Pigmented skin neoplasm in a child: сomplex case report and review of the literature
- Authors: Belysheva T..1, Nasedkina T..2, Orlova K.V.1, Vishnevskaya Y.V.1, Kletskaya I.S.3, Khestanov D.B.1, Doroshenko M.B.1, Mikhaylova S.N.1, Senderovich A..4, Emelyanova M.A.2, Abramov I.S.2, Demidov L.V.1, Aliev M.D.5
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Affiliations:
- N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation
- Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences
- Russian Children’s Clinical Hospital of Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation
- The Federal State Budgetary Institution “Central clinical hospital with polyclinic” of the Administrative Department of the President of the Russian Federation
- National Medical Research Radiological Center of the Ministry of Health of the Russian Federation
- Issue: Vol 12, No 2-3 (2020)
- Pages: 16-25
- Section: TUMORS OF THE SKIN
- Published: 05.07.2020
- URL: https://sarbon.abvpress.ru/jour/article/view/4
- DOI: https://doi.org/10.17650/2070-9781-2020-21-3-16-25
- ID: 4
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Abstract
Introduction. Skin melanoma in children is a very rare disease that differs in many aspects from skin melanoma in adults. The conventional criteria for clinical diagnostics of melanoma observed in adults are often absent in children and adolescents, making it difficult to make a diagnosis on time.
Objective. The aim of the study is to assess the clinical significance of various diagnostic criteria in the analysis of a rare case of congenital pigment skin neoplasm in a child.
Materials and methods. The clinical case of a congenital melanocytic lesion in a wrist joint area in a girl 5 months old.
During the primary diagnosis, an ultrasound examination was carried out. The tumor excision was performed with replacement of defect using moved skin flap. Histological, genetic and cytogenetic (fluorescent hybridization in situ, FISH) examination of a tumor sample was carried out.
Results. The histological examination revealed areas of cellular atypia with high mitotic activity and the presence of pathological mitoses. According to FISH results, an increase in the copy of the RREB1 gene was observed in the sample, which may indicate amplification of this chromosome region. Genetic testing revealed a Q61K mutation in the NRAS gene.
Conclusion. Despite the presence of histological features of neoplasm malignancy and ambiguous FISH results, the described case should be considered as congenital nevus with atypical proliferative nodes based on combination of clinical data (early age at the time of surgery, expansive growth pattern, multiplicity of nodes, lack of necrosis, long relapse-free period).
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About the authors
T. S. Belysheva
N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation
Author for correspondence.
ORCID iD: 0000-0001-5911-553X
24 Kashirskoe Shosse, Moscow 115478
Russian FederationT. V. Nasedkina
Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences
ORCID iD: 0000-0002-2642-4202
32 Vavilov St., Moscow, 119991
Russian FederationK. V. Orlova
N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation
ORCID iD: 0000-0002-0442-5917
24 Kashirskoe Shosse, Moscow 115478
Russian FederationY. V. Vishnevskaya
N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation
ORCID iD: 0000-0002-4066-179X
24 Kashirskoe Shosse, Moscow 115478
Russian FederationI. S. Kletskaya
Russian Children’s Clinical Hospital of Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation
ORCID iD: 0000-0002-8552-7682
117 Leninsky prosp., Moscow 119571
Russian FederationD. B. Khestanov
N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation
ORCID iD: 0000-0002-8149-254X
24 Kashirskoe Shosse, Moscow 115478
Russian FederationM. B. Doroshenko
N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation
ORCID iD: 0000-0002-5400-4539
24 Kashirskoe Shosse, Moscow 115478
Russian FederationS. N. Mikhaylova
N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation
ORCID iD: 0000-0002-9502-072X
24 Kashirskoe Shosse, Moscow 115478
Russian FederationA. I. Senderovich
The Federal State Budgetary Institution “Central clinical hospital with polyclinic” of the Administrative Department of the President of the Russian Federation
ORCID iD: 0000-0003-2213-5785
15 Marshal Tymoshenko St., 121359 Moscow
Russian FederationM. A. Emelyanova
Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences
ORCID iD: 0000-0003-3681-4308
32 Vavilov St., Moscow, 119991
Russian FederationI. S. Abramov
Engelhardt Institute of Molecular Biology of the Russian Academy of Sciences
ORCID iD: 0000-0002-6954-1564
32 Vavilov St., Moscow, 119991
Russian FederationL. V. Demidov
N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation
ORCID iD: 0000-0002-8562-6082
24 Kashirskoe Shosse, Moscow 115478
Russian FederationM. D. Aliev
National Medical Research Radiological Center of the Ministry of Health of the Russian Federation
ORCID iD: 0000-0003-2706-4138
3 2 nd Botkinskiy Proezd, 125284 Moscow
Russian FederationReferences
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