Victor Prieto

University of Texas MD Anderson Cancer Center | MD Anderson · Department of Pathology

This case series describes a constellation of novel adverse reactions in 3 of 9 patients with uveal melanoma receiving treatment targeting activity of the Brahma-associated factor chromatin remodeling complex.

ALK-fused Spitz melanocytic neoplasms are a distinct subgroup of melanocytic lesions exhibiting unique histopathologic characteristics. These lesions often manifest as exophytic or polypoid tumors, characterized by fusiform-to-epithelioid melanocytes arranged in a nested, fascicular, or plexiform growth pattern. Several fusion partners of the ALK g...

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 squ...

Background Enfortumab vedotin (EV) is an antibody‐drug conjugate directed against Nectin‐4 that is used to treat urothelial carcinoma. Nectin‐4 is inherently expressed in the skin and adnexal structures. Since therapeutic options for cutaneous adnexal carcinomas are limited, we sought to evaluate Nectin‐4 expression in adnexal carcinomas and benign...

Background Cutaneous invasive fungal infections CIFIs (primary or secondary to hematogenous seeding) are frequent and often fatal in immunocompromised cancer patients (pts). There is a paucity of studies on the prognostic significance and concordance of histopathologic features with cultures. Methods We reviewed all pts with histologically diagnos...

Context.— In the United States, review of digital whole slide images (WSIs) using specific systems is approved for primary diagnosis but has not been implemented for intraoperative consultation. Objective.— To evaluate the safety of review of WSIs and compare the efficiency of review of WSIs and glass slides (GSs) for intraoperative consultation....

Context.—: To provide high-quality, safe training during the COVID-19 pandemic, our anatomic pathology fellowship program implemented a hybrid virtual/in-person training model with supplemental digital material. Objective.—: To evaluate the impact of this model. Design.—: We examined Accreditation Council for Graduate Medical Education survey...

Aims: NUTM1-rearranged sarcoma is an emerging entity that differs from NUT carcinoma at the molecular level, with most of the former tumours harbouring fusions involving genes in the MYC-associated factor X dimerization (MAD) transcription family (MXD1, MXD4, MXI1 [or MXD2], and MGA). MGA::NUTM1 is one of the most recently described novel gene fus...

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 facto...

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...

Background: Immune checkpoint inhibitor (ICI)-based cancer therapies cause a variety of cutaneous immune-related adverse events (irAEs) including immunobullous skin eruptions like bullous pemphigoid (BP). However, little is known about the underlying immunopathogenic drivers of these reactions, and understanding the unique gene expression profile...

Immune checkpoint inhibitors (ICI) have demonstrated limited success in patients with metastatic uveal melanoma (MUM) with liver involvement due to an immunosuppressive tumor microenvironment (TME) driven in part by myeloid-derived suppressor cells (MDSCs). Toll-like receptor-9 agonists (TLR-9A) have improved ICI response rates in cutaneous melanom...

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 cut...

Background: Whether pembrolizumab given both before surgery (neoadjuvant therapy) and after surgery (adjuvant therapy), as compared with pembrolizumab given as adjuvant therapy alone, would increase event-free survival among patients with resectable stage III or IV melanoma is unknown. Methods: In a phase 2 trial, we randomly assigned patients w...

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 like mammary Paget disease (MPD) and extramammary PD (EMPD) is currently unknown. We assessed the utility of TRPS1 immunohistochemistry (IHC) in the...

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.—: To evaluate the diagnostic util...

Dermatofibrosarcoma protuberans (DFSP) is a dermal malignant mesenchymal tumor. Most variants are associated with a high risk of local recurrence and a low risk of metastasis. The classic histomorphology of this tumor is made up of uniform, spindle-shaped cells, arranged in a storiform pattern. Tumor cells characteristically infiltrate the underlyi...

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...

Merkel cell carcinoma (MCC) is an aggressive cutaneous neuroendocrine carcinoma that may occasionally demonstrate 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 include...

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 myofibroblas...

Chordomas are rare, locally aggressive tumors of notochordal origin usually arising in the spine or base of the skull. Skin involvement is rare and typically occurs via direct extension of the primary tumor to the skin. Although there are increasing reports of the skin being involved as a distant metastatic site in patients with chordoma, this rema...

Relatlimab and nivolumab combination immunotherapy improves progression-free survival over nivolumab monotherapy in patients with unresectable advanced melanoma ¹ . We investigated this regimen in patients with resectable clinical stage III or oligometastatic stage IV melanoma (NCT02519322). Patients received two neoadjuvant doses (nivolumab 480 mg...

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 mAbs may complicate the course of cancer treatment. Data on the incidence and types of these reactions are limited. Methods: A compr...

Trichorhinophalangeal syndrome type 1 (TRPS1) immunohistochemistry has been gaining popularity in recent years in the field of surgical pathology for its utility as a highly sensitive and specific marker for breast carcinomas, including those with triple-negative phenotype. More recent data suggest TRPS1 may also prove its utility in the diagnosis...

Background: The immunohistochemical (IHC) marker PReferentially expressed Antigen in MElanoma (PRAME) has shown promise in the diagnosis of melanocytic lesions. A few studies have investigated PRAME IHC expression in acral melanomas, but PRAME expression in subungual melanomas is largely unknown. We evaluated the utility of PRAME IHC expression in...

Merkel cell carcinoma (MCC) is an aggressive, highly metastatic, cutaneous neuroendocrine malignancy with poor prognosis. Here we describe a MCC excision specimen with a rare case of tumor‐associated amyloid deposition in the absence of residual tumor cells. A 72‐year‐old man presented with a lesion of five‐ to six‐ months’ duration on his left elb...

Background: Staging systems for cutaneous squamous cell carcinoma (cSCC) produce inconsistent risk stratification. Objective: The aim of this study was to identify further prognostic parameters for better stratification. Methods: We retrospectively analysed the prognostic significance of clinicopathologic parameters of 230 patients who underwe...

Epidermodysplasia verruciformis (EDV) is a rare genodermatosis that predisposes affected individuals to persistent infection with certain types of human papillomavirus (HPV), particularly those that belong to the genus beta‐HPV, including HPV‐5 and ‐8, which carry high oncogenic potential. There are three main HPV‐related viral cytopathic changes i...

When a sarcomatous neoplasm is identified in the breast, distinguishing metaplastic carcinoma, malignant phyllodes tumor (MPT) and primary sarcoma is a diagnostic challenge, especially on small biopsies, as all these tumors may have overlapping morphological features, thoroughly grossing with histological examination and immunohistochemical stainin...

Background: Advances in molecular biology and genetics have contributed to breakthrough treatments directed at specific pathways associated with the development of cancer. Small-molecule inhibitors (Nibs) aimed at a variety of cellular pathways have been efficacious; however, they are associated with significant dermatologic toxicities. Methods:...

Cutaneous lymphoid hyperplasia (CLH) is a benign reactive process with T-cell or B-cell lymphocytic infiltration in the skin, which can simulate cutaneous lymphomas both clinically and histologically. Various antigenic stimuli have been implicated in the development of CLH, including tick bites. Finding histologic evidence of such triggering factor...

Background Appropriate use criteria (AUC) provide patient-centered physician guidance in test selection. An initial set of AUC were reported by the American Society of Dermatopathology (ASDP) in 2018. AUC reflect evidence collected at single timepoints and may be affected by evolving evidence and experience. Objective Update and expand AUC for sel...

Mycosis fungoides with large cell transformation (MFLCT) can be difficult to distinguish from primary cutaneous CD30+ T cell lymphoproliferative disorders (PC CD30+ LPD), especially primary cutaneous anaplastic large cell lymphoma (PC-ALCL). This diagnostic distinction is critical for appropriate patient management. GATA3 has been proposed to be us...

Digital pathology has become an integral part of pathology education in recent years, particularly during the COVID-19 pandemic, for its potential utility as a teaching tool that augments the traditional 1-to-1 sign-out experience. Herein, we evaluate the utility of whole slide imaging (WSI) in reducing diagnostic errors in pigmented cutaneous lesi...

Cutaneous metastasis may be the initial sign of internal malignancy but more often represents a late manifestation of widely disseminated disease. Breast carcinoma is the most common malignancy to metastasize to the skin. Although several studies have detailed the histopathologic patterns of cutaneous metastasis from internal malignancies, very lit...

We describe a case of a melanocytic proliferation arising in a giant congenital melanocytic nevus (CMN) and outline the potential utility of an immunohistochemical study with PReferentially expressed Antigen in MElanoma (PRAME) in distinguishing benign proliferative nodules (PN) from melanoma in this context. A 15-day-old girl presented with a fibr...

Localized cutaneous argyria is a rare cutaneous disorder that has been associated with occupational exposure, dental procedures, topical agents, acupuncture, earrings, and nasal piercings. In this paper, we review the current literature on localized cutaneous argyria, highlight its clinical and histologic diagnostic features, and then discuss the c...

An accurate diagnosis of melanocytic lesions requires a thorough histopathological evaluation accompanied by appropriate correlation with clinical examination findings. Although most melanocytic lesions can readily be classified as one of the defined diagnostic entities according to well-established diagnostic criteria, a subset of melanocytic lesi...

Context.— Accurate diagnosis of melanocytic lesions is fundamental for appropriate clinical management. Objective.— To evaluate the degree of discordance, if any, between histopathologic diagnoses of melanocytic lesions at referring institutions and at a tertiary referral cancer center and the potential impact of such discordance on clinical manag...

The development of immune checkpoint inhibitor (ICI) therapy with anti‐CTLA‐4 and anti‐PD‐1/L1 monoclonal antibodies has led to a paradigm shift in cancer therapy. ICI neoadjuvant therapy followed by surgery has become the standard of care for several advanced‐stage cancers. The pathology associated with ICI therapy is vast and includes neoadjuvant...

Context.— Acral lentiginous melanoma is a rare and aggressive type of cutaneous melanoma that arises on the acral skin and the nail unit. The prognostic significance of subungual anatomic site in acral lentiginous melanoma is not established. Objective.— To assess the impact of subungual anatomic site on overall survival and disease-specific survi...

Background MUC18 is a glycoprotein highly expressed on the surface of melanoma and other cancers which promotes tumor progression and metastasis. However, its mechanism of action and suitability as a therapeutic target are unknown. Methods A monoclonal antibody (mAb) (JM1-24-3) was generated from metastatic melanoma tumor live cell immunization, a...

Mammary Paget disease (MPD) comprises 1.45% all male breast cancers, compared with only 0.68% of all female breast cancers. Patients usually present in the fifth and sixth decades of life with ulceration, eczematous changes, discharge, bleeding, itching, and induration of the nipple and areola. Typically, there is a delay in definitive diagnosis an...

Mycosis fungoides (MF) immunophenotype appears to shift with disease progression and possibly stage-dependent dysregulation of T helper (Th) immune response. While early MF typically displays a Th1 phenotype, late stage MF appears to show increase in Th2 type cytokines and reduction of Th1 response. GATA3 is considered a master regulator for Th2 ce...

Context.—: Molecularly distinct from cutaneous melanomas arising from sun-exposed sites, acral lentiginous melanomas (ALMs) typically lack ultraviolet-signature mutations, such as telomerase reverse transcriptase (TERT) promoter mutations. Instead, ALMs show a high degree of copy number alterations, often with multiple amplifications of TERT, which...

Currently there is no highly specific and sensitive marker to identify breast cancer-the most common malignancy in women. Breast cancer can be categorized as estrogen receptor (ER)/progesterone receptor (PR)-positive luminal, human epidermal growth factor receptor 2 (HER2)-positive, or triple-negative breast cancer (TNBC) types based on the express...

Background: Anorectal melanoma (AM) is generally staged using criteria developed and validated for cutaneous melanoma (CM), primarily due to its rarity and the lack of a specific staging system, despite limited evidence to support this. In an attempt to risk-stratify AM patients (pts), we analyzed the performance of the AJCC 8th edition CM staging...

Context: As teaching hospitals institute social distancing and defer non-emergent procedures to cope with the coronavirus disease 2019 (COVID-19) pandemic, the need for daily onsite presence, unless necessary has been reduced for all medical staff including trainees. Pathology training programs must adapt to these changes to ensure overall safety...

The tumor microenvironment (TME) plays critical roles in tumor growth and progression, however key regulators of gene expression in the TME of cutaneous malignant peripheral nerve sheath tumor (C-MPNST) and spindle cell melanoma (SCM) have not been well elucidated. Herein, we investigate the epigenetic regulation of promoters and gene bodies and th...

Acral lentiginous melanoma (ALM) is a rare type of cutaneous melanoma with a poor prognosis. It is unclear whether the poor outcome of ALM is due to its inherent disease characteristics or advanced stage at initial diagnosis. To address this question, we retrospectively analyzed the clinicopathologic factors of 828 thin (T1; Breslow thickness ≤1.0...

The use of social media at academic conferences is expanding, and platforms such as Twitter are used to share meeting content with the world. Pathology conferences are no exception, and recently, pathology organizations have promoted social media as a way to enhance meeting exposure. A social media committee was formed ad hoc to implement strategie...

Langerhans cell sarcoma (LCS) is rare and aggressive and patients have an overall survival rate of less than 50%. We present a 62‐year old man with a history of superficial spreading melanoma of the upper back with sentinel lymph node metastasis, Langerhans cell histiocytosis and LCS. The patient presented with erythematous papules and scaly areas...

Cutaneous carcinosarcomas are rare biphenotypic tumors that simultaneously show epithelial and mesenchymal differentiation. The most common carcinomatous components in skin carcinosarcomas are basal cell carcinoma and squamous cell carcinoma; adnexal carcinomas are rarely encountered. We report a case of an adnexal carcinoma with ductal and squamou...

Aim: Evaluate the accuracy of a 23-gene expression signature in differentiating benign nevi from melanoma by comparing test results with clinical outcomes. Materials & methods: Seven dermatopathologists blinded to gene expression test results and clinical outcomes examined 181 lesions to identify diagnostically uncertain cases. Participants indepen...

The authors present 2 patients with locally advanced conjunctival melanoma for whom definitive surgery would mean an orbital exenteration with its associated inherent total visual loss and major facial disfigurement. Instead both patients were treated with immune checkpoint inhibitor therapy. In 1 patient neoadjuvant pembrolizumab was used for appr...

Adenoid cystic carcinoma (ACC) is most commonly seen in the salivary gland but may occur at other sites. Primary or metastatic involvement of the skin is unusual. We report two cases of adenoid cystic carcinoma with unusual presentation. In the first case, a 55-year-old woman presented with a cutaneous lesion on the right shin, and final pathology...

The family of blue nevi includes the common blue nevus (BN), cellular blue nevus (CBN), and atypical BN, while melanomas with BN-like morphology can either arise in association with a blue nevus (MABN) or in the de novo setting mimicking cellular blue nevus (MMCBN). Recent molecular and immunohistochemical studies have demonstrated loss of BAP-1 in...

Immune checkpoint inhibitors (ICIs) for cancer treatment has revolutionized the field of medicine. However, an unintended but frequent consequence of ICI therapy is the development of cutaneous immune‐related adverse events (irAEs), such as lichenoid dermatitis irAEs (LD‐irAEs). The hypertrophic variant of LD‐irAE may be a diagnostic challenge sinc...

It is well known to pathologists that melanoma is “the great mimicker”, looking like almost any other tumor, and able to metastasize anywhere in the body. We report a case of a 48‐year‐old female with a history metastatic melanoma 4舁years before, presented with a hepatic mass. Microscopic examination of the liver mass revealed sheets of pleomorphic...

The presence or absence of metastasis in sentinel lymph nodes often drives melanoma staging, prognosis, and treatment. However, distinguishing between metastatic melanoma cells and clusters of benign melanocytic nevus cells is not always straightforward. When morphologic hematoxylin and eosin interpretation alone is not sufficient, additional hemat...

The integrity of the immune system represents a pivotal risk factor and prognostic biomarker for Merkel cell carcinoma. A higher density of tumor-associated T cells correlates with improved Merkel cell carcinoma-specific survival, but the prognostic importance of the T-cell infiltrate reactivity is unknown. We evaluated the T-cell receptor repertoi...

Adenoid cystic carcinoma (ACC) is a rare tumor that arises at sites including the salivary gland, breast and skin. Cutaneous metastases secondary to breast ACC is an extremely rare occurrence. We describe a 49-year-old woman presenting with a palpable left breast mass. Biopsy confirmed the diagnosis of ACC, high-grade (>30% solid areas). She underw...

In routine practice lipomatous tumors are commonly encountered. We describe a 64-year-old man presenting with a soft, subcutaneous nodule on the right posterior neck measuring 5cm. Neck flexion was becoming increasingly bothersome and treatment was requested. Excision was performed. Pathologic analysis demonstrated a mature adipose tumor composed o...

Adenoid cystic carcinoma (ACC) is a rare tumor that arises at sites including the salivary gland, breast and skin. Cutaneous metastases secondary to breast ACC is an extremely rare occurrence. We describe a 49-year-old woman presenting with a palpable left breast mass. Biopsy confirmed the diagnosis of ACC, high-grade (>30% solid areas). She underw...

Background: Primary cutaneous melanoma of the breast (PCMB) is a relatively uncommon type of melanoma staged according to the AJCC system for other cutaneous melanomas. However, whether their outcome is different from primary cutaneous melanomas of other sun-exposed sites and the features that predict outcome specifically in PCMB are currently uncl...

Transforming growth factor beta‐1 (TGF‐β1) is expressed in normal epidermis. TGF‐β1 potently inhibits keratinocyte proliferation and immunomodulatory properties, mainly by suppressing immune responses to self‐antigens. Lichen planus (LP) is a form of dermatitis caused by cell‐mediated immune dysfunction, but the exact pathogenic pathways are unknow...

Background: Differentiation of adenoma and pheochromocytoma on computed tomography (CT) may be problematic. Purpose: To investigate if adenoma and pheochromocytoma can be differentiated with adrenal CT. Material and methods: A total of 147 pathologically proven adrenal masses (119 adenomas, 28 pheochromocytomas) that had undergone adrenal CT w...

Melanoma is a heterogeneous neoplasm at the histomorphologic, immunophenotypic, and molecular levels. Melanoma with extreme histomorphologic heterogeneity can pose a diagnostic challenge in which the diagnosis may predominantly rely on its immunophenotypic profile. However, tumor survival and response to therapy are linked to tumor genetic heteroge...

To investigate the role of tumor cytokines/chemokines in melanoma immune response, we estimated the proportions of immune cell subsets in melanoma tumors from The Cancer Genome Atlas, followed by evaluation of the association between cytokine/chemokine expression and these subsets. We then investigated the association of immune cell subsets, chemok...

The pathological diagnosis of melanoma can be challenging. The provision of an appropriate biopsy and pertinent history can assist in establishing an accurate diagnosis and reliable estimate of prognosis. In their reports, pathologists should document both the criteria on which the diagnosis was based as well as important prognostic parameters. For...

A 51-year-old white woman with a past medical history significant for steroid-dependent ulcerative colitis, rheumatoid arthritis, and diabetes mellitus presented to the hospital with fever and painful, erythematous subcutaneous nodules on the medical aspects of both thighs. Histopathologic examination showed features suggestive of an abscess, but h...

Introduction: The use of immune checkpoint inhibitors (ICIs) for cancer treatment has revolutionized the field of medicine. However, an unintended, but frequent consequence of ICI therapy is the development of cutaneous immune-related adverse events (irAEs). Lichenoid dermatitis(LD)-irAE is a frequent cutaneous toxicity to ICI therapy. A hypertr...

Background: In patients with cutaneous melanoma (CM), metastasis in a non-sentinel lymph node (non-SLN) is a strong independent adverse prognostic factor. However, patients with a tumor-involved SLN no longer routinely undergo completion lymph node dissection (CLND). We hypothesized that SLN tumor burden may predict non-SLN tumor burden. Methods:...

Pathological staging of primary anorectal mucosal melanoma is often performed according to the American Joint Commission on Cancer (AJCC) guidelines for cutaneous melanoma, as an anorectal melanoma-specific staging system does not exist. However, it remains unknown whether prognostic factors derived for cutaneous melanoma also stratify risk in anor...

Most of metastatic tumors to the skin are from primary tumors of the breast, lung, or from melanoma; metastases to the skin from primary carcinomas at other sites are rare. Cutaneous metastases of visceral carcinomas most often occur in patients with advanced disease, and are associated with a poor prognosis. We report 6 cases of nonmammary, nonpul...

Identifying tumor characteristics that correlate with metastasis and survival in patients with conjunctival melanoma can potentially lead to better outcomes through a better selection of patients for adjuvant treatments including potentially life-saving new melanoma therapy. The objective of this study was to validate the conjunctival melanoma stag...

Cutaneous squamous cell carcinoma (cSCC) is the second most common cause of nonmelanoma skin cancers. Although it has a relatively low mortality rate, it may be locally destructive and potentially metastasize. Tumor thickness of the primary lesion is one important parameter associated with biologic behavior. Such measurement is currently performed...

We report 2 cases of combined cutaneous tumors composed of melanoma and carcinoma. The first tumor presented as a 5‐mm pink‐blue macule over the right zygomatic arch in an 85‐year‐old man. Shave biopsy and immunohistochemical studies revealed that the tumor was composed of melanoma (highlighted by SOX10 and MART‐1, with high Ki‐67 proliferative ind...

Multinucleated giant cells (MGC) are commonly seen in an array of neoplastic and non-neoplastic conditions, to include: granulomatous dermatitis, fibrohistiocytic lesions such as xanthogranulomas, and soft tissue tumors such as giant cell tumors of soft tissue. In addition, multinucleated giant cells are infrequently seen in melanoma, squamous cell...

Cutaneous immune‐related adverse events (irAEs) are a known consequence of immune checkpoint inhibitor (ICI) therapy and may exhibit a spectrum of morphologic features both clinically and histologically. Lichenoid dermatitis associated with ICI therapy (LD‐ICI) is the most frequently encountered histopathologic type of irAE biopsied by dermatologis...

Patients with blastic plasmacytoid dendritic cell neoplasm (BPDCN) have poor outcomes despite intensive chemotherapy, underscoring the need for novel therapeutic approaches. The expression status of PD1/PD-L1 in BPDCN remains unknown. We evaluated PD1/PD-L1 by immunohistochemistry and RNAseq expression profiling in a cohort of BPDCN patients. The s...

Spiradenoma and cylindroma are related sweat gland tumors. To delineate their histogenesis, gene profiles, and their potential drivers, we performed a whole-transcriptome sequencing analysis of fourteen samples of spiradenoma/cylindroma in comparison to normal samples. A total of 12 spiradenomas, 5 cylindromas, 3 hybrid spiradenomas/cylindromas and...

Our recent work regarding Merkel cell carcinoma sentinel lymph node (SLN) metastasis found that "solid" pattern microscopic metastasis conferred worse prognosis than the "nonsolid" ones. The goals of the present study were to (1) compare the prognostic significance/outcomes of 2 diagnostic groups-patients with a nonsolid pattern of SLN metastasis a...

Background Sinonasal papilloma has a tendency toward local destruction, recurrence, and malignant transformation. This study aimed to unravel mechanisms in the malignant transformation of sinonasal papillomas using RNA‐seq. Methods The cohort consisted of 37 consecutive patients; tumor histology included a continuum spectrum (sinonasal papillomas/...

The presence of multiple BAP1-negative melanocytic neoplasms is a hallmark of familial cancer susceptibility syndrome caused by germline mutations in BAP1. Melanocytic tumors lacking BAP1 expression may also present as sporadic lesions in patients lacking a germline BAP1 mutation. Here, we report histomorphologic and clinical characteristics of cut...

Background Cancer patients receiving antibodies abrogating immune checkpoint pathways may develop a diverse array of immune‐related adverse events (irAEs), of which lichenoid dermatitis (LD) is the most common. The mechanism driving the emergence of these irAEs remain understudied, underscoring a critical need to determine the unique gene expressio...

Rendering accurate pathology diagnoses is crucial to patient management. However, in some cases, the diagnostic area may be absent from the initial sections, due to several technical factors such as (i) small diameter of the punch biopsy precluding bisecting of the sample during grossing, (ii) tangential tissue embedding and (iii) superficial block...

urpose: Merkel cell carcinoma (MCC) is an aggressive cutaneous malignancy whose pathogenesis and prognosis are related to the integrity of the host immune system. Despite promising clinical responses to immune-checkpoint blockade, response and resistance remain unpredictable, underscoring a critical need to delineate novel prognostic biomarkers and...

Gynecologic and Urologic Pathology - edited by Maria Rosaria Raspollini