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Table 3 Possibly affected organs, possible pathologies, and screening recommendations for children and adolescents with PHTS (< 18 years of age)

From: PTEN hamartoma tumor syndrome in childhood and adolescence—a comprehensive review and presentation of the German pediatric guideline

Organ Possible pathologies Screening recommendation Screening frequency
Thyroid Adenoma, follicular and papillar thyroid carcinoma, goiter, autoimmune thyroid disease Thyroid ultrasound (starting with diagnosis) At least annual
(in children < 7 years of age and without nodules: every 2–3 years)
GIT Hamartomatous polyps, esophageal acanthosis, carcinoma Gastro-/colonoscopy in patients without symptoms: individual decision in childhood
Gastro-/colonoscopy in patients with symptoms (e.g., hematochesis, severe constipation, diarrhea, recurrent and severe abdominal pain): diagnostic should be planned promptly.
Regular gastro-/colonoscopy starting at age 35.
Depending on diagnostic findings and symptoms
Depending on diagnostic findings and symptoms
Every 5 years
Female breast Benign and malignant tumors of the breast Breast awareness beginning at 18 years of age
Clinical breast examination beginning at 25 years of age (or 5–10 years before youngest age of cancer diagnosis in family)
Breast MRI and mammography at age 30–35 in women (or 5–10 years before youngest age of cancer diagnosis in family)
Every month
1–2 times/year
Skin Benign and malignant tumors Dermatological exam Annual
Urogenital system Renal carcinoma (in adults)
Testicular lipomatosis/ endometrial cancer (in adults)
Abdominal ultrasound starting with diagnosis
Ultrasound of testes/uterus and ovaries beginning at 10 years of age
Every 1–2 years
CNS Developmental delay, white matter abnormality, enlarged perivascular spaces, autism spectrum disorder, cerebellar dysplastic gangliocytoma in adults, meningioma (rare cases) Psychomotor assessment
cMRI in the presence of neurological signs and symptoms
Depending on imaging/neurological phenotype