Correlative imaging of cutaneous tumors provides additional information to the standard histopathologic examination. However, the joint progress in the establishment of analytical techniques, such as Laser-Induced Breakdown Spectroscopy (LIBS) and Laser Ablation Inductively Coupled Plasma Mass Spectrometry (LA-ICP-MS) in clinical practice is still limited. Their combination provides complementary information as it is also shown in our study in terms of major biotic (Ca, Mg, and P) and trace (Cu and Zn) elements. To elucidate changes in the elemental composition in tumors, we have compiled a set of malignant tumors (Squamous Cell Carcinoma, Basal Cell Carcinoma, Malignant Melanoma, and Epithelioid Angiosarcoma), one benign tumor (Pigmented Nevus) and one healthy-skin sample. The data processing was based on a methodological pipeline involving binary image registration and affine transformation. Thus, our paper brings a feasibility study of a practical methodological concept that enables us to compare LIBS and LA-ICP-MS results despite the mutual spatial distortion of original elemental images. Moreover, we also show that LIBS could be a sufficient pre-screening method even for a larger number of samples according to the speed and reproducibility of the analyses. Whereas LA-ICP-MS could serve as a ground truth and reference technique for preselected samples.

• Klíčová slova
• Digital histopathology, LA-ICP-MS, LIBS, Numerical correlations, Skin tumor,
• MeSH
• bazocelulární karcinom diagnostické zobrazování   MeSH
• hmotnostní spektrometrie metody   MeSH
• laserová terapie MeSH
• lasery MeSH
• lidé MeSH
• melanom diagnostické zobrazování   patologie   MeSH
• nádory kůže * diagnostické zobrazování   patologie   MeSH
• pigmentový névus diagnostické zobrazování   MeSH
• spektrální analýza metody   MeSH
• spinocelulární karcinom diagnostické zobrazování   patologie   MeSH
• stopové prvky analýza   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• stopové prvky MeSH

Close relationship between melanocytes and neural cells is accepted to reflect their common derivation from the neural crest and tumors combining both elements. We present a series of 10 patients with giant congenital melanocytic nevi (CMN) in which a secondary proliferation (11 lesions) with schwannian and/or perineuriomatous differentiation developed in the course of the disease. The age of the patients (4 male and 6 female) at the time of surgery and histological assessment varied from 3 months to 57 years. Histopathologically, the following subgroups were delineated: (1) nodular/tumoriform "neurotization" in CMN, (2) diffuse neurofibroma-like proliferation within CMN, (3) plexiform neurofibroma-like proliferation within CMN, and (4) diffuse perineuriomatous (hybrid schwannomatous-perineuriomatous) differentiation in CMN. We review the pertinent literature, including the role of recently identified Schwann cell precursors which are believed to represent the nerve-associated state of neural crest-like cells that persists into later developmental stages.

• MeSH
• buněčná diferenciace * MeSH
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• nádory kůže * patologie   vrozené   MeSH
• pigmentový névus * patologie   vrozené   MeSH
• předškolní dítě MeSH
• Schwannovy buňky * patologie   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Spitz tumors represent a heterogeneous group of challenging melanocytic neoplasms, displaying a range of biological behaviors, spanning from benign lesions, Spitz nevi (SN) to Spitz melanomas (SM), with intermediate lesions in between known as atypical Spitz tumors (AST). They are histologically characterized by large epithelioid and/or spindled melanocytes arranged in fascicles or nests, often associated with characteristic epidermal hyperplasia and fibrovascular stromal changes. In the last decade, the detection of mutually exclusive structural rearrangements involving receptor tyrosine kinases ROS1, ALK, NTRK1, NTRK2, NTRK3, RET, MET, serine threonine kinases BRAF and MAP3K8, or HRAS mutation, led to a clinical, morphological and molecular based classification of Spitz tumors. The recognition of some reproducible histological features can help dermatopathologist in assessing these lesions and can provide clues to predict the underlying molecular driver. In this review, we will focus on clinical and morphological findings in molecular Spitz tumor subgroups.

• Klíčová slova
• ALK, Atypical Spitz tumor, BRAF –MAP3K8 fusion, HRAS mutation, MAP2K1 mutation, MET, NTRK1, NTRK2, NTRK3, RET, ROS1, Spitz melanoma, Spitz tumor, classification, dermoscopy-histopathology correlations, genetic alterations, histopathology, intermediate lesions, melanocytic lesions, melanocytomas, molecular driver, molecular morphological correlation, practical recommendations for diagnosis,
• MeSH
• epiteloidní a vřetenobuněčný névus * patologie   genetika   MeSH
• lidé MeSH
• melanom patologie   genetika   diagnóza   MeSH
• nádory kůže * patologie   genetika   diagnóza   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Melanocytic lesions are instable tumors, the genome of which and its changes determinate their morphology and biological properties. Intermediate lesions share histomorphological features of both, nevi and melanoma. Melanocytomas represent a group of them separated on the basis of recent molecular-biological studies. The article summarizes benign, intermediate, malignant and combined melanocytic skin lesions and offers practical recommendations for diagnosis.

• Klíčová slova
• classification, dermoscopy-histopathology correlations, genetic alterations, histopathology, intermediate lesions, melanocytic lesions, melanocytomas, practical recommendations for diagnosis,
• MeSH
• lidé MeSH
• melanom * patologie   diagnóza   MeSH
• nádory kůže * patologie   diagnóza   MeSH
• pigmentový névus * patologie   diagnóza   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Congenital divided melanocytic nevi of the upper and lower eyelid are rare pigmented changes of the eyelids. These processes are also known as "kissing nevi," "panda nevi," and "split ocular nevi," and were first described by Fuchs in 1919. About 120 cases have been described in the literature so far. Congenital melanocytic nevi are either present at birth (small nevi are already found in about 1% of neonates) or manifest predominantly during the first decade of life. These rare melanocytic changes of the eyelids should be controlled regularly, as malignant transformation can occur. The actual incidence of malignant transformation is highly variable in the literature, ranging from 2 to 40% depending on the duration of follow-up, with an average of 14% for the whole lifetime. Moreover, nevi of the eyelids may be considered cosmetically disturbing and cause functional problems. Therapeutic removal (dermabrasion, cryotherapy, laser therapy, and surgical excision with ophthalmoplastic reconstruction) is rarely medically indicated due to the low risk of malignant transformation. Removal can be performed in cases of secondary amblyopia in ptosis, compression of the lacrimal point, epiphora, or cosmetic desire. Treatment becomes necessary not only in case of suspicious manifestation or impairment of eyelid function, but it also helps to avoid possible bullying at school among children and is recommended at age 4 to 6 (before school age).

Kongenitale geteilte melanozytäre Nävi (CMN) des Ober- und Unterlids sind seltene pigmentierte Veränderungen der Augenlider. Diese Muttermale sind auch als „kissing nevi“, „panda nevi“, „split ocular nevi“ bekannt und wurden erstmals 1919 von Fuchs beschrieben. Aus der Literatur sind bisher etwa 120 solcher Fälle bekannt. CMN sind entweder seit der Geburt vorhanden (kleine Nävi finden sich bereits bei ca. 1 % der Neugeborenen), oder sie manifestieren sich überwiegend im ersten Lebensjahrzehnt. Diese seltene melanozytäre Veränderung der Augenlider sollte regelmäßig kontrolliert werden, denn gemäß der Literatur kann es zu einer malignen Entartung kommen. Die tatsächliche Inzidenz dafür ist jedoch sehr variabel und reicht von 2 bis 40 %, je nach Dauer des Follow-up, mit durchschnittlich 14 % auf die gesamte Lebensdauer. Zudem können CMN an den Augenlidern als kosmetisch störend empfunden werden und zu funktionellen Problemen des Auges führen. Eine therapeutische Entfernung mittels Dermabrasion, Kryotherapie, Laserbehandlung oder chirurgische Exzision mit ophthalmoplastischer Deckung ist aufgrund des geringen Entartungsrisikos selten medizinisch indiziert. Sie kann aber bei sekundärer Amblyopie bei Ptosis, Kompression der Puncta lacrimalia, Epiphora oder basierend auf einem kosmetischen Wunsch durchgeführt werden. Notwendig wird die Therapie hingegen bei einer suspekten Erscheinungsform oder Beeinträchtigung der Lidfunktion und um mögliche Hänseleien und grausamen Spott bei Kindern zu vermeiden.

• Klíčová slova
• Congenital divided melanocytic nevi, Malignant transformation, Nonsurgical management, Regenerative medicine, Surgical management,
• MeSH
• dítě MeSH
• epiteloidní a vřetenobuněčný névus * chirurgie   MeSH
• laserová terapie * MeSH
• lidé MeSH
• nádorová transformace buněk patologie   MeSH
• nádory kůže * chirurgie   MeSH
• novorozenec MeSH
• oční víčka chirurgie   MeSH
• pigmentový névus * chirurgie   MeSH
• předškolní dítě MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• přehledy MeSH

Spitz tumors are melanocytic neoplasms characterized by specific, mutually exclusive driver molecular events, namely genomic rearrangements involving the threonine kinase BRAF and the tyrosine kinase receptors ALK , NTRK1 , NTRK2 , NTRK3 , MET , RET , ROS1 , and MAP3K8 or less commonly, mutations in HRAS or MAP2K1 . We hereby report 5 Spitz tumors with a SQSTM1::NTRK2 fusion. All patients were woman with the ages at diagnosis ranging from 30 to 50 years. Locations included the lower extremity (n = 3), forearm, and back (one each). All the neoplasms were superficial melanocytic proliferation with a flat to dome-shaped silhouette, in which junctional spindled and polygonal dendritic melanocytes were mainly arranged as horizontal nests associated with conspicuous lentiginous involvement of the follicular epithelium. Only one case showed heavily pigmented, vertically oriented melanocytic nests resembling Reed nevus. A superficial intradermal component observed in 2 cases appeared as small nests with a back-to-back configuration. In all lesions, next-generation sequencing analysis identified a SQSTM1::NTRK2 fusion. A single case studied with fluorescence in situ hybridization for copy number changes in melanoma-related genes proved negative. No further molecular alterations were detected, including TERT-p hotspot mutations.

• MeSH
• dospělí MeSH
• epiteloidní a vřetenobuněčný névus * genetika   MeSH
• hybridizace in situ fluorescenční MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory kůže * patologie   MeSH
• protoonkogenní proteiny genetika   MeSH
• sekvestosom 1 genetika   MeSH
• tyrosinkinasové receptory genetika   MeSH
• tyrosinkinasy genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• protoonkogenní proteiny MeSH
• sekvestosom 1 MeSH
• SQSTM1 protein, human MeSH Prohlížeč
• tyrosinkinasové receptory MeSH
• tyrosinkinasy MeSH

BAP1-inactivated melanocytic tumors represent a subset of epithelioid melanocytic neoplasms resulting from biallelic inactivation of the BAP1 gene and by a driver mutation that activate the MAP kinase pathway, most commonly BRAFV600E. They occur sporadically or, less common, in the setting of BAP1 tumor predisposition syndrome caused by a BAP1 germline mutation that predisposes to several malignancies including cutaneous and uveal melanoma. To date, only few cases of BAP1-inactivated melanomas have been reported. We present a case of a 35-year-old woman presented with a melanocytic lesion microscopically composed of 3 distinct melanocytic populations, suggesting a stepwise progression model to melanoma from a conventional nevus through a melanocytoma stage. This progression was also supported from a molecular viewpoint given BRAFV600E, BAP1, and TERT-p hot spot mutations detected by targeted mutational analysis. Four atypical melanocytic lesions were removed from the patient's back, and the same A BAP1 c.856A>T, p.(Lys286Ter) mutation was detected on either tumoral or normal tissue samples. To the best of our knowledge, this is the first case of BAP1-inactivated melanoma with a documented TERT-p hot spot mutation manifesting as the first presentation of BAP1 tumor predisposition syndrome.

• MeSH
• dědičné nádorové syndromy * patologie   MeSH
• dospělí MeSH
• epiteloidní a vřetenobuněčný névus * patologie   MeSH
• lidé MeSH
• melanocyty patologie   MeSH
• melanom * patologie   MeSH
• mutace MeSH
• nádorové supresorové proteiny genetika   metabolismus   MeSH
• nádory kůže * patologie   MeSH
• thiolesterasa ubikvitinu genetika   MeSH
• zárodečné mutace MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• přehledy MeSH
• Názvy látek
• BAP1 protein, human MeSH Prohlížeč
• nádorové supresorové proteiny MeSH
• thiolesterasa ubikvitinu MeSH

Arbuscular mycorrhizal (AM) fungi can support the establishment of mycotrophic plants in new environments. However, the role of mycorrhizal symbiosis in interactions between perennial and weedy annual plants is not well understood. In our current study, we examine how widespread generalist AM fungi and soil disturbance, including disturbance of AM fungal networks (CMNs), affect the performance of two late-successional perennial plants of Central Europe, Senecio jacobaea and Crepis biennis, co-occurring with weedy annual forbs, Conyza canadensis and Erigeron annuus. Although presence of weedy annual E. annuus or C. canadensis did not affect the performance of the paired perennials, AM fungi supported perennial C. biennis in competition with weedy annual E. annuus. However, this AM-aided underpinning was independent of disturbance of CMNs. Conversely, although AM fungi benefited perennial S. jacobaea, this did not affect its competitive abilities when grown with weedy annual C. canadensis. Similarly, soil disturbance, independent of AM fungal presence, improved plant tissue P and biomass production of S. jacobaea, but not its competitive abilities. Our results show AM fungi may be advantageous for perennial plants growing in competition with weedy annual plants. Therefore, maintaining healthy soils containing an abundance of AM fungi, may encourage late successional perennial plants, potentially limiting establishment of weedy annual plant species.

• MeSH
• abúzus marihuany * MeSH
• mykorhiza * MeSH
• nádory kůže MeSH
• pigmentový névus MeSH
• plevel MeSH
• půda MeSH
• Senecio * MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• půda MeSH

BAP1-inactivated melanocytic tumor (BIMT) is a group of melanocytic neoplasms with epithelioid cell morphology molecularly characterized by the loss of function of BAP1, a tumor suppressor gene located on chromosome 3p21, and a mutually exclusive mitogenic driver mutation, more commonly BRAF. BIMTs can occur as a sporadic lesion or, less commonly, in the setting of an autosomal dominant cancer susceptibility syndrome caused by a BAP1 germline inactivating mutation. Owing to the frequent identification of remnants of a conventional nevus, BIMTs are currently classified within the group of combined melanocytic nevi. "Pure" lesions can also be observed. We studied 50 BIMTs from 36 patients. Most lesions were composed of epithelioid melanocytes of varying size and shapes, resulting extreme cytomorphological heterogeneity. Several distinctive morphological variants of multinucleated/giant cells were identified. Some hitherto underrecognized microscopic features, especially regarding nuclear characteristics included nuclear blebbing, nuclear budding, micronuclei, shadow nuclei, peculiar cytoplasmic projections (ant-bear cells) often containing micronuclei and cell-in-cell structures (entosis). In addition, there were mixed nests of conventional and BAP1-inactivated melanocytes and squeezed remnants of the original nevus. Of the 26 lesions studied, 24 yielded a BRAF mutation, while in the remaining two cases there was a RAF1 fusion. BAP1 biallelic and singe allele mutations were found in 4/22 and 16/24 neoplasms, respectively. In five patients, there was a BAP1 germline mutation. Six novel, previously unreported BAP1 mutations have been identified. BAP1 heterozygous loss was detected in 11/22 lesions. Fluorescence in situ hybridization for copy number changes revealed a related amplification of both RREB1 and MYC genes in one tumor, whereas the remaining 20 lesions studied were negative; no TERT-p mutation was found in 14 studied neoplasms. Tetraploidy was identified in 5/21 BIMTs. Of the 21 patients with available follow-up, only one child had a locoregional lymph node metastasis. Our results support a progression of BIMTs from a conventional BRAF mutated in which the original nevus is gradually replaced by epithelioid BAP1-inactivated melanocytes. Some features suggest more complex underlying pathophysiological events that need to be elucidated.

• MeSH
• dítě MeSH
• epiteloidní a vřetenobuněčný névus * genetika   MeSH
• hybridizace in situ fluorescenční MeSH
• lidé MeSH
• nádorové supresorové proteiny genetika   MeSH
• nádory kůže * genetika   patologie   MeSH
• névus * MeSH
• pigmentový névus * genetika   patologie   MeSH
• protoonkogenní proteiny B-Raf genetika   MeSH
• thiolesterasa ubikvitinu genetika   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• BAP1 protein, human MeSH Prohlížeč
• nádorové supresorové proteiny MeSH
• protoonkogenní proteiny B-Raf MeSH
• thiolesterasa ubikvitinu MeSH

Specific alterations involving MAPK genes (MAP3K8 fusions, MAP3K3 fusions) have been recently detected in a subgroup of spitzoid neoplasms that seem to constitute a distinctive clinicopathologic group, occur mostly in younger patients (median age 18 years) and present with atypical histologic features associated with frequent homozygous deletion of CDKN2A, qualifying a high proportion of them as Spitz melanoma (malignant Spitz tumor). Apart from lesions with spitzoid morphology harboring MAP3K8 or MAP3K3 fusion, a single case with MAP2K1 deletion has been identified. The authors report herein 4 melanocytic lesions with a MAP2K1 mutation, all showing similar microscopic appearances, including spitzoid cytology and dysplastic architectural features, resembling so-called SPARK nevus, suggesting that these lesions may represent another distinctive group.

• MeSH
• dospělí MeSH
• epiteloidní a vřetenobuněčný névus genetika   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• MAP kinasa-kinasa 1 genetika   MeSH
• melanom genetika   patologie   MeSH
• nádory kůže genetika   patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• MAP kinasa-kinasa 1 MeSH
• MAP2K1 protein, human MeSH Prohlížeč