PTEN Hamartoma Tumor Syndrome: A Clinical Overview

Pilarski, Robert

doi:10.3390/cancers11060844

Cited by 136 publications

(182 citation statements)

References 136 publications

(238 reference statements)

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“…PTEN hamartoma tumour syndrome (PHTS), OMIM 158350, ORPHA:306498, is caused by germline variants that affect function of the PTEN (phosphatase and tensin homologue) gene, henceforth called “pathogenic variants” (PV). It is a diverse multi-system disorder that encompasses Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome and Proteus-like syndrome, individuals with PHTS are at increased risk of breast, thyroid, renal cancer, and possibly endometrial cancer, colorectal cancer and melanoma [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

et al. 2020

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PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer, colorectal cancer and melanoma. There is no international consensus on cancer surveillance in PHTS and all current guidelines are based on expert opinion. A comprehensive literature review was undertaken and guidelines were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology, radiology, gastroenterology and general surgery, together with affected individuals and their representatives. Recommendations were put forward for surveillance for breast, thyroid and renal cancers. Limited recommendations were developed for other sites including endometrial, colon and skin. The proposed cancer surveillance recommendations for PHTS require a coordinated multidisciplinary approach and significant patient commitment. The evidence base for cancer surveillance in this guideline are limited, emphasising the need for prospective evaluation of the effectiveness of surveillance in the PHTS population.

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Section: Introductionmentioning

confidence: 99%

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

et al. 2020

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“…Regarding gastrointestinal tract hamartomas, we did not perform endoscopic examination, since there have been no reports on the onset in childhood. We examined breasts only by inspection and palpation since the possibility of breast cancer was considered to be lower for male infant patients than female (23).…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2020

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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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“…Cowden syndrome was first described in 1 family in 1963 [6]. In the Western hemisphere, the frequency of this syndrome is 1 in every 200,000 people, but it is likely to be more frequent because some cases are overlooked [1,7]. The diagnostic criteria proposed by the International Cowden Consortium (ICC) and the National Comprehensive Cancer Network (NCCN) are widely used [8].…”

Section: Discussion/conclusionmentioning

confidence: 99%

Cowden Syndrome Diagnosed by Bilateral Breast Cancer with Lhermitte-Duclos Disease: A Case Report

et al. 2020

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Cowden syndrome is extremely rare and is characterized by multiple hamartomas in various tissues, including the skin, mucous membranes, gastrointestinal tract, breast, thyroid, and brain, and has an increased risk of breast, thyroid, and uterine cancers. Here, we report a case of Cowden syndrome diagnosed following presentation with bilateral breast cancer and provide a discussion of the relevant literature. A 47-year-old woman with a tumor in her right breast was referred to our hospital. She was diagnosed with bilateral breast cancer upon imaging and underwent a bilateral mastectomy and sentinel lymph node biopsy. Previously, she had undergone total thyroidectomy to treat a thyroid tumor. Approximately 3 years later, she was diagnosed with Lhermitte-Duclos disease affecting her left cerebellar hemisphere. As her sister and mother had also been diagnosed with breast cancer, we suspected that she might have an inherited disease. Since 80% of individuals with Cowden syndrome have a mutation in the phosphatase and tension homolog (PTEN) gene, we did not perform any genetic testing. Instead, we used the syndrome's pathognomonic criteria and major criteria (breast cancer, thyroid tumor, and Lhermitte-Duclos disease) to diagnose our patient with Cowden syndrome. While treatment of Cowden syndrome is currently limited to strategies that can manage the symptoms, patients are at an increased risk of certain cancers and require regular screening to allow for early detection of disease.

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PTEN Hamartoma Tumor Syndrome: A Clinical Overview

Cited by 136 publications

References 136 publications

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

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

Cowden Syndrome Diagnosed by Bilateral Breast Cancer with Lhermitte-Duclos Disease: A Case Report

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