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Central precocious puberty in a toddler with hypothalamic hamartoma.
J Pediatr Endocrinol Metab
December 2024
Pediatric Endocrinology Clinic, Bilkent City Hospital, Ankara, Türkiye.
Objectives: Hypothalamic hamartoma (HH) is a rare condition that causes epilepsy and central precocious puberty (CPP) at an early age. In this report, we describe a child with CPP secondary to HH and discuss the current literature.
Case Presentation: A 26-month-old girl was brought to our hospital for evaluation of breast enlargement.
Hamartomas are rare, benign pseudotumors consisting of a mixture of ducts, lobules, fibrous stroma, and adipose tissue. Despite their benign nature, these lesions can present significant clinical challenges and may be underrecognized. A 48-year-old female presented with a progressively enlarging lump in the right breast over eight years.
View Article and Find Full Text PDFBreast hamartomas associated with epithelial atypia and malignancy: are there specific clinical, radiological or pathological features that identify at risk patients?
Breast Cancer Res Treat
December 2024
Department of Cellular Pathology, Royal London Hospital, Bart's Health NHS Trust, London, E1 2ES, UK.
Article Synopsis
- The study aimed to examine whether specific clinical, radiological, or histological features can distinguish breast hamartomas associated with atypia/malignancy from benign hamartomas without such complications.
- A review of 450 hamartomas from 2010 to 2023 revealed that only 4.2% were linked to atypia or malignancy.
- Significant findings included older average age and larger size in complex hamartomas, with MRI successfully detecting malignancy in all examined cases, underscoring a need for improved detection methods.
Hamartomatous Polyp of the Palatine Tonsil in an Adolescent: A Case Report.
J Rhinol
July 2024
Department of Otorhinolaryngology-Head and Neck Surgery, College of Medicine, Korea University, Seoul, Republic of Korea.
A hamartoma is a benign tumor that arises from the disorganized proliferation of tissue and can occur anywhere in the body. Hamartomas are notably found in the lung, skin, heart, brain, and breast, while their occurrence in the head and neck is rare. We describe a case involving a 17-year-old male patient who presented with a mass in a unilateral palatine tonsil, discovered incidentally.
View Article and Find Full Text PDFCancer and disease profiles for PTEN pathogenic variants in Japanese population.
J Hum Genet
December 2024
Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
A germline alteration in the PTEN gene causes a spectrum of disorders conceptualized as PTEN hamartoma tumor syndrome (PHTS), which show high risk of tumor development and a highly variable and complex phenotype. The diagnosis of PHTS is established in a proband by identification of a heterozygous germline PTEN pathogenic variant on molecular genetic testing. In this study, to understand more PTEN-associated clinical phenotype and PHTS in a Japanese population, we extracted 128 germline PTEN rare variants from 113,535 adult Japanese registered in Biobank Japan (BBJ), and categorized 29 pathogenic/likely pathogenic variants in 30 individuals (0.
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