Publications by authors named "Carlos A 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.

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  • 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.
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  • 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.*
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  • - 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.
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  • 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.
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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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  • 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.
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  • - 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.
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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.

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  • 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.
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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.

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Deep 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.

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Background: 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.

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  • 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.
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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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Background: Trichorhinophalangeal syndrome type 1 (TPRS1) expression has been found to be highly sensitive and specific for breast carcinomas. The frequency of TRPS1 expression in cutaneous neoplasms such as mammary Paget disease (MPD) and extramammary PD (EMPD) is currently unknown. We assessed the utility of TRPS1 immunohistochemistry (IHC) in the evaluation of MPD, EMPD, and their histopathologic mimics, squamous cell carcinoma in situ (SCCIS) and melanoma in situ (MIS).

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Context.—: Distinction between Merkel cell carcinoma (MCC) and pulmonary small cell carcinoma (PSmCC) can be challenging, even with the aid of immunohistochemistry (IHC) analysis of CK20 and TTF1, as these tumors occasionally lack classic immunophenotypes (CK20+/TTF1- in MCC and CK20-/TTF1+ in PSmCC).

Objective.

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To date, over 60% of the world's population has received at least 1 dose of coronavirus disease 2019 (COVID-19) vaccination, with over 12 billion doses administered globally. Commonly reported adverse effects of COVID-19 vaccination include fever, headache, myalgia, and injection site reactions. The spectrum of documented cutaneous reactions after COVID-19 vaccination is broad; however, pityriasis rubra pilaris (PRP) or PRP-like eruption secondary to COVID-19 vaccine is exceedingly rare, with only 17 cases previously reported to date in the English literature.

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Background: Treatment options for patients with melanoma brain metastasis (MBM) have changed significantly in the last decade. Few studies have evaluated changes in outcomes and factors associated with survival in MBM patients over time. The aim of this study is to evaluate changes in clinical features and overall survival (OS) for MBM patients.

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Merkel cell carcinoma (MCC) is an aggressive cutaneous neuroendocrine carcinoma that may occasionally present divergent histopathologic features. We present two cases of MCC demonstrating ductal differentiation, one on the lower lip of an 81-year-old man and another on the right forearm of a 67-year-old man. The histopathologic features included TTF1-negative, infiltrative, high-grade basaloid tumor with paranuclear punctate positivity for cytokeratin (CK) 20 and synaptophysin.

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We report three melanoma cases in which BRAF V600E immunohistochemistry (IHC) was valuable for diagnosis. Patient 1: In a patient with a history of primary melanoma on the chest and metastatic melanoma to right breast after undergoing multiple local and systemic therapies, a lung metastasis exhibited chondroid differentiation, aberrant myofibroblastic marker expression, and rare pancytokeratin positivity, without melanocytic marker expression. Patient 2: After targeted and immunotherapy for primary melanoma on the scalp as well as regional and distant metastatic melanoma, an omental metastasis showed CDX2-positive glandular structures that were negative for melanocytic markers.

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Background: Since their first approval 25 years ago, monoclonal antibodies (mAbs) have become important targeted cancer therapeutics. However, dermatologic toxicities associated with non-immune checkpoint inhibitor (non-ICI) mAbs may complicate the course of cancer treatment. Data on the incidence and types of these reactions are limited.

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Epidermodysplasia verruciformis (EDV) is a rare genodermatosis that predisposes individuals to persistent infection with β-human papillomavirus (HPV) genotypes. The term EDV acanthoma may be applied to lesions with incidental findings of EDV-defining histopathological features without clinical signs of EDV. We report a case of HPV-14- and -21-positive EDV acanthoma arising in association with condyloma in a female patient with a history of low-grade squamous intraepithelial lesion of the cervix positive for high-risk HPV (non-16/18), chronic kidney disease, and systemic lupus erythematosus.

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  • There is limited knowledge about subcutaneous panniculitis-like T-cell lymphoma (SPTCL) due to its rarity and diagnostic challenges, prompting a need for better understanding through multi-institutional research.
  • The study involved a retrospective review of 95 patients diagnosed with SPTCL or adipotropic lymphoproliferative disorder (ALPD) across six US academic centers, focusing on classification and clinical outcomes.
  • Results showed that while both SPTCL and ALPD had similar presentations, SPTCL was linked to hemophagocytic lymphohistiocytosis (HLH), and about 67% of SPTCL patients achieved complete remission; however, relapses were frequent.
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