Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report

Yotsumoto,Yuka; Harada,Atsuko; Tsugawa,Jiro; Ikura,Yoshihiro; Utsunomiya,Hidetsuna; Miyatake,Satoko; Matsumoto,Naomichi; Kanemura,Yonehiro; Hashimoto‑Tamaoki,Tomoko

doi:10.3892/mco.2020.1988

Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report

Authors:
- Yuka Yotsumoto
- Atsuko Harada
- Jiro Tsugawa
- Yoshihiro Ikura
- Hidetsuna Utsunomiya
- Satoko Miyatake
- Naomichi Matsumoto
- Yonehiro Kanemura
- Tomoko Hashimoto‑Tamaoki
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Affiliations: Department of Pediatrics, Takatsuki General Hospital, Takatsuki, Osaka 569‑1192, Japan, Department of Genetic Medicine, Takatsuki General Hospital, Takatsuki, Osaka 569‑1192, Japan, Department of Pediatric Surgery, Takatsuki General Hospital, Takatsuki, Osaka 569‑1192, Japan, Department of Pathology, Takatsuki General Hospital, Takatsuki, Osaka 569‑1192, Japan, Department of Pediatric Neuroradiology, Takatsuki General Hospital, Takatsuki, Osaka 569‑1192, Japan, Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236‑0004, Japan, Department of Neurosurgery, National Hospital Organization Osaka National Hospital, Osaka 540‑0006, Japan, Department of Genetic Medicine, Takatsuki General Hospital, Osaka 569‑1192, Japan
Published online on: January 27, 2020 https://doi.org/10.3892/mco.2020.1988
Pages: 329-335
Copyright: © Yotsumoto et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

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 café‑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.

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