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Systemic Diseases and the Skin
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Jana Kazandjieva, Razvigor Darlenski, Nikolai Tsankov
Differential diagnosis: Other syndromes to be considered are Bannayan-Riley Ruvalcaba syndrome (childhood onset, cutaneous lipomas, macrocephaly, intestinal polyps, developmental delay), Laugier-Hunziker syndrome (hereditary pigmentary disorder characterized by a unique expression of pigmentation over the mucosal, nail, and acral sites), and Cowden Syndrome (multiple hamartoma syndrome with mucocutaneous lesions and macrocephaly, associated with an increased risk of breast, thyroid, and endometrial cancers).
Pediatric Central Nervous System Tumors as Phenotypic Manifestation of Cancer Predisposition Syndromes
Published in David A. Walker, Giorgio Perilongo, Roger E. Taylor, Ian F. Pollack, Brain and Spinal Tumors of Childhood, 2020
Giorgio Perilongo, Irene Toldo, Stefano Sartori
Dysplastic cerebellar gangliocytoma is a benign cerebellar neoplasm typically arising in young adults, rarely in children.74 This exquisitely rare pediatric neoplasm is usually seen in patients with Cowden syndrome or multiple hamartoma syndrome. Cowden syndrome is an autosomal-dominant inherited condition characterized by the presence of multiple papillomatous lesions, and multiple hamartomas which predispose affected patients to a high risk of developing follicular thyroid, breast, and endometrial cancers. Macrocephaly is considered potential clinical stigmata of Cowden syndrome. It has been linked to a germline mutation of the PTEN gene located at the 10q23 locus. The PTEN gene product is a negative regulator in the phosphatidylinositol-3-kinase protein kinase (PI3K-AKT) which targets the rapamycin (mTOR) signaling pathway.74,75
Breast Surgery
Published in Tjun Tang, Elizabeth O'Riordan, Stewart Walsh, Cracking the Intercollegiate General Surgery FRCS Viva, 2020
Gaural Patel, Lucy Kate Satherley, Animesh JK Patel, Georgina SA Phillips
Cowden syndrome Due to a mutation in PTEN or SEC23B genes, which regulate cell growthLifetime risk of breast cancer is up to 85%
Sociodemographic predictors of endometrial cancer mortality in South Africa (1997 to 2015): a case-control study
Published in Journal of Obstetrics and Gynaecology, 2022
Adebukola I. Ewuola, Gbenga Olorunfemi, Julian Q. Mthombeni
The pathophysiology of endometrial cancer is multi-factorial. However, the key aetiology is chronic excessive unopposed action of oestrogen on the uterine endometrium. Common risk factors of endometrial cancer include obesity, early menarche, late menopause, advanced age, and some genetic predisposition such as Lynch syndrome and Cowden syndrome (Kumar et al. 2014). While most studies have focussed on the risk factor for the incidence, few have evaluated the risk factor for the mortality of endometrial cancer (Brüggmann et al. 2020). Although, South Africa currently has national cancer control programs for breast (National Department of Health 2017a) and cervical cancer (National Department of Health, 2017 b), there is no national cancer control guideline for endometrial cancer. This study therefore evaluates the socio-demographic risk factors of mortality from endometrial cancer as compared to death from other cancers among South African women from 1997 to 2015. The result from this study will contribute to evidence for designing an endometrial cancer control program in the country.
Role of immune checkpoint inhibitors in the treatment of colorectal cancer: focus on nivolumab
Published in Expert Opinion on Biological Therapy, 2019
Alexandre A. Jácome, Cathy Eng
Germline mutations in one of the several MMR genes occur in Lynch syndrome, also called hereditary nonpolyposis CRC (HNPCC) [65]. The other inherited patterns of CRC are not involved with MMR genes. These are involved with APC gene, and form the polyposis syndromes: familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), and the hamartomatous polyposis syndromes (Peutz-Jeghers, juvenile polyposis, Cowden syndrome) [66]. A less understood pattern is familial CRC, estimated to be present in 25% of patients [67]. These patients have family history of CRC, but they do not have an inherited identified genetic mutation, and do not have a pattern consistent with one of the inherited syndromes.