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The American Journal of Surgical... Nov 2018PRAME (PReferentially expressed Antigen in MElanoma) is a melanoma-associated antigen that was isolated by autologous T cells in a melanoma patient. While frequent PRAME... (Comparative Study)
Comparative Study
PRAME (PReferentially expressed Antigen in MElanoma) is a melanoma-associated antigen that was isolated by autologous T cells in a melanoma patient. While frequent PRAME mRNA expression is well documented in cutaneous and ocular melanomas, little is known about PRAME protein expression in melanocytic tumors. In this study we examined the immunohistochemical expression of PRAME in 400 melanocytic tumors, including 155 primary and 100 metastatic melanomas, and 145 melanocytic nevi. Diffuse nuclear immunoreactivity for PRAME was found in 87% of metastatic and 83.2% of primary melanomas. Among melanoma subtypes, PRAME was diffusely expressed in 94.4% of acral melanomas, 92.5% of superficial spreading melanomas, 90% of nodular melanomas, 88.6% of lentigo maligna melanomas, and 35% of desmoplastic melanomas. When in situ and nondesmoplastic invasive melanoma components were present, PRAME expression was seen in both. Of the 140 cutaneous melanocytic nevi, 86.4% were completely negative for PRAME. Immunoreactivity for PRAME was seen, albeit usually only in a minor subpopulation of lesional melanocytes, in 13.6% of cutaneous nevi, including dysplastic nevi, common acquired nevi, traumatized/recurrent nevi, and Spitz nevi. Rare isolated junctional melanocytes with immunoreactivity for PRAME were also seen in solar lentigines and benign nonlesional skin. Our results suggest that immunohistochemical analysis for PRAME expression may be useful for diagnostic purposes to support a suspected diagnosis of melanoma. It may also be valuable for margin assessment of a known PRAME-positive melanoma, but its expression in nevi, solar lentigines, and benign nonlesional skin can represent a pitfall and merits further investigations to better assess the potential clinical utility of this marker.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Antigens, Neoplasm; Biomarkers, Tumor; Child; Female; Humans; Hutchinson's Melanotic Freckle; Immunohistochemistry; Male; Melanocytes; Melanoma; Middle Aged; Nevus, Pigmented; Reproducibility of Results; Skin Neoplasms; Young Adult
PubMed: 30045064
DOI: 10.1097/PAS.0000000000001134 -
Dermatology Practical & Conceptual Apr 2023Melanoma on the head/neck area can show subtle clinical, dermoscopic and histologic features at early stages, being difficult to differentiate from junctional nevi.
INTRODUCTION
Melanoma on the head/neck area can show subtle clinical, dermoscopic and histologic features at early stages, being difficult to differentiate from junctional nevi.
OBJECTIVES
This case series aims to raise awareness on the topic of misdiagnosis of early lentigo maligna as junctional nevi.
METHODS
From the databases of three pigmented lesion clinics in Italy, Australia, and France, we retrieved all cases of lesions of the head/neck area with an initial histopathologic diagnosis of junctional nevus (JN) or dysplastic junctional nevus (DJN) which subsequently recurred and were ultimately diagnosed as melanoma. Moreover, we also retrieved those cases with an initial diagnosis of JN/DJN made on a partial biopsy that were diagnosed as melanoma after complete surgical removal.
RESULTS
Here we report 14 cases in which the initial histologic diagnosis was junctional nevus or dysplastic junctional nevus. The lesions recurred over time with a final diagnosis of lentigo maligna.
CONCLUSIONS
Clinicians should critically question a given histologic diagnosis of junctional or dysplastic junctional nevus on the head/neck area if the clinical or dermoscopic features are discordant. Clinico-pathologic correlation is the best way to increase diagnostic accuracy and optimize management for the patient.
PubMed: 36947065
DOI: 10.5826/dpc.1302a122 -
Computational and Mathematical Methods... 2022The objective of this study was to explore the image classification and case characteristics of pigmented nevus (PN) diagnosed by dermoscopy under deep learning. 268... (Randomized Controlled Trial)
Randomized Controlled Trial
The objective of this study was to explore the image classification and case characteristics of pigmented nevus (PN) diagnosed by dermoscopy under deep learning. 268 patients were included as the research objects and they were randomly divided into observation group ( = 134) and control group ( = 134). Image recognition algorithm was used for feature extraction, segmentation, and classification of dermoscopic images, and the image recognition and classification algorithm were studied as the performance and accuracy of fusion classifier were compared. The results showed that the classifier was optimized, and the linear kernel accuracy was 85.82%. The PN studied mainly included mixed nevus, junctional nevus, intradermal nevus, and acral nevus. The sensitivity under collaborative training was higher than that under feature training and fusion feature training, and the differences among three trainings were significant ( < 0.05). The sensitivity of the observation group was 88.65%, and the specificity was 90.26%, while the sensitivity and the specificity of the control group were 85.65% and 84.03%, respectively; there were significant differences between the two groups ( < 0.05). In conclusion, dermoscopy under deep learning could be applied as a diagnostic way of PN, which helped improve the accuracy of diagnosis. The dermoscopic manifestations of PN showed a certain corresponding relationship with the type of cases and could provide auxiliary diagnosis in clinical practice. It could be applied clinically.
Topics: Deep Learning; Dermoscopy; Humans; Melanoma; Nevus; Nevus, Pigmented; Skin Neoplasms
PubMed: 35669372
DOI: 10.1155/2022/9726181 -
Journal of Medicine and Life 2017Reelin is an extracellular signaling protein synthesized by Cajal-Retius cells in utero and early after birth, its presence being signaled in adult life too. Reelin acts...
Reelin is an extracellular signaling protein synthesized by Cajal-Retius cells in utero and early after birth, its presence being signaled in adult life too. Reelin acts on its receptors, VLDLR and ApoER2, acting on cytoskeleton, controlling migration and subsequently positioning and stabilizing the cortical neurons. We investigated the reelin presence and its receptors, VLDLR and ApoER2, in melanocytic nevi considering the neural crest origin of the nevus cells and their migration into skin during embrionary period. Melanocytic nevi present a strict cellular architecture and an increased malignant transforming capacity. We investigated reelin presence in 32 melanocytic nevi (5 junctional, 27 compound or 14 dysplastic nevi and 18 non dysplastic nevi). The assessment of reelin presence was performed by histological semiquantitative criteria. Results showed the presence of reelin in 29 cases (29/ 32). The presence of reelin was elevated in junctional areas as in dysplastic nevi. VLDLR presented positive values in 16 cases (16/ 32) and ApoER2 was weak positive in 7 cases. Reelin or its receptors was peritumorally absent. Our study showed the presence of reelin in nevus cells from cutaneous melanocytic nevi and, in these cells, only the VLDLR receptor was present in half of the cases. The significance of the reelin presence in cutaneous nevus cells may be hypothetically considered correlated with the position maintenance of the nevus cells or migration of these cells in malignant transforming situation. ApoER2 = apolipoprotein receptor 2, VLDLR = very low density lipoprotein receptor, DAB-1 = DIABLO protein, HMB45 = gene HMB45.
Topics: Adolescent; Adult; Animals; Cell Adhesion Molecules, Neuronal; Extracellular Matrix Proteins; Female; Humans; Immunohistochemistry; LDL-Receptor Related Proteins; Male; Middle Aged; Nerve Tissue Proteins; Nevus, Pigmented; Receptors, LDL; Reelin Protein; Serine Endopeptidases; Young Adult
PubMed: 28255385
DOI: No ID Found -
Genes Aug 2021Dermoscopy is a non-invasive, in vivo technique that allows the visualization of subsurface skin structures in the epidermis, at the dermoepidermal junction, and in the... (Review)
Review
Dermoscopy is a non-invasive, in vivo technique that allows the visualization of subsurface skin structures in the epidermis, at the dermoepidermal junction, and in the upper dermis. Dermoscopy brought a new dimension in evaluating melanocytic skin neoplasms (MSN) also representing a link between clinical and pathologic examination of any MSN. However, histopathology remains the gold standard in diagnosing MSN. Dermoscopic-pathologic correlation enhances the level of quality of MSN diagnosis and increases the level of confidence of pathologists. Melanoma is one of the most genetically predisposed among all cancers in humans. The genetic landscape of melanoma has been described in the last years but is still a field in continuous evolution. Melanoma genetic markers play a role not only in melanoma susceptibility, initiation, and progression but also in prognosis and therapeutic decisions. Several studies described the dermoscopic specific criteria and predictors for melanoma and their histopathologic correlates, but only a few studies investigated the correlation among dermoscopy, pathology, and genetic of MSN. The aim of this work is to review the published data about dermoscopic features of melanoma, their histopathological correlates with regards also to genetic alterations. Particularly, this review will focus on low-CSD (cumulative sun damage) melanoma or superficial spreading melanoma, high-CSD melanoma, and nevus-associated melanoma.
Topics: Dermoscopy; Humans; Melanoma; Skin; Skin Neoplasms; Melanoma, Cutaneous Malignant
PubMed: 34440462
DOI: 10.3390/genes12081288 -
The Journal of Investigative Dermatology Mar 1993Patterns in giant congenital nevi are classified as to extent of cellular involvement of the reticular dermis and by the quality of the fibrous matrix. In addition,... (Review)
Review
Patterns in giant congenital nevi are classified as to extent of cellular involvement of the reticular dermis and by the quality of the fibrous matrix. In addition, classifications are influenced by degrees of cellular atypia. Two general categories are defined. In one, the phenomena are relatively independent of those operative at the dermal-epidermal interface. The lesions are characterized as dermal congenital tumorous dysplasias-blastomas. They are subdivided into major, intermediate, and minor categories and into mature and immature variants. In these variants, disparate populations in the patterns of nodules and plaques (lumpy-bumpy variants) qualify as dermal variants of minimal deviation melanoma as seen in the setting of giant congenital nevi. The respective melanomas in this category are small-cell malignant neoplasms (melanoblastomas of infancy and childhood). In a second category in the clinical setting of giant congenital nevus, rare childhood and some adult melanomas of a more common histologic type evolve from lentiginous and junctional components in patterns that recapitulate those of the dysplastic nevus syndrome. The suspicious areas in all categories are evaluated by the same clinical criteria. In the dysplasia-blastoma category, enlarging nodules must be biopsied. The criteria for the evaluation of lesions in the dysplastic nevus syndrome and in the category of minimal deviation melanoma have application to the unstable regions in giant congenital nevi.
Topics: Humans; Nevus
PubMed: 8440910
DOI: 10.1111/1523-1747.ep12470191 -
The American Journal of Surgical... Aug 2022Pigmented epithelioid melanocytoma is a rare cutaneous melanocytic proliferation considered high-grade melanocytoma in the 2018 WHO Classification of Skin Tumors. Little...
Attempting to Solve the Pigmented Epithelioid Melanocytoma (PEM) Conundrum: PRKAR1A Inactivation Can Occur in Different Genetic Backgrounds (Common, Blue, and Spitz Subgroups) With Variation in Their Clinicopathologic Characteristics.
Pigmented epithelioid melanocytoma is a rare cutaneous melanocytic proliferation considered high-grade melanocytoma in the 2018 WHO Classification of Skin Tumors. Little has been reported about the associated genetic drivers in addition to BRAF and MAP2K1 mutations or PRKCA gene fusions. Here, we present a series of 21 cases of PRKAR1A -inactivated melanocytic tumors in which we could assess the associated genetic background. We identified 9 different driver genes related to the common, Spitz, blue nevi, and PRKC -fused groups. Nine cases were associated with a canonical BRAF p.V600E mutation, a hallmark of the common nevus group. They occurred mainly in young adults. All were combined (biphenotypic) cases with a variable proportion of compound nevus. The pigmented epithelioid melanocytoma component was made of thin fascicules or isolated epithelioid cells covered by a dense hyperpigmented melanophage background and was predominantly located in the upper dermis. One such case was malignant. Six cases were associated with Spitz-related genetic anomalies ranging from HRAS or MAP2K1 mutations to gene fusions involving MAP3K8 , MAP3K3 , and RET . They occurred mainly in children and young adults. Morphologically, they showed large confluent junctional nests in a hyperplastic epidermis and a fascicular dermal component of spindled and epithelioid melanocytes with a frequent wedged silhouette. Intravascular invasion was observed in 4/6 cases. Five cases were associated with canonical mutations of the blue nevus group with 4 CYSLTR2 p.L129Q and 1 GNAQ p.Q209L mutations. They were removed mainly in adults and showed a frequent junctional component with epidermal hyperplasia. The dermal component showed dense fascicules of spindled and epithelioid melanocytes predominating over melanophages. One case occurred in a PRKCA -fused tumor in an adolescent with classic morphologic features. These results could potentially shift the concept of PRKAR1A -inactivated melanocytoma, changing from a rather unified model to a more complex one, including genetic subgroup variations with clinical and morphologic specificities. The genetic background of PRKAR1A -inactivated melanocytic tumors should be systematically explored to better understand the extent and clinical behavior of these complex lesions.
Topics: Adolescent; Child; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; Genetic Background; Humans; Nevus; Nevus, Blue; Nevus, Epithelioid and Spindle Cell; Proto-Oncogene Proteins B-raf; Skin Neoplasms; Young Adult
PubMed: 35319526
DOI: 10.1097/PAS.0000000000001888 -
Anais Brasileiros de Dermatologia 2017Recurrent melanocytic nevus is a proliferation of melanocytes arising from a melanocytic nevus removed partially. Asymmetry and irregular pigmentation may lead to...
Recurrent melanocytic nevus is a proliferation of melanocytes arising from a melanocytic nevus removed partially. Asymmetry and irregular pigmentation may lead to misdiagnosis of melanoma. We report a patient presented with a lesion on the lower abdomen, which was removed by shave excision. Anatomopathological examination revealed an intradermal melanocytic nevus. Two months later, a new irregular hyperpigmented lesion appeared in the surgical scar. Histopathology of the excisional biopsy revealed a recurrent melanocytic nevus. Recurrent melanocytic nevus manifests as a scar with hyper or hypopigmented areas, linear streaking, stippled pigmented halos, and/or diffuse pigmentation patterns. Histologically, the dermoepidermal junction and the superficial dermis show melanocytic proliferation overlying the scarred area. When a pathological report of the previous lesion is not available, complete excision is the gold standard. Otherwise, regular dermoscopic monitoring is a therapeutic option. The present report emphasizes the importance of histopathological examination of the excised material - even in cases of suspected benign lesions - and warns patients about the possibility of recurrence in case of incompletely removed lesions.
Topics: Biopsy; Cell Proliferation; Dermoscopy; Female; Humans; Melanocytes; Middle Aged; Neoplasm Recurrence, Local; Nevus, Pigmented; Skin Neoplasms
PubMed: 28954104
DOI: 10.1590/abd1806-4841.20176190 -
Clinical, Cosmetic and Investigational... 2014Although common acquired melanocytic nevi are largely benign, they are probably one of the most common indications for cosmetic surgery encountered by dermatologists.... (Review)
Review
Although common acquired melanocytic nevi are largely benign, they are probably one of the most common indications for cosmetic surgery encountered by dermatologists. With recent advances, noninvasive tools can largely determine the potential for malignancy, although they cannot supplant histology. Although surgical shave excision with its myriad modifications has been in vogue for decades, the lack of an adequate histological sample, the largely blind nature of the procedure, and the possibility of recurrence are persisting issues. Pigment-specific lasers were initially used in the Q-switched mode, which was based on the thermal relaxation time of the melanocyte (size 7 μm; 1 μsec), which is not the primary target in melanocytic nevus. The cluster of nevus cells (100 μm) probably lends itself to treatment with a millisecond laser rather than a nanosecond laser. Thus, normal mode pigment-specific lasers and pulsed ablative lasers (CO2/erbium [Er]:yttrium aluminum garnet [YAG]) are more suited to treat acquired melanocytic nevi. The complexities of treating this disorder can be overcome by following a structured approach by using lasers that achieve the appropriate depth to treat the three subtypes of nevi: junctional, compound, and dermal. Thus, junctional nevi respond to Q-switched/normal mode pigment lasers, where for the compound and dermal nevi, pulsed ablative laser (CO2/Er:YAG) may be needed. If surgical excision is employed, a wide margin and proper depth must be ensured, which is skill dependent. A lifelong follow-up for recurrence and melanoma is warranted in predisposed individuals, although melanoma is decidedly uncommon in most acquired melanocytic nevi, even though histological markers may be seen on evaluation.
PubMed: 24672253
DOI: 10.2147/CCID.S57782