RESUMO
ABSTRACT: Cuticular poroma is a rare variant of poroma composed of exclusively or predominantly cuticular cells, namely of large cells with ample eosinophilic cytoplasm. We report 7 cases of this rare tumor identified among 426 neoplasms diagnosed as poroma or porocarcinoma. The patients were 4 males and 3 females, ranging in age from 18 to 88 years. All presented with a solitary asymptomatic nodule. The location included knee (2 cases), shoulder, thigh, shin, lower arm, and neck (each 1). All lesions were surgically removed. No evidence of disease was observed in 5 patients with available follow-up (range 12-124 months).Microscopically, all neoplasms were composed of variably sized, focally closed packed, or interconnecting nodules constituted mostly of cuticular cells. Small poroid cells were a focal feature in 5 tumors, whereas in the remaining 2 cases, poroid cells with conspicuous but still in minority. Five neoplasms were somewhat asymmetric, with irregular outlines. Ductal differentiation and intracytoplasmic vacuoles were seen in 6 tumors. Other features variably encountered were conspicuous intranuclear pseudoinclusions, cystic change, occasional multinucleated cells, increased mitoses, and stromal desmoplasia. Four of the 5 tumors analyzed with next-generation sequencing yielded YAP1::NUTM1 fusions. In addition, various mutations, mostly of unknown significance were identified in one neoplasm.
Assuntos
Porocarcinoma Écrino , Poroma , Neoplasias das Glândulas Sudoríparas , Masculino , Feminino , Humanos , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Poroma/genética , Poroma/patologia , Neoplasias das Glândulas Sudoríparas/genética , Neoplasias das Glândulas Sudoríparas/patologia , Fatores de Transcrição/genética , Porocarcinoma Écrino/genéticaRESUMO
BACKGROUND: Rubella virus-induced granulomas have been described in patients with various inborn errors of immunity. Most defects impair T-cell immunity, suggesting a critical role of T cells in rubella elimination. However, the molecular mechanism of virus control remains elusive. OBJECTIVE: This study sought to understand the defective effector mechanism allowing rubella vaccine virus persistence in granulomas. METHODS: Starting from an index case with Griscelli syndrome type 2 and rubella skin granulomas, this study combined an international survey with a literature search to identify patients with cytotoxicity defects and granuloma. The investigators performed rubella virus immunohistochemistry and PCR and T-cell migration assays. RESULTS: This study identified 21 patients with various genetically confirmed cytotoxicity defects, who presented with skin and visceral granulomas. Rubella virus was demonstrated in all 12 accessible biopsies. Granuloma onset was typically before 2 years of age and lesions persisted from months to years. Granulomas were particularly frequent in MUNC13-4 and RAB27A deficiency, where 50% of patients at risk were affected. Although these proteins have also been implicated in lymphocyte migration, 3-dimensional migration assays revealed no evidence of impaired migration of patient T cells. Notably, patients showed no evidence of reduced control of concomitantly given measles, mumps, or varicella live-attenuated vaccine or severe infections with other viruses. CONCLUSIONS: This study identified lymphocyte cytotoxicity as a key effector mechanism for control of rubella vaccine virus, without evidence for its need in control of live measles, mumps, or varicella vaccines. Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic disorders of cytotoxicity.
Assuntos
Granuloma/etiologia , Vacina contra Rubéola/efeitos adversos , Linfócitos T/imunologia , Criança , Pré-Escolar , Feminino , Granuloma/genética , Granuloma/imunologia , Granuloma/virologia , Humanos , Lactente , Fenótipo , Rubéola (Sarampo Alemão)/genética , Rubéola (Sarampo Alemão)/imunologia , Rubéola (Sarampo Alemão)/virologia , Pele/imunologia , Pele/virologiaRESUMO
Accurate classification of melanocytic tumors is important for prognostic evaluation, treatment and follow-up protocols of patients. The majority of melanocytic proliferations can be classified solely based on clinical and pathological criteria, however in select cases a definitive diagnostic assessment remains challenging and additional diagnostic biomarkers would be advantageous. We analyzed melanomas, nevi, Spitz nevi and atypical spitzoid tumors using parallel sequencing (exons of 611 genes and 507 gene translocation analysis) and methylation arrays (850k Illumina EPIC). By combining detailed genetic and epigenetic analysis with reference-based and reference-free DNA methylome deconvolution we compared Spitz nevi to nevi and melanoma and assessed the potential for these methods in classifying challenging spitzoid tumors. Results were correlated with clinical and histologic features. Spitz nevi were found to cluster independently of nevi and melanoma and demonstrated a different mutation profile. Multiple copy number alterations and TERT promoter mutations were identified only in melanomas. Genome-wide methylation in Spitz nevi was comparable to benign nevi while the Leukocytes UnMethylation for Purity (LUMP) algorithm in Spitz nevi was comparable to melanoma. Histologically difficult to classify Spitz tumor cases were assessed which, based on methylation arrays, clustered between Spitz nevi and melanoma and in terms of genetic profile or copy number variations demonstrated worrisome features suggesting a malignant neoplasm. Comprehensive sequencing and methylation analysis verify Spitz nevi as an independent melanocytic entity distinct from both nevi and melanoma. Combined genetic and methylation assays can offer additional insights in diagnosing difficult to classify Spitzoid tumors.
Assuntos
Melanoma , Nevo de Células Epitelioides e Fusiformes , Paraganglioma , Neoplasias Cutâneas , Variações do Número de Cópias de DNA , Diagnóstico Diferencial , Humanos , Melanoma/diagnóstico , Melanoma/genética , Melanoma/patologia , Metilação , Nevo de Células Epitelioides e Fusiformes/diagnóstico , Nevo de Células Epitelioides e Fusiformes/genética , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , SíndromeRESUMO
Metabolic reprogramming mediated by hypoxia-inducible factors and its downstream targets plays a crucial role in many human malignancies. Excessive proliferation of tumor cells under hypoxic conditions leads to metabolic reprogramming and altered gene expression enabling tumors to adapt to their hypoxic environment. Here we analyzed the metabolic signatures of primary cutaneous melanomas with positive and negative sentinel node status in order to evaluate potential differences in their metabolic signature. We found a positive correlation of the expression of glucose transporter 1 (GLUT-1) with tumor thickness and ulceration in all melanomas with subgroup analyses as well as in the subgroup with a negative sentinel node. Furthermore, the expression of vascular endothelial growth factor (VEGF) was positively correlated with the presence of ulceration in melanomas with positive sentinel node.
Assuntos
Melanoma , Linfonodo Sentinela , Neoplasias Cutâneas , Hipóxia Celular , Humanos , Linfonodos/patologia , Melanoma/genética , Melanoma/patologia , Linfonodo Sentinela/metabolismo , Linfonodo Sentinela/patologia , Biópsia de Linfonodo Sentinela , Neoplasias Cutâneas/patologia , Fator A de Crescimento do Endotélio VascularRESUMO
Chondrosarcoma is the second-most common primary malignant bone tumor but chondrosarcoma of small bones of the hand is extremely rare, representing less than 2% of all cases, with exceedingly rare skin metastases. Cutaneous metastases of chondrosarcoma represent less than 3% of all cutaneous metastases. According to PubMed, there are only four previous case reports of cutaneous metastases originating from chondrosarcoma of small bones of the hand. We present an additional case of cutaneous metastases of phalangeal chondrosarcoma with a unique immunophenotype.
Assuntos
Neoplasias Ósseas , Condrossarcoma , Neoplasias Cutâneas , Condrossarcoma/patologia , Condrossarcoma/secundário , Mãos/patologia , Humanos , Neoplasias Cutâneas/secundárioRESUMO
BACKGROUND: Angiolipoma (AL) is considered as a lipoma variant that is characterized by the combination of mature adipocytes and capillary blood vessels diffusely distributed within the tumor. With the exception of recurrent PRKD2 mutations of uncertain pathogenetic significance, the genetic abnormalities of ALs are unknown, in the absence of any of the specific chromosomal aberrations described in other lipoma variants. METHODS: Formalin-fixed and paraffin-embedded blocks of 13 conventional ALs and 5 cellular ALs from 17 individuals were retrieved and analyzed for mutations in exons 9 and 20 of PIK3CA by polymerase chain reaction and Sanger sequencing. RESULTS: Activating PIK3CA mutations were identified in 14 tumors (78%). All PIK3CA-mutated samples carried the same exon 9 mutation, c.1634A>C (p.E545A). No mutation was detected in exon 20 of PIK3CA. No significant difference between PIK3CA-mutated and wild-type samples appeared to exist based on age, gender, and location of the tumor. All 5 cellular ALs carried the p.E545A PIK3CA mutation. CONCLUSION: The high frequency of the p.E545A PIK3CA mutation in both conventional and cellular ALs suggests that activation of the PI3K/AKT pathway plays a key role in AL pathogenesis and reinforces the concept that cellular AL should be regarded as a variant of AL.
Assuntos
Angiolipoma/genética , Aberrações Cromossômicas , Classe I de Fosfatidilinositol 3-Quinases/genética , Mutação de Sentido Incorreto , Neoplasias Cutâneas/genética , Adulto , Idoso , Substituição de Aminoácidos , Angiolipoma/enzimologia , Angiolipoma/patologia , Classe I de Fosfatidilinositol 3-Quinases/metabolismo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Proto-Oncogênicas c-akt/genética , Proteínas Proto-Oncogênicas c-akt/metabolismo , Transdução de Sinais/genética , Neoplasias Cutâneas/enzimologia , Neoplasias Cutâneas/patologiaRESUMO
Cutaneous clear-cell squamous cell carcinoma (ccSCC) is a rare variant of SCC composed of clear cells that lack cytoplasmic glycogen or evidence of tricholemmal keratinization. We report a previously undescribed variant of ccSCC with psammomatous calcification and intratumoral giant cell granulomas. The differential diagnosis with trichilemmal carcinoma is outlined according to the criteria of the fourth edition of World Health Organization (WHO) classification. Our findings outline that psammomatous calcification may occur inside the keratinous pearls of the neoplastic lobules triggering an intratumoral giant cell granulomatous reaction. The prognostic significance of this histopathological presentation is unknown but the potential for formation of psammoma bodies in cSCC should be considered to avoid diagnostic pitfalls.
Assuntos
Calcinose/patologia , Granuloma de Células Gigantes/patologia , Neoplasias Cutâneas/patologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/patologia , Idoso de 80 Anos ou mais , Humanos , MasculinoRESUMO
ABSTRACT: Primary extramedullary plasmacytoma is rare monoclonal proliferation of plasma cells, which arise in various nonosseous anatomic locations without detectable underlying systemic disease. Historically, cutaneous infiltrates rich in mature neoplastic plasma cells have fallen into one of the following categories, plasmacytoma, lymphoplasmacytic lymphoma, and marginal zone lymphoma, which included immunocytoma. Since 2005, each of these was subsumed under the marginal zone lymphoma umbrella, largely on the basis of acknowledged diagnostic difficulties in some of these cases. We describe 2 cases in which the cutaneous infiltrates consisted of a pure population of light chain-restricted mature plasma cells in the absence of any other evidence for a marginal zone proliferation, or evidence of extracutaneous involvement, including a paraprotein. We propose that primary cutaneous plasmacytoma is the accurate diagnosis and is consistent with wider nomenclature. The unusual observation of widespread Epstein-Barr virus expression in both tumors is also discussed.
Assuntos
Infecções por Vírus Epstein-Barr/patologia , Plasmocitoma/patologia , Plasmocitoma/virologia , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/virologia , Idoso de 80 Anos ou mais , Infecções por Vírus Epstein-Barr/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Plasmocitoma/classificaçãoRESUMO
We report the case of a 4-year-old boy, post-human stem cell transplantation for severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (ADA), who developed multiple dermatofibrosarcoma protuberans (DFSP). We hypothesize a role for chimerism leading to accumulation of toxic metabolites which can cause DNA strand breaks and inhibit lymphocyte activation. Patients with ADA-SCID should remain under lifelong dermatologic surveillance as DFSP lesions can be quite inconspicuous.
Assuntos
Dermatofibrossarcoma , Imunodeficiência Combinada Severa , Neoplasias Cutâneas , Adenosina Desaminase , Agamaglobulinemia , Criança , Pré-Escolar , Dermatofibrossarcoma/diagnóstico , Humanos , Masculino , Imunodeficiência Combinada Severa/complicações , Imunodeficiência Combinada Severa/diagnóstico , Imunodeficiência Combinada Severa/terapia , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/diagnósticoRESUMO
BACKGROUND: An increasing number of studies within digital pathology show the potential of artificial intelligence (AI) to diagnose cancer using histological whole slide images, which requires large and diverse data sets. While diversification may result in more generalizable AI-based systems, it can also introduce hidden variables. If neural networks are able to distinguish/learn hidden variables, these variables can introduce batch effects that compromise the accuracy of classification systems. OBJECTIVE: The objective of the study was to analyze the learnability of an exemplary selection of hidden variables (patient age, slide preparation date, slide origin, and scanner type) that are commonly found in whole slide image data sets in digital pathology and could create batch effects. METHODS: We trained four separate convolutional neural networks (CNNs) to learn four variables using a data set of digitized whole slide melanoma images from five different institutes. For robustness, each CNN training and evaluation run was repeated multiple times, and a variable was only considered learnable if the lower bound of the 95% confidence interval of its mean balanced accuracy was above 50.0%. RESULTS: A mean balanced accuracy above 50.0% was achieved for all four tasks, even when considering the lower bound of the 95% confidence interval. Performance between tasks showed wide variation, ranging from 56.1% (slide preparation date) to 100% (slide origin). CONCLUSIONS: Because all of the analyzed hidden variables are learnable, they have the potential to create batch effects in dermatopathology data sets, which negatively affect AI-based classification systems. Practitioners should be aware of these and similar pitfalls when developing and evaluating such systems and address these and potentially other batch effect variables in their data sets through sufficient data set stratification.
Assuntos
Inteligência Artificial/normas , Aprendizado Profundo/normas , Redes Neurais de Computação , Patologia/métodos , HumanosRESUMO
BACKGROUND: Recent years have been witnessing a substantial improvement in the accuracy of skin cancer classification using convolutional neural networks (CNNs). CNNs perform on par with or better than dermatologists with respect to the classification tasks of single images. However, in clinical practice, dermatologists also use other patient data beyond the visual aspects present in a digitized image, further increasing their diagnostic accuracy. Several pilot studies have recently investigated the effects of integrating different subtypes of patient data into CNN-based skin cancer classifiers. OBJECTIVE: This systematic review focuses on the current research investigating the impact of merging information from image features and patient data on the performance of CNN-based skin cancer image classification. This study aims to explore the potential in this field of research by evaluating the types of patient data used, the ways in which the nonimage data are encoded and merged with the image features, and the impact of the integration on the classifier performance. METHODS: Google Scholar, PubMed, MEDLINE, and ScienceDirect were screened for peer-reviewed studies published in English that dealt with the integration of patient data within a CNN-based skin cancer classification. The search terms skin cancer classification, convolutional neural network(s), deep learning, lesions, melanoma, metadata, clinical information, and patient data were combined. RESULTS: A total of 11 publications fulfilled the inclusion criteria. All of them reported an overall improvement in different skin lesion classification tasks with patient data integration. The most commonly used patient data were age, sex, and lesion location. The patient data were mostly one-hot encoded. There were differences in the complexity that the encoded patient data were processed with regarding deep learning methods before and after fusing them with the image features for a combined classifier. CONCLUSIONS: This study indicates the potential benefits of integrating patient data into CNN-based diagnostic algorithms. However, how exactly the individual patient data enhance classification performance, especially in the case of multiclass classification problems, is still unclear. Moreover, a substantial fraction of patient data used by dermatologists remains to be analyzed in the context of CNN-based skin cancer classification. Further exploratory analyses in this promising field may optimize patient data integration into CNN-based skin cancer diagnostics for patients' benefits.
Assuntos
Melanoma , Neoplasias Cutâneas , Dermoscopia , Humanos , Melanoma/diagnóstico , Redes Neurais de Computação , Neoplasias Cutâneas/diagnósticoRESUMO
Lichen planus follicularis tumidus (LPFT) is a rare clinicopathological variant of lichen planus (LP), clinically presenting with red-to-violaceous plaques studded with comedo-like lesions and keratin-filled milia-like cysts. Histopathologically, LPFT is characterized by cystically dilated follicular infundibula in the dermis, surrounded by a dense lichenoid lymphoid infiltrate with an associated interface reaction. We describe the clinicopathological features of an additional case of LPFT, focusing on the number and distribution of CD123(+) TCF4(+) plasmacytoid dendritic cells (pDCs). In our case, pDCs represented approximately 5% of the total inflammatory infiltrate, predominantly exhibiting a lichenoid distribution around the infundibula with no evidence of cluster formation, thus ruling out cutaneous lupus erythematosus. Our report is the first to describe the number and distribution of pDCs in LPFT. The results of our immunohistochemical analysis corroborate the notion that LPFT should be regarded as a rare variant of LP.
Assuntos
Células Dendríticas/patologia , Líquen Plano/patologia , Dermatopatias Papuloescamosas/patologia , Biópsia/métodos , Células Dendríticas/metabolismo , Diagnóstico Diferencial , Humanos , Imuno-Histoquímica/métodos , Imunofenotipagem/métodos , Subunidade alfa de Receptor de Interleucina-3/metabolismo , Líquen Plano/diagnóstico , Líquen Plano/genética , Lúpus Eritematoso Cutâneo/diagnóstico , Masculino , Pessoa de Meia-Idade , Fator de Transcrição 4/metabolismoRESUMO
The development of flat pigmented lesions on chronically sun-damaged (CSD) skin of the face may represent the clinical manifestation of a wide variety of hyperplastic/neoplastic melanocytic proliferations. We report the exceptional case of an acquired pigmented patch occurring on CSD skin, histopathologically characterized by diffuse hyperplasia of dendritic/spindled melanocytes in the superficial dermis within a widened band of actinic elastosis. This lesion was associated with a small focus of early invasive lentigo maligna melanoma (LMM). We show the melanocytic nature of the population of dermal pigmented cells by means of single and double immunohistochemical staining for melanocytic and histiocytic markers. The biologic significance of the focus of LMM within the hyperpigmented lesion (whether random collision phenomenon or causally related occurrence), as well as the pathogenesis of the whole dermal lesion are difficult to elucidate. Our case emphasizes the need for a better understanding of the pathophysiology of so-called dermal melanocytes.
Assuntos
Sarda Melanótica de Hutchinson/diagnóstico , Melanócitos/patologia , Melanoma/patologia , Pele/efeitos da radiação , Luz Solar/efeitos adversos , Idoso de 80 Anos ou mais , Derme/patologia , Seguimentos , Humanos , Sarda Melanótica de Hutchinson/metabolismo , Sarda Melanótica de Hutchinson/patologia , Hiperpigmentação , Imuno-Histoquímica/métodos , Masculino , Melanócitos/citologia , Transtornos de Fotossensibilidade/patologia , Pele/patologia , Neoplasias Cutâneas/patologiaRESUMO
The association of syringocystadenoma papilliferum (SCAP) with verrucous carcinoma (VC) of the skin in the same lesion is a rare, but well-documented event. Although human papillomaviruses (HPV) have been proposed to have an etiologic role in the development of the verrucous proliferations associated with SCAP, most of the immunohistochemical and molecular studies have failed to show the presence of their genomic material in these lesions. We report a series of four cases of SCAP associated with VC in anogenital lesions. In two of the cases, we demonstrated the presence of the BRAF V600E mutation by polymerase chain reaction and immunohistochemistry, both in the glandular and in the squamous component. No HPV-related histopathologic changes were found, nor could the presence of viral DNA be showed.
Assuntos
Carcinoma Verrucoso , Mutação de Sentido Incorreto , Segunda Neoplasia Primária , Proteínas Proto-Oncogênicas B-raf , Neoplasias das Glândulas Sudoríparas , Adenomas Tubulares de Glândulas Sudoríparas , Idoso , Idoso de 80 Anos ou mais , Substituição de Aminoácidos , Carcinoma Verrucoso/genética , Carcinoma Verrucoso/metabolismo , Carcinoma Verrucoso/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Segunda Neoplasia Primária/genética , Segunda Neoplasia Primária/metabolismo , Segunda Neoplasia Primária/patologia , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas B-raf/metabolismo , Neoplasias das Glândulas Sudoríparas/genética , Neoplasias das Glândulas Sudoríparas/metabolismo , Neoplasias das Glândulas Sudoríparas/patologia , Adenomas Tubulares de Glândulas Sudoríparas/genética , Adenomas Tubulares de Glândulas Sudoríparas/metabolismo , Adenomas Tubulares de Glândulas Sudoríparas/patologiaRESUMO
This study analysed the expression of vascular endothelial growth factor-A (VEGF), VEGFR-2, and VEGFR-3 in primary cutaneous melanomas with positive and negative sentinel node status (SLN) (a total of 58 specimens divided into 2 groups of 29 for each status). The specimens were collected from the pathological archive of the department of Dermatology, Venereology and Allergology of the University Medical Center Heidelberg. A quantification score was developed for protein expression, by considering the percentage of positive melanoma cells (0: 0%, 1: up to 1%, 2: 2-10%, 3: 11-50%, and 4: > 50%) in relation to the intensity of staining (0: negative, 1: low, 2: medium, 3: strong). Tumoural VEGFR-3 expression (mean ± standard deviation) in SLN+ tumours (9.62 ± 3.09) was significantly stronger than in SLN- tumours (6.13 ± 3.87; p < 0.001). A binary logistic regression model proved VEGFR-3 expression and tumour thickness to be significant independent predictors of SLN. These data provide evidence that VEGFR-3 expression may play a critical role in the pathogenesis of malignant melanoma and that its investigation may help to improve the selection of patients with primary cutaneous melanoma for sentinel node biopsy.
Assuntos
Melanoma , Neoplasias Cutâneas , Receptor 3 de Fatores de Crescimento do Endotélio Vascular , Humanos , Metástase Linfática , Prognóstico , Biópsia de Linfonodo Sentinela , Neoplasias Cutâneas/cirurgia , Fator A de Crescimento do Endotélio Vascular , Receptor 3 de Fatores de Crescimento do Endotélio Vascular/metabolismoRESUMO
BACKGROUND: Cutaneous benign angioproliferations can be diagnostically challenging and may mimic vascular tumors. Keratinocytes express vascular endothelial growth factors (VEGFs). We studied the angiogenic factor expression pattern in cutaneous lesions with a distinctive pattern of remarkable dermal angiomatosis underlying prurigo-like epidermal changes. METHODS: Cases were selected retrospectively from 2012 to 2018, and their VEGF staining pattern was compared with normal skin and other reactive skin conditions. RESULTS: Thirty-eight patients, median age 76 years, mostly men (74%), presented with asymptomatic patches or plaques, most commonly located on the buttocks (n = 17) and/or intergluteal fold (n = 12), often eliciting concern for neoplasia (n = 19). Microscopically, all cases featured a prominent proliferation of dilated capillaries and postcapillary venules, underneath epidermal changes resembling prurigo or lichen simplex chronicus. In one-third, a subepidermal lymphocytic infiltrate was present. Immunostaining with VEGF was positive in the upper 4/5 of the epidermis overlying the angioproliferation, in contrast with nonlesional skin, where VEGF positivity was limited to the stratum granulosum. Receptor VEGFR-2 was expressed in the endothelia of neovessels. CONCLUSIONS: We propose the term prurigiform angiomatosis for the morphological picture of prurigo/lichen simplex chronicus-like epidermal hyperplasia with prominent dermal angioproliferation. Mechanical injury and inflammation are the likely triggers of this reactive angiogenesis pattern, driven by epidermal VEGF expression.
Assuntos
Angiomatose/patologia , Dermatopatias/patologia , Fatores de Crescimento do Endotélio Vascular/metabolismo , Idoso , Idoso de 80 Anos ou mais , Angiomatose/metabolismo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Dermatopatias/metabolismoRESUMO
Malignant melanoma is the skin tumor that causes most deaths in Germany. At an early stage, melanoma is well treatable, so early detection is essential. However, the skin cancer screening program in Germany has been criticized because although melanomas have been diagnosed more frequently since introduction of the program, the mortality from malignant melanoma has not decreased. This indicates that the observed increase in melanoma diagnoses be due to overdiagnosis, i.e. to the detection of lesions that would never have created serious health problems for the patients. One of the reasons is the challenging distinction between some benign and malignant lesions. In addition, there may be lesions that are biologically equivocal, and other lesions that are classified as malignant according to current criteria, but that grow so slowly that they would never have posed a threat to patient's life. So far, these "indolent" melanomas cannot be identified reliably due to a lack of biomarkers. Moreover, the likelihood that an in-situ melanoma will progress to an invasive tumor still cannot be determined with any certainty. When benign lesions are diagnosed as melanoma, the consequences are unnecessary psychological and physical stress for the affected patients and incurred therapy costs. Vice versa, underdiagnoses in the sense of overlooked melanomas can adversely affect patients' prognoses and may necessitate more intense therapies. Novel diagnostic options could reduce the number of over- and underdiagnoses and contribute to more objective diagnoses in borderline cases. One strategy that has yielded promising results in pilot studies is the use of artificial intelligence-based diagnostic tools. However, these applications still await translation into clinical and pathological routine.
Assuntos
Melanoma , Neoplasias Cutâneas , Inteligência Artificial , Alemanha , Humanos , Uso Excessivo dos Serviços de SaúdeRESUMO
Carcinosarcomas are biphasic tumors composed of admixed malignant epithelial and mesenchymal components. Numerous terms have been used to name such neoplasms; therefore, terminological confusion is frequent. Most examples of carcinosarcomas are encountered in non-cutaneous sites, with approximately 100 cases of cutaneous carcinosarcomas reported so far in the English literature. Although different theories have been suggested to explain the occurrence of these peculiar neoplasms, histogenetic mechanisms should be better hypothesized depending on each individual case. Even though prognosis tends to be related to the specific components of the lesion, especially the epithelial one, it seems that cases of cutaneous localization usually have a better outcome. We report an exceedingly rare case of syringocystadenocarcinoma papilliferum which showed an atypical stroma with sarcomatoid appearance, and highlight that the terminology used for this spectrum of lesions is disorganized and confusing.
Assuntos
Carcinossarcoma , Neoplasias Cutâneas , Idoso de 80 Anos ou mais , Carcinossarcoma/diagnóstico , Carcinossarcoma/metabolismo , Carcinossarcoma/patologia , Feminino , Humanos , Prognóstico , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologiaRESUMO
Cellular neurothekeoma (CNT) is a dermal lesion with still unknown histogenesis, characterized by immunohistochemical staining for NKI/C3, NSE, MiTF, CD10 and CD68, whereas S100 protein, desmin and cytokeratins are negative. Particularly, in several studies NKI/C3 has been reported as a strong marker of CNT. We describe herein the clinical, histopathological and immunohistochemical features of two cases morphologically consistent with myxoid CNT, one of which showing some atypical features, both characterized by negative immunohistochemical staining for NKI/C3. Our findings stress the importance of morphology in diagnosing CNT and underline the fact that NKI/C3 can fail to stain cases belonging to the "neurothekeoma family." In selected cases of CNT, an expanded immunohistochemical panel is mandatory to differentiate this tumor from other dermal lesions.
Assuntos
Proteínas de Neoplasias/metabolismo , Neurotecoma , Neoplasias Cutâneas , Adulto , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neurotecoma/diagnóstico , Neurotecoma/metabolismo , Neurotecoma/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologiaRESUMO
We review the spectrum of cutaneous disorders associated with inflammatory and neoplastic plasmacytic pathology. Because plasma cells are derived from B-lymphocytes our overview includes discussion of certain lymphoplasmacytic proliferations. It is structured along histopathological lines, addressing conditions characterized by (a) cutaneous plasma cell infiltrates, (b) deposits of plasma cell products or their derivatives in the skin and (c) miscellaneous, poorly understood cutaneous complications of plasmacytic disorders. Lesions arising primarily in the skin and those due to cutaneous involvement by multisystem disorders are addressed. The range includes a spectrum of tumefactive and circulatory manifestations. We highlight key clinical and pathological features of the different conditions and outline recent advances in our understanding of these entities. By emphasizing the dermatopathological characteristics of this spectrum of disorders we hope to hone the diagnostic accuracy of practitioners in the field.