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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

Annual

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

Annual

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