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

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.

SUBMITTER: Yotsumoto Y

PROVIDER: S-EPMC7058917 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature

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

Yotsumoto Yuka Y Harada Atsuko A Tsugawa Jiro J Ikura Yoshihiro Y Utsunomiya Hidetsuna H Miyatake Satoko S Matsumoto Naomichi N Kanemura Yonehiro Y Hashimoto-Tamaoki Tomoko T

Molecular and clinical oncology 20200127 4

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 rap ...[more]

PMID: 32190315

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Project description:Introductionand importance: Retrorectal cystic hamartoma (RCH) is a rare congenital lesion of the presacral space, which is part of the vestigial cystic tumors often benign and predominantly in women. Generally asymptomatic, the appearance of symptoms such as pain or neurological disorders should raise suspicion of degeneration.Case presentationWe report an unusual observation of a 62-year-old patient admitted for perineal pain evolving for 2 months associated with tenesma and chronic constipation. The digital rectal examination found a posterior bulge at 4 cm from the anal margin, without intraluminal lesion. Rectosigmoidoscopy had noted posterior extrinsic compression but no rectal tumor. Pelvic CT and MRI had shown a solidocystic formation of the retro-rectal and presacral spaces, related to an enteric cyst. The operation was performed by abdominal approach and the surgical exploration had found a bilobed cystic formation. The cystic mass was removed and the anatomopathological examination concluded that it was a cystic hamartoma with no sign of malignancy.Clinical discussionRetrorectal tumors develop in the space bounded anteriorly by the propria fascia of the rectum and posteriorly by the presacral fascia overlying the sacrum. Common in children and then often malignant, inversely, in adults, they are rare and most often benign tumors. They are generally asymptomatic with a predominance of females, unlike our observation where the patient was male with a symptomatology dominated by perineal pain and constipation. The discovery is incidental in the majority of cases, however, in some cases, these cysts may be revealed by complications. The lesion can be explored by transrectal or suprapubic ultrasound, MRI and CT scan. Rectoscopy and fistulography may complete the exploration in case of diagnostic doubt. The resection must be thorough and in monobloc because of the risk of recurrence and the approach depends on the location and the size of the lesion.ConclusionRCH is a rare benign lesion whose morphological characteristics seem quite stereotyped. A detailed postoperative anatomopathological examination allows the diagnosis to be made and, above all, to look for a site of malignant transformation. This is why a complete surgical removal is necessary to prevent recurrence.

Dataset Information

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

Publications

Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with <i>PTEN</i> hamartoma tumor syndrome: A case report.

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