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Peutz-Jeghers syndrome [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Phenotype and clinics Skin numerous brown or bleuish mucocutaneous macules (melanin spots), especially around the orifices (mouth, including the buccal mucosa, eyes, nostrils, anus, genitalia), on the hands...; they tend to deseapear with age; (at puberty or in adulthood); Note: in patients with isolated mucocutaneous melanotic pigmentation (without ...
openaire   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

A Rare Case of Solitary Peutz Jeghers Type Hamartomatous Duodenal Polyp with Dysplasia! [PDF]

Journal of Clinical and Diagnostic Research, 2016
Solitary Peutz Jeghers (SPJ) type hamartomatous polyp is a rare and separate entity from classic Peutz Jeghers syndrome (PJS). A hamartomatous polyp without associated mucocutaneous pigmentations, any other gastrointestinal polyp or a family history of ...
Chetan Devendra Rathi, Dattatray Balasaheb Solanke, Nikita Lalitkumar Kabra, Meghraj Ananda Ingle, Prabha Dilip Sawant   +4 more
doaj   +1 more source

Germline predisposition and somatic mutational landscape in synchronous mucinous metaplasia and neoplasia of the female genital tract

Clinical and Translational Medicine, Volume 16, Issue 8, August 2026.
Synchronous mucinous metaplasia and neoplasia of the female genital tract (SMMN‐FGT) is characterised by an enrichment of pathogenic germline variants in cancer‐predisposition genes, particularly BRCA1 and other homologous recombination repair genes. Recurrent TP53 mutations are concentrated in malignant lesions, while clonal and functional analyses ...
Ying Yuan, Li Zhang, Jiongbo Liao, Bo Wang, Linghui Lu, Dongchen Chu, Yue Shi, Jiaqi Liu, Feng Zhang, Shuyan Tang, Chao Wang   +10 more
wiley   +1 more source

Endoscopic ischemic polypectomy for small intestinal polyps in a 7‐year‐old girl with juvenile polyposis syndrome

JPGN Reports, Volume 7, Issue 3, Page 471-473, August 2026.
Abstract This is the first report of endoscopic ischemic polypectomy (EIP) for small intestinal polyps in a pediatric patient with juvenile polyposis syndrome (JPS). A 7‐year‐old girl underwent double‐balloon enteroscopy, during which 17 pedunculated polyps were treated using the crossed‐clip strangulation method without complications. Ten‐month follow‐
Shingo Kurasawa, Shun Watanabe, Satoshi Ukai, Ayako Furuya, Kato Sawako, Yoshiko Nakayama   +5 more
wiley   +1 more source

Examining the Role of Artificial Intelligence in Assessment: A Comparative Study of ChatGPT and Educator‐Generated Multiple‐Choice Questions in a Dental Exam

European Journal of Dental Education, Volume 30, Issue 3, Page 881-895, August 2026.
ABSTRACT Aim To compare the item difficulty and discriminative index of multiple‐choice questions (MCQs) generated by ChatGPT with those created by dental educators, based on the performance of dental students in a real exam setting. Materials and Methods A total of 40 MCQs—20 generated by ChatGPT 4.0 and 20 by dental educators—were developed based on ...
Nezaket Ezgi Özer, Yusuf Balcı, Gaye Bölükbaşı, Betul İlhan, Pelin Güneri   +4 more
wiley   +1 more source

Optimizing Biopsy Decisions in Benign Longitudinal Melanonychia: A Dermoscopic‐Pathologic Study of Nail Matrix Nevus vs. Melanocytic Activation

Skin Research and Technology, Volume 32, Issue 8, August 2026.
ABSTRACT Background Longitudinal melanonychia (LM) is a common clinical manifestation of nail melanocytic lesions and poses diagnostic challenges in distinguishing benign melanocytic activation (MA) from melanocytic hyperplasia such as nail matrix nevus(NMN).
Qilin Sun, Zijing Du, Zhengyu Shen, Jun Chen, Xue Wang, Hui Xu, Qingqing Cen, Ke Liu   +7 more
wiley   +1 more source

Peutz-Jeghers syndrome: presentation of a patient and literature review

Zdravniški Vestnik, 2009
Introduction: Colorectal cancer carcinogenesis is a complex, long-lasting multistep process. Patients with diff erent polyposis syndromes, including Peutz-Jeghers, have signifi cantly increased risk for diff erent types of cancer.Patients and methods: In
Pavel Skok, Andreja Ocepek, Ekaterina Genslitakaya, Rajko Kavalar   +3 more
doaj  

Azoospermia, Atrophy, and Asymmetry: Unilateral Sertoli Cell Tumor as a Rare and Overlooked Cause of Male Infertility: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Sertoli cell tumors are uncommon sex‐cord stromal tumors making up < 2% of testicular tumors and have been reported to be associated with endocrine dysfunction that could compromise male fertility. Herein, we present a 34‐year‐old Pakistani male with primary infertility, azoospermia, enlargement of right testis, and contralateral severe ...
Rao Nouman Ali, Wajiha Irfan, Sohaib Irfan, Masroor Ahmed Khan, Maria Bibi, Umair Ali, Muhammad Hassaan Javaid, Christian Tague   +7 more
wiley   +1 more source

Peutz-Jeghers Syndrome: In Siblings with Palmer-Plantar Pigmentation

Journal of Indian Academy of Oral Medicine and Radiology, 2011
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by typical pigmented perioral maculesn pigmented spots in the oral mucosa and digits along with hamartomatous polyps in the gastrointestinal tract.
K V Suresh, Prashanth Shenai, Laxmikanth Chatra   +2 more
doaj   +1 more source