The Hereditary Syndromes Associated with Polyps and Development of Malignant Tumours in Children

Kazubskaya, T. P.; Belev, N F; Козлова, В. М.; Тамразов, Р. И.; Filippova, Maria; Ermilova, V. D.; Trofimov, E. I.; Кондратьева, Т. Т.

doi:10.15690/onco.v2.i4.1465

Cited by 3 publications

(9 citation statements)

References 45 publications

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“…При синдроме Пейтца-Егерса на всем протяжении желудочно-кишечного тракта регистрируют аденоматозный и гамартомный полипоз с пигментацией слизистых оболочек. Также возможны ассоциации семейного аденоматозного полипоза толстой кишки с врожденной гипертрофией пигментного эпителия сетчатки, с доброкачественными узлами в щитовидной железе и раком щитовидной железы [12]. Руководство по семейному аденоматозному полипозу (Австралия) содержит подтверждение высокого риска развития внетолстокишечных малигнизаций, включающих злокачественные новообразования двенадцатиперстной кишки, головного мозга, щитовидной железы и печени (гепатобластомы), а также возможность образования десмоидных опухолей [22].…”

Section: Discussionunclassified

“…Таким образом, клиницистам следует помнить об актуальности риска развития опухолей печени -гепатобластомы или гепатоцеллюлярного рака -у пациентов с семейным аденоматозным полипозом и их родственников. При этом злокачественное новообразование может возникнуть раньше полипов [12]. Подобные случаи описаны и ранее.…”

Section: Discussionunclassified

“…Семейный аденоматозный полипоз -это наследственный синдром с аутосомно-доминантным типом наследования, характеризующийся образованием большого числа полипов (аденом) -от 100 до нескольких тысяч -на слизистой оболочке толстой кишки с прогрессивным ростом и обязательной малигнизацией при отсутствии своевременного лечения (обычно к 40-55 годам) [11]. Встречается с частотой 1:10 000 новорожденных, преимущественно поражает женский пол (в соотношении 17:1) [12].…”

Section: обоснованиеunclassified

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Hepatocellular Carcinoma in the Adolescent With Classical Familial Adenomatous Polyposis: Clinical Case

Волгина¹,

Ганиева²,

Гарифуллина³

et al. 2020

Vopr. sovr. pediatr.

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Background. Hepatocellular carcinoma is rare disease in pediatrics, it affects mostly male adolescents aged 10–15 years. There are only 10 described cases of hepatocellular carcinoma and familial adenomatous polyposis combination.Clinical Case Description. Patient G., 16 years, visited the pediatrician with complaints on low fever episodes and abdominal pain. The abdominal ultrasound was performed. Non-homogeneous mass was revealed in the left lobe of the liver. Contrast X-ray computer tomography has revealed large pathological mass in the left lobe of the liver (atypical haemangioma? adenoma?). Adenoma phenotype was established in obtained needle biopsy material. The child has undergone the resection of the left lobe of the liver with plastic reconstruction of the left hepatic vein entry. Histological examination of the surgical specimen has confirmed the presence of hepatocellular carcinoma. Peripheral blood -fetoprotein levels remained within normal range throughout the follow-up. In past medical history: classical familial adenomatous polyposis in the mother (diagnosis has been established 3 years before the clinical events in the child). The genetic testing of APC gene (Adenomatous Poliposis Coli) was performed after detection of the tumor in the child’s liver. The pathological allele similar to that previously found in the mother has been identified.Conclusion. Timely diagnosis of familial adenomatous polyposis, risk awareness on combined course of polyposis with various malignant tumors, as well as monitoring of health condition of the child are necessary to diagnose hepatocellular carcinoma on its early stages.

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Section: Discussionunclassified

Section: обоснованиеunclassified

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Hepatocellular Carcinoma in the Adolescent With Classical Familial Adenomatous Polyposis: Clinical Case

Волгина¹,

Ганиева²,

Гарифуллина³

et al. 2020

Vopr. sovr. pediatr.

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“…Hamartoma polyposis is a heterogeneous group of diseases, which also includes juvenile polyposis syndrome, Bannayan–Riley–Ruvalcaba syndrome, and Cowden syndrome 3 . These groups of nosologies are characterised by two features: multiple polyps in any part of the GIT and the risk of developing malignant tumours of various organs 4 . The birth rate of children with PJS was from 1:25 000 to 1:280 000 cases per year; no racial or sex differences in incidence were found 4 .…”

Section: Introductionmentioning

confidence: 99%

“…These groups of nosologies are characterised by two features: multiple polyps in any part of the GIT and the risk of developing malignant tumours of various organs 4 . The birth rate of children with PJS was from 1:25 000 to 1:280 000 cases per year; no racial or sex differences in incidence were found 4 .…”

Section: Introductionmentioning

confidence: 99%

Intestinal intussusception in a child with Peutz–Jeghers syndrome: case report

Ovechkin

Awuah

Wellington

et al. 2023

Annals of Medicine &Amp; Surgery

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Introduction and importance: Peutz–Jeghers syndrome (PJS), an uncommon inherited autosomal dominant disorder, is distinguished by mucocutaneous pigmentations, many gastrointestinal hamartomatous polyps, and a higher incidence of gastrointestinal tract, genitourinary, and extracolonic malignancies. Recurrent acute intestinal obstruction, in particular intussusception in the young, is a serious sequalae of PJS. Case presentation: A clinical observation of a 5-year-old patient with a complicated course of PJS is presented. Emphasis on recurring episodes of acute abdomen, clinical diagnosis including polyp histopathology, and surgical management is emphasised. Clinical findings and investigations: While an inpatient, bloodwork demonstrated severe iron deficiency anaemia (haemoglobin 72 g/l, red blood cell 3.1×1012/l) and multiple melanin pigmentations measuring 2–4 mm in size on the lip mucosa during a physical examination. Erosive duodenopathy and polyposis of the stomach were discovered via fibroesophagogastroduodenoscopy (multiple gastric polyps 5–10 mm in size). Acute intussusception of the intestine was discovered by ultrasonography. Interventions and outcome: A mid-median laparotomy was performed alongside manual disinvagination with gut viability intact. Histopathology of excised polyps revealed smooth muscle hyperplasia and Ki67 protein (MIB-1) positivity with small intestinal hamartomatous polyps seen macroscopically. Conservative management was initiated for standard postoperative care and intestinal motility. Patient was discharged 9 days postoperatively. Relevance and impact: Based on literature data, modern ideas concerning aetiology, diagnosis, and management of patients with PJS are considered. Attention is focused on the high risk of developing cancer of various localisation in PJS, recommendations are given for cancer screening and clinical observation of patients with hereditary gastrointestinal syndromes in childhood.

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Peutz-Jeghers Syndrome: Diagnostic and Therapeutic Possibilities of Modern Intraluminal Endoscopy as Shown on Own Clinical Observations

et al. 2016

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The Hereditary Syndromes Associated with Polyps and Development of Malignant Tumours in Children

Cited by 3 publications

References 45 publications

Hepatocellular Carcinoma in the Adolescent With Classical Familial Adenomatous Polyposis: Clinical Case

Hepatocellular Carcinoma in the Adolescent With Classical Familial Adenomatous Polyposis: Clinical Case

Intestinal intussusception in a child with Peutz–Jeghers syndrome: case report

Peutz-Jeghers Syndrome: Diagnostic and Therapeutic Possibilities of Modern Intraluminal Endoscopy as Shown on Own Clinical Observations

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