Results 201 to 210 of about 729,992 (290)

Delayed Diagnosis of Tuberous Sclerosis Complex Presenting as Abnormal Uterine Bleeding: A Case Report and Literature Review

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by the development of hamartomatous lesions in multiple organs. Although neurologic and dermatologic manifestations commonly lead to diagnosis during childhood, some patients remain undiagnosed until adulthood because of atypical presentations.
Kidus Tesfaye Bezabih   +8 more
wiley   +1 more source

Clinical Benefit of Pembrolizumab in Lynch Syndrome‐Associated Advanced Ovarian Cancer With Germline MSH6 Variant: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT This case highlights the importance of genetic evaluation during treatment in young patients with advanced ovarian cancer. Lynch syndrome caused by a germline MSH6 pathogenic variant was diagnosed during first‐line maintenance therapy, and pembrolizumab achieved a durable response in recurrent disease.
Tomomi Yokozawa   +7 more
wiley   +1 more source

Squamous Cell Carcinoma Arising in a Mature Cystic Teratoma of the Ovary Presenting With a Ruptured Sister Mary Joseph Nodule: A Rare Case Report From Northern Tanzania

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Squamous cell carcinoma arising from malignant transformation of a mature cystic teratoma is an exceptionally rare ovarian malignancy, and metastatic umbilical involvement is particularly uncommon. Diagnosis and treatment planning are challenging due to overlapping presentation with epithelial ovarian cancer, particularly in settings with ...
John Lugata   +11 more
wiley   +1 more source

A Lynch Syndrome Family With Germline MLH1 c.931A>G Showing Preserved Tumor MMR Immunostaining but MSI‐H Status: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Lynch syndrome screening may be complicated by discordant tumor testing results. We report a family carrying the germline MLH1 c.931A>G (p.Lys311Glu) variant in which both the proband and his father had colorectal tumors with retained mismatch repair protein expression by immunohistochemistry but microsatellite instability‐high status on tumor
Jingjing Cai   +6 more
wiley   +1 more source

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