Dataset Information

Early onset, multiple, bilateral fibroadenomas of the breast: a case report.

ABSTRACT:

Background

While fibroadenomas are common in the general population, affecting 10-20% of women, they are rarely early-onset, multiple, and bilateral.

Case presentation

An 18-year-old woman presented with a 6 year history of multiple, bilateral breast masses without family history of breast disease. Magnetic resonance imaging (MRI, Fig. 1) of the breasts showed innumerable, bilateral breast masses ranging in size from 0.5 to 4 cm. Two needle biopsies showed fibroadenoma. Although the patient's family history did not meet National Comprehensive Cancer Network (NCCN) guidelines for genetic testing, it was performed due to the rarity of her presentation. Genetic testing identified a pathogenic mutation in the phosphatase and tensin homolog (PTEN) gene.

Conclusions

A germline mutation in PTEN is associated with an increased risk of breast cancer and often occurs as part of Cowden Syndrome. This case highlights the importance of genetic testing in patients with unusual presentations of early-onset, bilateral, and multiple (greater than four) fibroadenomas.

SUBMITTER: Im CJ

PROVIDER: S-EPMC8061223 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:An early age at Breast Cancer (BC) onset may be a hallmark of inherited predisposition, but BRCA1/2 mutations are only found in a minority of younger BC patients. Among the others, a fraction may carry mutations in rarer BC genes, such as TP53, STK11, CDH1 and PTEN. As the identification of women harboring such mutations allows for targeted risk-management, the knowledge of associated manifestations and an accurate clinical and family history evaluation are warranted.We describe the case of a woman who developed an infiltrating ductal carcinoma of the right breast at the age of 32, a contralateral BC at age 36 and another BC of the right breast at 40. When she was 39 years-old, during a dermatological examination, mucocutaneous features suggestive of Cowden Syndrome, a disorder associated to germ-line PTEN mutations, were noticed. PTEN genetic testing revealed the novel c.71A > T (p.Asp24Val) mutation, whose deleterious effect, suggested by conservation data and in silico tools, was definitely demonstrated by the incapacity of mutant PTEN to inhibit Akt phosphorylation when used to complement PTEN-null cells. In BC tissue, despite the absence of LOH or somatic mutations of PTEN, Akt phosphorylation was markedly increased in comparison to normal tissue, thus implying additional somatic events into the deregulation of the PI3K/Akt/mTOR pathway and, presumably, into carcinogenesis. Hence, known oncogenic mutations in PIK3CA (exons 10 and 21) and AKT1 (exon 2) were screened in tumor DNA with negative results, which suggests that the responsible somatic event(s) is a different, uncommon one.This case stresses the importance of clinical/genetic assessment of early-onset BC patients in order to identify mutation carriers, who are at high risk of new events, so requiring tailored management. Moreover, it revealed a novel PTEN mutation with pathogenic effect, pointing out, however, the need for further efforts to elucidate the molecular steps of PTEN-associated carcinogenesis.