transcriptomic analysis of DPAC (n = 14) using targeted next-generation DNA and RNA sequencing, along with gene expression profiling employing the Nanostring Technologies nCounter IO 360 Panel.
Article Synopsis
- Immune checkpoint inhibitors have shown to improve survival in advanced melanoma, but the role of PD-L1 expression as a predictor of patient response is still uncertain.
- A study involving 36 biopsies of untreated metastatic melanoma patients found significant discrepancies in PD-L1 expression categorization when re-evaluated using a dual staining technique with SOX10, revealing that many cases were downgraded in their PD-L1 scores.
- This dual immunohistochemistry approach may enhance the accuracy of PD-L1 assessment, helping to make better clinical decisions about whether to use single or combination immunotherapy, ultimately affecting patient outcomes and quality of life.
Article Synopsis
- PCSM-LPD is a rare skin-related T-cell disorder, and its treatment often includes various strategies, notably radiotherapy.* -
- A study of 46 patients revealed that all achieved complete responses, with 94% of those receiving focused radiotherapy responding well, while ultra-low-dose rates also showed high effectiveness.* -
- Overall, both observation and treatments such as steroids and radiotherapy yield excellent results for PCSM-LPD, with low toxicity reported particularly with ultra-low-dose radiation.*
Article Synopsis
- - Spitz and Spitzoid lesions are complex skin growths that challenge dermatopathology due to their varying nature, ranging from benign to malignant forms, including rare intermediate types.
- - Recent advancements in understanding these lesions have come from identifying specific gene translocations, which help classify the different types more effectively.
- - The study utilized gene expression profiling to uncover distinct genetic clusters among these lesions, revealing patterns that could aid in their diagnosis and classification.
Article Synopsis
- A 77-year-old man with a history of metastatic melanoma and uveal melanoma had a firm blue nodule on his back during a dermatologic exam.
- The nodule, excised for analysis, revealed atypical cells indicative of a plexiform neoplasm with central necrosis, suggesting a malignancy.
- Molecular studies showed mutations distinct from his previous melanoma, indicating that the nodule was a metastasis from uveal melanoma rather than a recurrence of his prior cutaneous melanoma, highlighting the need for combining clinical and molecular data for accurate diagnosis.
Article Synopsis
- Acral lentiginous melanoma (ALM) is a rare but aggressive form of skin cancer that mainly affects palms, soles, and nails, with higher occurrences in dark-skinned populations.
- A study assessed the expression of key proteins linked to tumor growth and treatment resistance (BCL2, MCL1, BIM, and BRAF V600E) in melanoma samples from White and Hispanic patients, noting no significant differences in protein expression between ALM and non-ALM tumors.
- The results suggest that since both ALM and non-ALM tumors frequently express these proteins, patients might benefit from new therapies aimed at inducing apoptosis (programmed cell death).
A 92-year-old woman presented with a large bulbar conjunctival mass in the OD. She also had a palpable parotid mass which on fine needle aspiration biopsy confirmed to be metastatic squamous cell carcinoma. The conjunctival mass was biopsied to confirm the diagnosis of squamous cell carcinoma with positive programmed cell death ligand 1 expression and a high tumor mutation burden.
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- Lymphomatoid papulosis (LyP) can present in various ways and may be misdiagnosed as aggressive skin lymphomas, especially those involving γδ T-cells.
- A study analyzed 26 cases of LyP with γδ T-cell expression, noting that most patients were treated with topical steroids or had no treatment.
- The findings highlighted significant differences in how LyP presents, underlining the importance of recognizing specific clinical features and markers to avoid misdiagnosis.
Yes-associated protein (YAP), an effector molecule of the Hippo signaling pathway, is expressed at high levels in cutaneous melanoma. However, the role of YAP in melanoma progression according to cellular localization is poorly understood. Tissues from 140 patients with invasive melanoma were evaluated by immunohistochemistry.
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- Granulomatous Mycosis Fungoides (GMF) is a rare and severe type of mycosis fungoides that features a granulomatous infiltrate and generally has worse outcomes than typical mycosis fungoides.
- The study investigated immune responses in GMF and Mycosis Fungoides with Large Cell Transformation (MFLCT) by examining various markers in skin biopsies from 49 patients.
- Findings indicated that patients with GMF showed distinct immune profiles, including increased Tbet, RORγT, and PD-L1, while certain factors like low levels of RORγT and advanced disease stage correlated with poorer survival rates.
Article Synopsis
- - ALK-fused Spitz melanocytic neoplasms are a unique type of skin tumor with distinct growth patterns and histological characteristics, often appearing as raised, polyp-like masses.
- - Various gene fusions, particularly with ALK involving partners like TPM3 and DCTN1, are identified in these tumors, while MLPH is a rare but significant fusion partner influencing melanin transport.
- - This report adds two new cases, including one of Spitz melanoma, enhancing the existing literature on ALK-fused Spitz melanocytic neoplasms and their clinical and molecular features.
Background: Although trichorhinophalangeal syndrome type 1 (TRPS1) was initially thought to be highly sensitive and specific for carcinomas and mesenchymal tumors of mammary origin, more recent data suggest its expression is not limited to breast neoplasms but also can be seen in other cutaneous neoplasms, such as extramammary Paget disease and squamous cell carcinoma (SCC) in situ.
Methods: Two-hundred cases of non-melanocytic cutaneous neoplasm, including basal cell carcinomas (BCCs) (n = 41), SCCs (n = 35), Merkel cell carcinomas (MCCs) (n = 25), and adnexal neoplasms (n = 99), were tested for TRPS1 expression using a monoclonal anti- TRPS1 rabbit anti-human antibody.
Results: TRPS1 expression was present in almost all cases of SCC (94%), with a median H-score of 200, while it was either absent or only focally present in most BCCs (90%), with a median H-score of 5.
Article Synopsis
- Enfortumab vedotin (EV) is a targeted therapy for urothelial carcinoma, and this study evaluates its effectiveness for treating certain skin tumors by assessing Nectin-4 expression.
- Researchers analyzed various skin adnexal carcinomas and benign tumors through immunohistochemical staining, finding that malignant tumors had significantly higher Nectin-4 expression than benign ones.
- The study concludes that since many cutaneous adnexal carcinomas, particularly sebaceous carcinomas, exhibit high Nectin-4 levels, EV could be a viable treatment option for these cancers.
Extramammary Paget disease (EMPD) predominantly manifests de novo as primary EMPD, with less than 30 % of cases associated with underlying internal malignancy (secondary EMPD). Differentiating primary from secondary EMPDs based solely on histopathology poses challenges, often necessitating supplementary screening, such as endoscopy or imaging studies, to definitively exclude underlying carcinomas like colonic adenocarcinoma. Recently, TRPS1 immunohistochemistry, initially identified as a sensitive and specific marker for carcinomas and mesenchymal tumors of mammary origin, has been proposed for EMPD.
View Article and Find Full Text PDFBackground: Changes in immunophenotype in mycosis fungoides (MF) are rarely reported, making this phenomenon a diagnostic challenge with unclear significance for the disease's biological behavior. This study examines a large series of MF patients who exhibited a phenotype switch (PS) and analyzes their clinical and histopathologic characteristics.
Design: Institutional files were searched for MF cases exhibiting PS between 2010 and 2020.
Editorial for Special Issue "Molecular Mechanisms and Signaling Pathways in Melanoma".
Cancers (Basel)
September 2023
Melanoma represents the leading cause of death from cutaneous malignancy [...
View Article and Find Full Text PDFDeep penetrating nevi (DPN), particularly those showing combined features, or combined deep penetrating nevi (CDPN), may show histopathological resemblance to blue nevus (BN) and melanoma. Preferentially Expressed Antigen in MElanoma (PRAME) is a marker that helps distinguish melanoma from benign melanocytic lesions. Lymphoid enhancer-binding factor 1 (LEF1) has been proposed to be used in conjunction with β-catenin for diagnosis of DPN.
View Article and Find Full Text PDFMelanoma is the leading cause of death from cutaneous malignancy. While targeted therapy and immunotherapy with checkpoint inhibitors have significantly decreased the mortality rate of this disease, advanced melanoma remains a therapeutic challenge. Here, we confirmed that interferon-gamma (IFN-γ)-induced PD-L1 expression in melanoma cell lines.
View Article and Find Full Text PDFBackground: TERT gene amplification (TGA) is a mechanism of telomerase reverse transcriptase (TERT) upregulation frequently utilized by acral melanomas (AMs). Currently, the utility of TERT immunohistochemistry (IHC) to predict TGA status in AMs is poorly documented.
Methods: AMs (26 primary and 3 metastatic) and non-acral cutaneous melanomas (6 primary) were subjected to immunohistochemical analysis using anti-TERT antibody to demonstrate protein expression and fluorescence in situ hybridization (FISH) to assess genomic copy number alteration.
Gene expression profiling and multiplex immunofluorescence analysis of bullous pemphigoid immune-related adverse event reveal upregulation of toll-like receptor 4/complement-induced innate immune response and increased density of T 1 T-cells.
J Cutan Pathol
July 2023
Article Synopsis
- Immune checkpoint inhibitor therapies can lead to skin-related immune issues, specifically a condition known as bullous pemphigoid (BP), but the exact causes of these reactions are not well understood.
- A study compared biopsy samples from patients with BP related to immune therapy and those with regular BP, analyzing their gene expression and immune cell presence.
- Findings showed that BP-irAE had increased levels of specific immune response genes and a higher presence of certain T-cells, while showing fewer regulatory T-cells, suggesting a distinct immune response mechanism in these cases.
Lymphomatoid papulosis (LyP) with DUSP22-IRF4 rearrangement is a rare, recently described variant of LyP histopathologically characterized by a biphasic growth pattern, with epidermotropic small-to-medium-sized atypical T-cells and dermal large and transformed T-cells diffusely expressing CD30. LyP with DUSP22-IRF4 rearrangement can mimic other cutaneous lymphoproliferative disorders, particularly primary cutaneous anaplastic large cell lymphoma (PCALCL) or transformed mycosis fungoides (MF). Unlike PCALCL or transformed MF, LyP with DUSP22-IRF4 rearrangement shows an indolent clinical behavior, with frequent spontaneous regression of untreated lesions.
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