Tumors of female reproductive systemTumors of female reproductive systemОпухоли женской репродуктивной системы1994-40981999-8627Publishing House ABV Press123710.17650/1994-4098-2024-16-2-74-82MAMMOLOGY. CLINICAL CASEМАММОЛОГИЯ. КЛИНИЧЕСКИЙ СЛУЧАЙThere is nothing more obscure than the obvious fact: a case report of breast cancer associated with Peitz–Jeghers syndromeНет ничего более неясного, чем очевидный факт: клинический случай рака молочной железы, ассоциированного с синдромом Пейтца–Йегерсаhttps://orcid.org/0000-0002-7303-7213ZaytsevN. A.ЗайцевН. А.
Russian Federation

Nikita Andreevich Zaytsev

Build. 1, 2/1 Barrikadnaya St., Moscow 125993

Никита Андреевич Зайцев

125993 Москва, ул. Баррикадная, 2/1, стр. 1

n.zaytsev.md@yandex.ruhttps://orcid.org/0000-0002-1124-6802KolyadinaI. V.КолядинаИ. В.
Russian Federation

Build. 1, 2/1 Barrikadnaya St., Moscow 125993; 4 Akademika Oparina St., Moscow 117997

125993 Москва, ул. Баррикадная, 2/1, стр. 1; 117997 Москва, ул. Академика Опарина, 4

https://orcid.org/0000-0002-4597-172XKhokhlovaS. V.ХохловаС. В.
Russian Federation

Build. 1, 2/1 Barrikadnaya St., Moscow 125993; 4 Akademika Oparina St., Moscow 117997

125993 Москва, ул. Баррикадная, 2/1, стр. 1; 117997 Москва, ул. Академика Опарина, 4

https://orcid.org/0000-0003-0096-7126RodionovV. V.РодионовВ. В.
Russian Federation

4 Akademika Oparina St., Moscow 117997

117997 Москва, ул. Академика Опарина, 4

https://orcid.org/0000-0002-0995-1801PoddubnayaI. V.ПоддубнаяИ. В.
Russian Federation

Build. 1, 2/1 Barrikadnaya St., Moscow 125993

125993 Москва, ул. Баррикадная, 2/1, стр. 1

Russian Medical Academy of Postgraduate Education, Ministry of Health of RussiaФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава РоссииV.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of RussiaФГБУ «Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии им. акад. В.И. Кулакова» Минздрава России2907202420274822607202426072024https://ojrs.abvpress.ru/ojrs/article/view/1237

This article provides a review of studies analyzing the etiology, diagnosis, and treatment of Peitz–Jeghers syndrome, as well as the risk of cancer of different locations in patients with this genetic disorder. We report a case of Peitz–Jeghers syndrome associated with breast cancer in young women in two generations (mother and daughter). Despite specific clinical manifestations (multiple hamartomatous polyps developing in childhood and ink-black mucous pigmentation in the woman and her immediate relatives), Peitz–Jeghers syndrome was diagnosed only after breast cancer development and consultation with oncologists. This confirms the need for informing both oncologists and general practitioners about this genetic disorder.

В статье приведен обзор мировых исследований по вопросам этиологии, диагностики и лечения синдрома Пейтца– Йегерса, а также риск развития злокачественных новообразований различной локализации на фоне данной генетической аномалии. Представлен клинический случай синдрома Пейтца–Йегерса, который ассоциировался с развитием рака молочной железы в молодом возрасте в 2 поколениях (мать и дочь). Несмотря на характерную клиническую картину (множественные гамартомные полипы с манифестацией в детском возрасте и наличие кожно-слизистой пигментации у самой женщины и ее ближайших родственников), диагноз генетического заболевания был установлен только при обращении к онкологам с возникшим раком молочной железы, что подтверждает необходимость популяризации информации о данной генетической проблеме как среди онкологов, так и среди врачей общей практики.

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