Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report
| Autor: | Yoshihiro Ikura, Tomoko Hashimoto-Tamaoki, Jiro Tsugawa, Yuka Yotsumoto, Hidetsuna Utsunomiya, Satoko Miyatake, Yonehiro Kanemura, Naomichi Matsumoto, Atsuko Harada |
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| Rok vydání: | 2020 |
| Předmět: |
Cancer Research
Pathology medicine.medical_specialty biology business.industry Macrocephaly Cancer Cowden syndrome Lipoma medicine.disease 03 medical and health sciences 0302 clinical medicine Germline mutation Oncology 030220 oncology & carcinogenesis medicine biology.protein PTEN 030211 gastroenterology & hepatology Subcutaneous lipoma medicine.symptom Psychomotor disorder business |
| Zdroj: | Molecular and Clinical Oncology. |
| ISSN: | 2049-9469 2049-9450 |
| DOI: | 10.3892/mco.2020.1988 |
| Popis: | A heterozygous loss-of-function mutation of the PTEN gene, one of the tumor suppressor genes, causes a wide variety of disorders, ranging from macrocephaly/autism syndrome to PTEN hamartoma tumor syndrome, including Cowden disease that causes thyroid and breast cancer mainly in the adolescence and young adult generation. An 8-month-old male infant with simple macrocephaly developed a cafe-au-lait spot and two subcutaneous tumors at the age of 1 year. One of the tumors developed rapidly was resected at the age of 1 year and 9 months and identified as benign lipoma. From the age of 2 years, the patient often threw a tantrum. At the age of 2 years and 9 months, a pathogenic germline mutation was identified in the PTEN gene (NM_000314.7), c.195C>A, p.Y65* in the form of a heterozygous germline variant. Developmental delay was noted but no tumors were found in the thyroid gland and breasts. Immunohistochemistry for PTEN in the resected lipoma demonstrated that the PTEN expression pattern was similar to that in a subcutaneous adipose tissue from a normal subject, suggesting that two-hit was not likely involved in the rapid growth of this lipoma. At the age of 5 years, the patient was diagnosed with autism spectrum disorders with moderate developmental delay. A long-term follow-up is underway to examine developmental changes in psychomotor disorders and possible tumor formation. |
| Databáze: | OpenAIRE |
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