-
The Malaysian Journal of Pathology Apr 2024Spitz tumour with ALK rearrangement is a recently described entity and a rare tumour. The incidence of Spitz tumour was estimated at 3.63 per 100,000 persons in American... (Review)
Review
Spitz tumour with ALK rearrangement is a recently described entity and a rare tumour. The incidence of Spitz tumour was estimated at 3.63 per 100,000 persons in American paediatric population; while there is no data in Asian population. Here we reported a case of an eleven-year-old Asian boy who presented with a left shin nodule of two months' duration. The skin biopsy revealed a Spitz tumour with predominantly spindle cell morphology arranged in fascicles, vertically orientated nests and radial growth pattern. Junctional component, melanin pigment or Kamino bodies were not identified. Immunohistochemical study displayed homogenous cytoplasmic staining for ALK. Fluorescence in-situ hybridisation (FISH) analysis confirmed ALK rearrangement. Review of the literatures demonstrated that positive ALK immunohistochemistry may not correlate with ALK rearrangement. ALK-rearranged Spitz tumour confirmed with FISH analysis favour clinically benign behaviour despite atypical histomorphology or positive sentinel lymph node. Therefore, correlation of histomorphology, immunohistochemical stain and molecular study are important for the definitive diagnosis of this entity.
Topics: Humans; Male; Nevus, Epithelioid and Spindle Cell; Anaplastic Lymphoma Kinase; Child; Gene Rearrangement; Skin Neoplasms; In Situ Hybridization, Fluorescence; Immunohistochemistry; Receptor Protein-Tyrosine Kinases; Biomarkers, Tumor
PubMed: 38682850
DOI: No ID Found -
Journal of Clinical Imaging Science 2024Neural crest cells (NCCs) are transient structures in the fetal life in vertebrates, which develop at the junctional site of the non-neural and neural ectoderm, sharing...
OBJECTIVES
Neural crest cells (NCCs) are transient structures in the fetal life in vertebrates, which develop at the junctional site of the non-neural and neural ectoderm, sharing a common developmental origin for diverse diseases. After Epithelio-mesenchymal (EMT) of the NCCs within the neural tube, delamination of NCCs occurs. After delamination, the transformation of these cells into various cell lineages produces melanocytes, bones, and cartilage of the skull, cells of the enteric and peripheral nervous system. After the conversion, these cells migrate into various locations of the entire body according to the cell lineage. Abnormalities in neural crest (NC) formation and migration result in various malformations and tumors, known as neurocristopathy.
MATERIAL AND METHODS
Herein, this case series describes a single-center experience in cephalic NC disorders over the past 3 years, including 17 cases of varying composition (i.e., vascular, dysgenetic, mixed, and neoplastic forms) involving the brain and occasionally skin, eyes, and face of the patients.
RESULTS
In our study of 17 patients with cephalic NC disease, 6 (35.3%) patients had vascular form, 5 (29.4%) had dysgenetic form, 4 (23.5%) had mixed form, and 2 (11.7%) had neoplastic form. Brain involvement in the form of vascular or parenchyma or both vascular and parenchymal was seen in all of our patients (100%), skin in 6 (35.3%) patients, eye in 2 (11.7%), and face in 1 (5.9%) patient. Treatment was planned according to the various manifestations of the disease.
CONCLUSION
Neural crest diseases (NCDs) are a rare and under-recognized group of disorders in the literature and may have been under-reported due to a lack of awareness regarding the same. More such reporting may increase the repertoire of these rare disorders such that clinicians can have a high degree of suspicion leading to early detection and timely counseling and also improve preventive strategies and help in developing new drugs for these disorders or prevent them.
PubMed: 38469176
DOI: 10.25259/JCIS_87_2023 -
International Journal of Molecular... Sep 20235-Hydroxymethylcytosine (5-hmC) is an important intermediate of DNA demethylation. Hypomethylation of DNA is frequent in cancer, resulting in deregulation of 5-hmC...
5-Hydroxymethylcytosine (5-hmC) is an important intermediate of DNA demethylation. Hypomethylation of DNA is frequent in cancer, resulting in deregulation of 5-hmC levels in melanoma. However, the interpretation of the intensity and distribution of 5-hmC immunoreactivity is not very standardized, which makes its interpretation difficult. In this study, 5-hmC-stained histological slides of superficial spreading melanomas (SSM) and dysplastic compound nevi (DN) were digitized and analyzed using the digital pathology and image platform QuPath. Receiver operating characteristic/area under the curve (ROCAUC) and t-tests were performed. A -value of <0.05 was used for statistical significance, and a ROCAUC score of >0.8 was considered a "good" result. In total, 92 5-hmC-stained specimens were analyzed, including 42 SSM (45.7%) and 50 DN (54.3%). The mean of 5-hmC-positive cells/mm for the epidermis and dermo-epidermal junction and the entire lesion differed significantly between DN and SSM ( = 0.002 and = 0.006, respectively) and showed a trend towards higher immunoreactivity in the dermal component ( = 0.069). The ROCAUC of 5-hmC-positive cells of the epidermis and dermo-epidermal junction was 0.79, for the dermis 0.74, and for the entire lesion 0.76. These results show that the assessment of the epidermal with junctional expression of 5-hmC is slightly superior to dermal immunoreactivity in distinguishing between DN and SSM.
Topics: Humans; Dysplastic Nevus Syndrome; Skin Neoplasms; Melanoma; Computers; Melanoma, Cutaneous Malignant
PubMed: 37834158
DOI: 10.3390/ijms241914711 -
JAAD Case Reports Oct 2023
PubMed: 37766734
DOI: 10.1016/j.jdcr.2023.08.014 -
Dermatopathology (Basel, Switzerland) Jun 2023The recurrent nevus phenomenon represents the persistence of a nevus within a scar from a prior biopsy site, with the acquisition of clinical and histologic features...
The recurrent nevus phenomenon represents the persistence of a nevus within a scar from a prior biopsy site, with the acquisition of clinical and histologic features frequently overlapping with those of melanoma, posing relevant diagnostic challenges. Similar features are recognized in nevi that have undergone recent or chronic trauma and in sclerosing nevi. Any type of nevus may be subject to this phenomenon. Keloids are exuberant scars with an exaggerated accumulation of dense dermal collagen. Here we report a case of a 42-year-old woman with the incidental finding of an atypical melanocytic proliferation developing within a keloidal scar. The patient presented with a progressively enlarging auricular lesion three years after a piercing procedure. Upon histological examination, attentive scrutiny of the margin revealed an atypical compound melanocytic proliferation, predominantly single-celled at the junction but occasionally nested, with cytologic atypia and architectural disorder. This atypical proliferation was found emerging above a keloid. We interpreted the lesion as an atypical melanocytic lesion with features resembling the recurrent nevus phenomenon. This case raises awareness in recognizing these melanocytic lesions as benign, thereby avoiding overdiagnosis and unnecessary treatment.
PubMed: 37489452
DOI: 10.3390/dermatopathology10030028 -
Dermatopathology (Basel, Switzerland) May 2023Kissing nevus is a congenital melanocytic neoplasm arising in those parts of the body that split at some point during embryological development (i.e., eyelid; penis),...
Kissing nevus is a congenital melanocytic neoplasm arising in those parts of the body that split at some point during embryological development (i.e., eyelid; penis), resulting in two adjacent melanocytic nevi. To date, 23 cases of kissing nevus of the penis have been described, and dermatoscopic and histological findings are available in 4/23 cases. We report a dermatoscopic, histological and confocal microscopic analysis in a new case of the kissing nevus of the penis in a 57 years old man. Dermatoscopic analysis showed large globules in the central area and a peripheral pigment network; the histological examination confirmed the presence of an intradermal melanocytic nevus with minimal junctional component and congenital features. Moreover, we reported, for the first time, confocal microscopy findings in the kissing nevus of the penis, revealing the presence of dendritic cells in correspondence with the epidermis and suggesting a state of cellular activity. Considering the clinicopathological features of the lesion, a conservative approach was adopted, and a clinical follow-up was planned after six months.
PubMed: 37366797
DOI: 10.3390/dermatopathology10020022 -
Anais Brasileiros de Dermatologia 2023A lot of congenital melanocytic nevi (CMN) carry the somatic mutation in the oncogene BRAF V600E. But the detailed histopathologic characteristics and the proliferative...
BACKGROUND
A lot of congenital melanocytic nevi (CMN) carry the somatic mutation in the oncogene BRAF V600E. But the detailed histopathologic characteristics and the proliferative activity of CMN with BRAF V600E gene mutation have not been systematically documented.
OBJECTIVE
To identify the proliferative activity and histopathological features correlating them with BRAF V600E gene mutation status in CMN.
METHODS
CMN were retrospectively identified from the laboratory reporting system. Mutations were determined by Sanger sequencing. The CMN were divided into a mutant group and control group according to whether there was BRAF gene mutation and were strictly matched according to gender, age, nevus size, and location. Histopathological analysis, analysis of Ki67 expression by immunohistochemistry and laser confocal fluorescence microscopy were performed.
RESULTS
The differences in Ki67 index, the depth of nevus cell involvement and the number of nevus cell nests between the mutant group and the control group was statistically significant, with p-values of 0.041, 0.002 and 0.007, respectively. Compared with BRAF V600E negative nevi, BRAF V600E positive nevi often exhibited predominantly nested intraepidermal melanocytes, and larger junctional nests, but the difference in this data sets were not statistically significant. The number of nests (p = 0.001) was positively correlated with the proportion of Ki67 positive cells.
STUDY LIMITATIONS
A small sample of patients were included and there was no follow-up.
CONCLUSIONS
BRAF V600E gene mutations were associated with high proliferative activity and distinct histopathological features in congenital melanocytic nevi.
Topics: Humans; Child; Proto-Oncogene Proteins B-raf; Skin Neoplasms; Retrospective Studies; Ki-67 Antigen; Nevus, Pigmented; Nevus; Mutation
PubMed: 37156689
DOI: 10.1016/j.abd.2022.01.016 -
Clinical, Cosmetic and Investigational... 2023Oral melanocytic nevi are infrequent oral lesions derived from nevus cells of oral mucosa which causes focal hyperpigmentation. The most common site of occurrence of...
BACKGROUND
Oral melanocytic nevi are infrequent oral lesions derived from nevus cells of oral mucosa which causes focal hyperpigmentation. The most common site of occurrence of oral nevi is the hard palate followed by buccal mucosa and gingiva. The mean age group affected are in their 3rd and 4th decade of life and there seems to be a predilection for females. Clinically, oral nevi are usually small, well-circumscribed macules but can also present as slightly raised papules. Histologically, nevi can be classified as Junctional, Compound or Intramucosal, with intramucosal being the more common type in the oral cavity.
CASE PRESENTATION
In this paper, we report a case of intramucosal nevus in a 25-year-old female patient. The lesion presented as a gingival enlargement in the mandibular anterior region involving the marginal and attached gingiva, which is an extremely rare presentation. The clinical findings, histologic features and surgical management are presented. The patient was followed up for one year and the one year follow up revealed a small area of focal hyperpigmentation at the site of the previous lesion which is being closely monitored.
CONCLUSION
Nevi located in the mucous membrane have been documented to pose a threat of malignant transformation. Hence, all pigmented lesions of the oral cavity should be cautiously diagnosed.
PubMed: 37152717
DOI: 10.2147/CCIDE.S408425 -
Life (Basel, Switzerland) Feb 2023Melanoma incidence has continued to rise in the latest decades, and the forecast is not optimistic. Non-invasive diagnostic imaging techniques such as optical coherence...
BACKGROUND
Melanoma incidence has continued to rise in the latest decades, and the forecast is not optimistic. Non-invasive diagnostic imaging techniques such as optical coherence tomography (OCT) are largely studied; however, there is still no agreement on its use for the diagnosis of melanoma. For dermatologists, the differentiation of non-invasive (junctional nevus, compound nevus, intradermal nevus, and melanoma in-situ) versus invasive (superficial spreading melanoma and nodular melanoma) lesions is the key issue in their daily routine.
METHODS
This work performs a comparative analysis of OCT images using haematoxylin-eosin (HE) and anatomopathological features identified by a pathologist. Then, optical and textural properties are extracted from OCT images with the aim to identify subtle features that could potentially maximize the usefulness of the imaging technique in the identification of the lesion's potential invasiveness.
RESULTS
Preliminary features reveal differences discriminating melanoma in-situ from superficial spreading melanoma and also between melanoma and nevus subtypes that pose a promising baseline for further research.
CONCLUSIONS
Answering the final goal of diagnosing non-invasive versus invasive lesions with OCT does not seem feasible in the short term, but the obtained results demonstrate a step forward to achieve this.
PubMed: 36983781
DOI: 10.3390/life13030625 -
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