Testicular Hamartomas in a Patient With Bannayan-Riley-Ruvalcaba Syndrome

Walker, Robert N.; Murphy, Timothy J.; Wilkerson, Myra L.

doi:10.7863/jum.2008.27.8.1245

Cited by 12 publications

(5 citation statements)

References 9 publications

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“…Biopsies from four of the patients confirmed lipomas. Subsequently, multiple other cases of testicular lipomas in males with CS or BRRS have been reported [118,119,120,121,122]. Testicular lipomas are very rare in the general population in absence of testicular neoplasia [117], with Harper et al finding only one case in a Medline search from 1970 to 2001 [123].…”

Section: Benign Diseasementioning

confidence: 99%

PTEN Hamartoma Tumor Syndrome: A Clinical Overview

Pilarski

2019

Cancers

128

166

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The phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a grouping of related genetic disorders that has been linked to germline mutations in the PTEN gene. These disorders include Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome, adult Lhermitte–Duclos disease, and autism spectrum disorders associated with macrocephaly. The majority of the clinical information available on PHTS, however, is related to individuals diagnosed with CS. There is still much to be learned about this disorder, since diagnostic criteria for CS were only established in 1996, before the identification of the PTEN gene, and were based primarily on features seen in cases reported in the existing literature. More recently, however, data from several large series of patients have shown that a number of the clinical features associated with PTEN mutations are either more or less common than previously reported. In addition, we now know that only about 30–35% of patients meeting clinical diagnostic criteria for Cowden syndrome actually have a detectable PTEN mutation. Thus, our understanding of PTEN-related diseases and their management has evolved significantly over time. The United States National Comprehensive Cancer Network (NCCN) has produced and regularly updates practice guidelines which include clinical diagnostic criteria as well as guidelines for PTEN testing and management of patients with mutations. This review will summarize the overall literature on PHTS as well as recent findings which are broadening our understanding of this set of disorders.

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Section: Benign Diseasementioning

confidence: 99%

PTEN Hamartoma Tumor Syndrome: A Clinical Overview

Pilarski

2019

Cancers

128

166

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“…There is one case report of intratesticular hyperechoic lesions in a patient with Bannayan-Riley-Ruvalcaba syndrome, and these lesions were presumed to represent testicular lipomatosis because of the gray-scale US appearance ( 18 ). However, there was no confi rmation at pathologic analysis.…”

Section: Historymentioning

confidence: 99%

Case 175: Testicular Lipomatosis in Cowden Disease

Venkatanarasimha¹,

Hilmy²,

Freeman³

2011

Radiology

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“…Cowden syndrome is a genetic disease associated with multiple hamartomas and malignant neoplasms of the breast, thyroid, endometrium, and skin 1 . Bannayan-Riley-Ruvalcaba syndrome is a genetic autosomal dominant colonic hamartomatous polyposis syndrome associated with childhood macrocephaly and penile macules 2 …”

Section: Intratesticular Lesions—focalmentioning

confidence: 99%

“…1 Bannayan-Riley-Ruvalcaba syndrome is a genetic autosomal dominant colonic hamartomatous polyposis syndrome associated with childhood macrocephaly and penile macules. 2 On ultrasound (US), testicular lipomatosis is characterized by multiple intratesticular echogenic lesions of varying size, typically 1 to 6 mm, that are randomly distributed throughout both testes and do not exhibit posterior acoustic shadowing 3 (Fig. 1A).…”

Section: Intratesticular Lesions-focal Testicular Lipomatosismentioning

confidence: 99%

The Rare, the Odd, and the Atypical

Houser

Khati

2021

Ultrasound Quarterly

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Understanding a variety of scrotal diseases is essential to developing an accurate differential diagnosis and is critical in providing optimal patient care. Ultrasound is the imaging modality of choice when evaluating for scrotal pathology, with the major purpose of locating such pathology to either the testis, or epididymis, or other intrascrotal structures, as well as characterizing lesions as solid or cystic. It is generally assumed that most solid intratesticular masses are more likely malignant, whereas most extratesticular ones are benign, although some exceptions to that rule exist. This pictorial essay will focus on rare and less commonly encountered benign and malignant testicular and paratesticular pathologies, which may pose a diagnostic dilemma for interpreting radiologists and treating physicians. Knowledge of their imaging characteristics will help narrow the differential diagnosis and assist in proper patient management and care.

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Testicular Hamartomas in a Patient With Bannayan-Riley-Ruvalcaba Syndrome

Cited by 12 publications

References 9 publications

PTEN Hamartoma Tumor Syndrome: A Clinical Overview

PTEN Hamartoma Tumor Syndrome: A Clinical Overview

Case 175: Testicular Lipomatosis in Cowden Disease

The Rare, the Odd, and the Atypical

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