Background A giant congenital melanocytic nevus (GCMN) is found in 0.1% of live-born infants. If present, the lesion has a chance of about 6% to develop into malignant melanoma. Both children and adults can be affected by malignant melanoma arising in a giant congenital nevus. Up to 95% of GCMNs harbor NRAS mutations, and mutations in the BRAF , MC1R , TP53 , and GNAQ genes have also been described. The individualization of therapy is required, but diagnostic and prognostic criteria remain controversial. Case presentations We report two cases: 1) melanoma arising in a giant congenital nevus during the first month of life complicated with neurocutaneous melanosis (NCM), and 2) melanoma arising in a giant congenital nevus during the first 6 months of life. Pathology, immunohistochemistry, and genetic analyses of tumor tissue were performed. The first case revealed only a non-pathogenic P72R polymorphism of the TP53 gene in the homozygote condition. For the second case, a Q61K mutation was detected in the NRAS gene. Conclusion Malignant melanoma associated with GCMN is rare and therefore poorly understood. Outcomes have been linked to the stage at diagnosis, but no additional pathological prognostic factors have been identified. The most frequent genetic event in giant CMNs is NRAS mutations, which was discovered in one of our cases. To accumulate evidence to improve disease prognosis and outcomes, children with congenital melanocytic nevus should be included in a systemic follow-up study from birth.
Target inhibitors are used for melanoma treatment, and their effectiveness depends on the tumor genotype. We developed a diagnostic biochip for the detection of 39 clinically relevant somatic mutations in the BRAF, NRAS, KIT, GNAQ, GNA11, MAP2K1 and MAP2K2 genes.We used multiplex locked nucleic acid (LNA) PCR clamp for the preferable amplification of mutated over wild type DNA. The amplified fragments were labeled via the incorporation of fluorescently labeled dUTP during PCR and were hybridized with specific oligonucleotides immobilized on a biochip. This approach could detect 0.5% of mutated DNA in the sample analyzed. The method was validated on 253 clinical samples and six melanoma cell lines.Among 253 melanomas, 129 (51.0%) BRAF, 45 (17.8%) NRAS, 6 (2.4%) KIT, 4 (1.6%) GNAQ, 2 (0.8%) GNA11, 2 (0.8%) MAP2K1 and no MAP2K2 gene mutations were detected by the biochip assay. The results were compared with Sanger sequencing, next generation sequencing and ARMS/Scorpion real-time PCR. The specimens with discordant results were subjected to LNA PCR clamp followed by sequencing. The results of this analysis were predominantly identical to the results obtained by the biochip assay. Infrequently, we identified rare somatic mutations.In the present study we demonstrate that the biochip-based assay can effectively detect somatic mutations in approximately 70% of melanoma patients, who may require specific targeted therapy.
The aim of the study is to find the best approaches to the treatment of infantile hemangiomas (IH). Materials and methods of research: the experience of treatment of pediatric patients with IH of various localization is presented, which was carried out according to the protocol elaborated by the authors. Systemic therapy with propranolol, local therapy, laser therapy were used in the complex of treatment. The age of patients at the beginning of therapy ranged from 1 month up to 4,5 years. Results: in all cases, patients with propranolol treatment showed a quick and stable effect. Even at the time of the selection of the dose of the drug, IH patients began to involute, became paler, less tense. The thickness of the soft tissues in the IH area decreased by 65% compared to the baseline, the number of functioning vessels decreased by 86%. The maximum effect was achieved within the first 6 months from the start of therapy. Clinical case report – a 2,5-year-old child with extensive hemangioma of the right buttock. There was a complex treatment with propranolol, local therapy, laser therapy. The general course of treatment with propranolol was 2 years 8 months. The total number of laser interventions was 6 with the overall effect in the form of maximum regression of residual clinical manifestations of IH. A positive clinical and ultrasound picture was noted, indicating a pronounced involution of IH, and a gradual withdrawal of propranolol was started. Conclusion: the effectiveness of a comprehensive interdisciplinary approach to the treatment of extensive complicated IH was demonstrated with the participation of specialists of various disciplines: pediatricians, cardiologists, surgeons, specialists in functional and ultrasound diagnostics, specialists in laser therapy, endocrinologists in a severe premature baby with a large number of somatic problems. The clinical treatment algorithm developed and implemented for patients with IH makes it possible to avoid more aggressive methods of treatment of this pathology and to improve the quality of life of this category of patients. On the basis on the results obtained, indications for laser therapy with a selective pulsed laser were formulated.
Key words: basal-cell carcinoma, carcinoma of the head and neck, KuradermБазально-клеточный рак кожи (БКРК) является одним из наиболее распространенных онкологических диагнозов, составляя 12,6 % от всех злокачественных новообразований в Российской Федерации и наиболее частым вариантом (75-97 %) немеланоцитарных зло-качественных эпителиальных опухолей кожи, поража-ет преимущественно лиц старшего и пожилого возрас-та [1,2]. Вместе с тем данный вид злокачественных опухолей рассматривается онкологами как заболевание с крайне благоприятным прогнозом, без затруднений поддающееся радикальному лечению. Хорошо извест-но, что в типичных случаях БКРК имеет малоагрессив-ное поведение -обладает медленным ростом, крайне низким индексом регионарного и отдаленного мета-стазирования, чаще всего локализуется на коже лица и других открытых участках кожи, что способствует раннему выявлению, а в арсенале специалистов име-ется достаточное число методов радикального воздей-ствия (криодеструкция, эксцизионная хирургия, близ-кофокусная лучевая терапия, электро-и лазерная деструкция, фотодинамическая терапия).Тем не менее узким специалистам по лечению опу-холей головы и шеи, онкодерматологам приходится сталкиваться с клиническими ситуациями, когда при-менение стандартных лечебных подходов затруднено или исключено. Чаще всего ограничения в возмож-ности применить тот или иной способ лечения БКРК возникают по следующим причинам:-мультифокальное поражение исключает одно-моментное радикальное лечебное воздействие на все очаги опухоли;-распространенные по площади опухоли зани-мают несколько анатомических зон (например, при педжетоидном варианте БКРК);-поражение затрагивает эстетически значимые об-ласти с анатомически сложным рельефом (ушная ракови-
Меланома кожи у детей встречается очень редко и по ряду характеристик отличается от меланомы кожи у взрослых. Ранняя диагностика этой высокозлокачественной опухоли является главным условием успешного лечения. При определении заболевания у детей обычно используют те же методы, что и у взрослых. Адекватность такого подхода требует проверки. Цель исследования-описание процедур постановки диагноза для крупного врожденного пигментного новообразования кожи у ребенка. Описание клинического случая врожденной опухоли в области лучезапястного сустава у девочки 5 мес. По месту жительства было высказано предположение о гемангиоме. При диагностике в НИИ детской онкологии и гематологии НМИЦ онкологии им. Н. Н. Блохина проведены ультразвуковое исследование, магнитно-резонансная томография, трепанобиопсия, открытая биопсия. Материалы последней исследованы гистологически на препаратах, окрашенных гематоксилином и эозином, и иммуногистохимически путем детекции индикаторов пролиферации клеток, антигенов меланоцитарного ряда дифференцировки, белков, используемых как маркеры собственно меланомы, антигенов тканевой совместимости. Сделано заключение: узловая пигментная меланома кожи. Проведено иссечение опухоли. Безрецидивный период на момент подготовки сообщения-12 мес. Заключение. Описаны процедуры диагностики и лечения 5-месячной девочки с врожденным пигментным новообразованием кожи в области лучезапястного сустава. В процессе диагностики использованы подходы, применяемые при выявлении более частой и лучше изученной меланомы кожи у взрослых. Для подтверждения адекватности использованных в работе методов в диагностике пигментных новообразований кожи у детей целесообразно продолжение исследований.
Genodermatoses are a heterogeneous group of hereditary diseases that are characterized by predominantly skin lesions. To date, there are more than 200 genetically determined skin diseases, representing about 35 % of all hereditary syndromes. In some cases, skin lesions may be the only manifestation of the disease, but still more often, they occur in combination with disorders of other organ systems. In many cases, genodermatoses are associated with an increased risk of malignancy which makes early detection of hereditary syndromic pathology especially important for cancer prevention.This review provides a brief description of the dermatological manifestations as well as other phenotypic features of a number of genodermatoses, their genetic nature, and the strategy of management.
Methotrexate (MTX) is one of the main chemotherapeutic agents that has determined the high effectiveness of protocols for the treatment of acute lymphoblastic leukemia and non-Hodgkin lymphomas. The reverse side of the high anti-tumor activity of MTX is the adverse reactions, which require accompanying preventive therapy. But even modern accompanying therapy in some cases does not avoid severe toxicity from the skin and mucous membranes, nervous system, kidneys, liver. MTX pharmacokinetics exhibits significant individual variability, which may be a reflection of genetic variability. Numerous pharmacogenetic studies have evaluated the effect of polymorphism of various genes involved in MTX metabolism on MTX pharmacokinetics and the development of toxic manifestations in order to improve patient outcomes and decrease drug toxicity. This review presents impact of key metabolic MTX genes (ATIC, DHFR, GGH, FPGS, MTHFR, MTR, MTRR, TYMS) and transporter proteins genes (ABCB1, ABCG2, ABCC2, ABCC4, SLC19A1, SLCO1B1) in the development of MTX side effects. Polymorphic markers in SLCO1B1 gene have the most influence with MTX pharmacokinetic.
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