Unlabelled: Mammary hamartoma is an uncommon benign lesion. The frequency of the tumor is reported between 0.04 -1.15% and it accounts for 4.8% of all benign breast tumors. The lesion may be under-diagnosed by the clinician because of the varied clinical presentation or by the pathologist, as the microscopic appearance is not distinctive. A case of left sided mammary hamartoma in a 46-year-old female who presented with a freely mobile mass is reported. A clinical diagnosis of fibroadenoma was made and lumpectomy performed. Histopathology and gross diagnosis confirmed it to be a case of mammary hamartoma. Extensive area of adenosis, focal cystic change, apocrine metaplasia and columnar cell change was noted. Identification of hamartoma is important because there are the problems of recurrence, co-existent carcinomas and association with Cowden syndrome.
Keywords: Hamartoma, fibroadenoma, apocrine, metaplasia, ductal carcinomas.
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Balkan J Med Genet
December 2024
Clinical Genetics Outpatient Clinic, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", 11070 Belgrade, Serbia.
Cowden syndrome (CS) represents a rare autosomal dominant disorder caused by mutations in the gene located on chromosome 10q23.3. This entity belongs to the PTEN hamartoma tumor syndrome (PHTS) spectrum.
View Article and Find Full Text PDFNPJ Precis Oncol
March 2025
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
PTEN hamartoma tumor syndrome (PHTS) is associated with increased lifetime risks of breast, thyroid, kidney, endometrial, and colorectal cancers, as well as melanoma (collectively, component cancers). We sought to characterize non-component cancers (NCC) in PHTS. Of 701 research participants with PHTS, 340 (49%) had cancer, with 101 (30%) having at least one NCC.
View Article and Find Full Text PDFSurg Case Rep
January 2025
Department of Surgery, School of Medicine, Teikyo University, Tokyo, Japan.
Introduction: The phosphatase and tensin homolog hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders caused by variants of the phosphatase and tensin homolog () gene, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, adult Lhermitte-Duclos disease, and autism spectrum disorders associated with macrocephaly. PHTS is characterized by hamartomas in multiple organs and is associated with an increased risk of developing malignant tumors including, breast, thyroid, endometrial, colorectal, and kidney tumors. Breast cancer is the most common malignancy associated with PHTS.
View Article and Find Full Text PDFMod Pathol
February 2025
Luma Medical Centre, Royal Square Medical Centre, Singapore, Singapore.
Fibroepithelial lesions (FELs) of the breast represent a diverse group of biphasic tumors with varying morphologies and clinical behavior. The classification of FELs is mainly based on a constellation of diagnostic criteria, and intralesional heterogeneity is not uncommon. Therefore, reporting FELs in a core needle biopsy (CNB) with limited tissue material can be challenging as not all the features may be represented for assessment.
View Article and Find Full Text PDFClin Cancer Res
February 2025
Cleveland Clinic, Cleveland, OH, United States.
Purpose: PTEN hamartoma tumour syndrome (PHTS) is an autosomal dominant cancer-predisposition and overgrowth syndrome occurring due to pathogenic germline variants in the PTEN gene, with an increased risk of both benign and malignant tumours involving the breast, colon, endometrium, thyroid, skin, and kidney. The objective of these clinical guidelines was to use the latest knowledge to generate an international consensus resource for providers, researchers, and individuals with PHTS on the best practices in the surveillance and management of cancer and overgrowth in PHTS.
Experimental Design: The International PHTS Cancer and Overgrowth Guidelines Working Group was established, comprising a core group of six international experts in the diagnosis and management of PHTS.
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