Peutz–Jeghers syndrome: a multidisciplinary approach to diagnosis based on a clinical case
T. S. Belysheva,
T. V. Nasedkina,
T. T. Valiev,
N. V. Matinyan,
O. A. Malikhova,
V. V. Semenova,
V. M. Kozlova,
T. P. Kazubskaya,
Y. V. Vishnevskaya,
S. N. Mikhailova,
S. R. Varfolomeeva https://doi.org/10.21682/2311-1267-2021-8-4-95-102
Abstract
Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant disease (genodermatosis) caused by germline mutations in STK11 gene. The article describes an algorithm for PJS diagnostics in children using a clinical case as an example. A 5-year-old female patient without any family history underwent a genetic testing because of the buccal mucosa pigmentation, which is the one of the major signs of PJS. De novo mutation in the STK11 gene was found (c.543C> G, p.N181K). Taking into account the high risk of polyposis in PJS, an endoscopic examination of the gastrointestinal tract was performed. Gastric polyps were found, including multiple hamartoma polyps, which fully met the clinical criteria of the disease.
The reported case shows an importance of multidisciplinary approach to PJS management. Multidisciplinary team should include dermatologist, clinical geneticist, endoscopist, and pediatric oncologist due to the high risk of developing malignancies as the child grows older.
About the Authors
T. S. Belysheva
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation
Russian Federation
T.S. Belysheva: Dr. of Sci. (Med.), Leading Researcher Scientific Advisory Division Research Institute of Pediatric Oncology and Hematology
115478, Moscow, Kashirskoe Shosse, 23
T. V. Nasedkina
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia
Russian Federation
Russian Federation
T.V. Nasedkina: Dr. of Sci. (Biol.), Leading Researcher Laboratory of Biological Microchips of Engelhardt Institute of Molecular Biology, Russian Academy of Sciences; Leading Researcher Dmitry Rogachev National Medical Research Center Of Pediatric Hematology, Oncology and Immunology
SPIN-code: 3741-8214
119991, GSP-1, Moscow, Vavilova St., 32
117198, Moscow, Samory Mashela St., 1
T. T. Valiev
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia; Russian Medical Academy of Continuous Professional Education, Ministry of Health of Russia
Russian Federation
Russian Federation
T.T. Valiev: Dr. of Sci. (Med.), Head of the Department of Pediatric Oncology and Hematology (Chemotherapy of Hemoblastosis) No. 1 of the Research Institute of Pediatric Oncology and Hematology at N.N. Blokhin National Medical Research Center of Oncology; Professor at the Department of Pediatric Oncology named after Academician L.A. Durnov at Russian Medical Academy of Continuing Professional Education
115478, Moscow, Kashirskoe Shosse, 23
125993, Moscow, Barrikadnaya St., Bld. 1, 2/1
N. V. Matinyan
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation
Russian Federation
N.V. Matinyan: Dr. of Sci. (Med.), Head of the Department of Anesthesiology-Resuscitation and Intensive Care Research Institute of Pediatric Oncology and Hematology
SPIN-code: 9829-6657
115478, Moscow, Kashirskoe Shosse, 23
O. A. Malikhova
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia; Russian Medical Academy of Continuous Professional Education, Ministry of Health of Russia
Russian Federation
Russian Federation
O.A. Malikhova: Dr. of Sci. (Med.), Head of the Endoscopy Department of the N.N. Trapeznikov Research Institute of Clinical Oncology at N.N. Blokhin National Medical Research Center of Oncology; Professor of the Department of Oncology and Palliative Medicine at Russian Medical Academy of Continuing Professional Education
115478, Moscow, Kashirskoe Shosse, 23
125993, Moscow, Barrikadnaya St., Bld. 1, 2/1
V. V. Semenova
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia; Engelhardt Institute of Molecular Biology, Russian Academy of Sciences; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia
Russian Federation
Russian Federation
V.V. Semenova: Geneticist Research Institute of Pediatric Oncology and Hematology of the N.N. Blokhin National Medical Research Center of Oncology; Graduate Student of the Laboratory of Biological Microchips of Engelhardt Institute of Molecular Biology, Russian Academy of Sciences; Geneticist Dmitry Rogachev National Medical Research Center Of Pediatric Hematology, Oncology and Immunology
SPIN-code: 9014-2847
115478, Moscow, Kashirskoe Shosse, 23
119991, GSP-1, Moscow, Vavilova St., 32
117198, Moscow, Samory Mashela St., 1
V. M. Kozlova
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation
Russian Federation
V.M. Kozlova: Geneticist of the Scientific Advisory Department Research Institute of Pediatric Oncology and Hematology
115478, Moscow, Kashirskoe Shosse, 23
T. P. Kazubskaya
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation
Russian Federation
Т.P. Kazubskaya: Senior Researcher Laboratory of Clinical Cytology Department of Morphological and Molecular Genetic Diagnostics of Tumors of the N.N. Trapeznikov Research Institute of Clinical Oncology
SPIN-code: 5224-5820
115478, Moscow, Kashirskoe Shosse, 23
Y. V. Vishnevskaya
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation
Russian Federation
Ya.V. Vishnevskaya: Cand. of Sci. (Med.), Pathologist Pathology Department Research Institute of Clinical Oncology
115478, Moscow, Kashirskoe Shosse, 23
S. N. Mikhailova
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation
Russian Federation
S.N. Mikhailova: Cand. of Sci. (Med.), Head of Scientific Advisory Division Research Institute of Pediatric Oncology and Hematology
115478, Moscow, Kashirskoe Shosse, 23
S. R. Varfolomeeva
N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation
Russian Federation
S.R. Varfolomeeva: Dr. of Sci. (Med.), Professor, Director of the Research Institute of Pediatric Oncology and Hematology
115478, Moscow, Kashirskoe Shosse, 23
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For citations:
Belysheva T.S., Nasedkina T.V., Valiev T.T., Matinyan N.V., Malikhova O.A., Semenova V.V., Kozlova V.M., Kazubskaya T.P., Vishnevskaya Y.V., Mikhailova S.N., Varfolomeeva S.R. Peutz–Jeghers syndrome: a multidisciplinary approach to diagnosis based on a clinical case. Russian Journal of Pediatric Hematology and Oncology. 2021;8(4):95-102. (In Russ.) https://doi.org/10.21682/2311-1267-2021-8-4-95-102
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