Carcinoma of the lower uterine segment diagnosed with Lynch syndrome based on MSH6 germline mutation: A case report

2016 ◽  
Vol 43 (2) ◽  
pp. 416-420 ◽  
Author(s):  
Masataka Adachi ◽  
Kouji Banno ◽  
Kenta Masuda ◽  
Megumi Yanokura ◽  
Moito Iijima ◽  
...  
Keyword(s):  
Case Report ◽  
Lynch Syndrome ◽  
Germline Mutation ◽  
Lower Uterine Segment

scholarly journals Synchronous endometrial and ovarian cancer in Lynch syndrome with a MSH2 germline mutation: A case report

2018 ◽  
Author(s):  
Takashi Takeda ◽  
Kouji Banno ◽  
Megumi Yanokura ◽  
Mayuka Anko ◽  
Arata Kobayashi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Case Report ◽  
Lynch Syndrome ◽  
Germline Mutation

scholarly journals Relationship of lower uterine segment cancer with Lynch syndrome: A novel case with an hMLH1 germline mutation

2012 ◽  
Vol 28 (5) ◽  
pp. 1537-1543 ◽  
Author(s):  
KENTA MASUDA ◽  
KOUJI BANNO ◽  
AKIRA HIRASAWA ◽  
MEGUMI YANOKURA ◽  
KOSUKE TSUJI ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Germline Mutation ◽  
Lower Uterine Segment ◽  
Relationship Of

scholarly journals Lynch Syndrome-Related Clear Cell Carcinoma of the Cervix: A Case Report

2018 ◽  
Vol 19 (4) ◽  
pp. 979 ◽  
Author(s):  
Kohei Nakamura ◽  
Kentaro Nakayama ◽  
Toshiko Minamoto ◽  
Tomoka Ishibashi ◽  
Kaori Ohnishi ◽  
...  
Keyword(s):  
Case Report ◽  
Lynch Syndrome ◽  
Cell Carcinoma ◽  
Clear Cell ◽  
Clear Cell Carcinoma

Multiple simultaneous head and neck cancers in Lynch syndrome: Case report and literature review

2018 ◽  
Vol 128 (12) ◽  
pp. 2759-2761 ◽  
Author(s):  
Allen L. Feng ◽  
Amanda Le ◽  
Daniel N. Johnson ◽  
Mark A. Varvares
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Lynch Syndrome ◽  
Head And Neck ◽  
Head And Neck Cancers

scholarly journals A NovelMLH1Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Yanni Zhang ◽  
Huishuang Chen ◽  
Zhiyu Peng ◽  
Santasree Banerjee ◽  
Wei Li ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Mrna Expression ◽  
Germline Mutation ◽  
Peripheral Blood ◽  
Expression Level ◽  
Onset Age ◽  
Mrna Expression Level ◽  
Increased Risk ◽  
Lynch Syndrome Family ◽  
Codon Mutation

Lynch syndrome is a genetically and clinically heterogeneous disorder; it is caused by a germline mutation in DNA mismatch repair (MMR) genes. Individuals with a heterozygous mutation in MLH1 have an increased risk for developing colorectal cancer. Here we described a 5-generation Chinese Lynch syndrome family with different severity and onset age. A novel heterozygous germline mutation (c.3G>T, p.Met1Ile) inMLH1gene was discovered by next generation sequencing. Our study also revealed by qPCR that the MLH1 mRNA expression in peripheral blood of patients in this family was remarkably lower than that of the unaffected carriers and non-carriers. The research results indicated that the mRNA expression level may provide predictive suggestions of treatment and management for carriers with the initiation codon mutation ofMLH1in this family. Further studies are undertaken in this family as well as other families with Lynch syndrome to interrogate the exact reasons affecting the MLH1 mRNA expression level and whether mRNA expression in peripheral blood could be a significant factor for early diagnosis and surveillance of Lynch syndrome.

scholarly journals Case Report: Uterine Adenosarcoma With Sarcomatous Overgrowth and Malignant Heterologous Elements

2022 ◽  
Vol 8 ◽  
Author(s):  
Yunuén I. García-Mendoza ◽  
Mario Murguia-Perez ◽  
Aldo I. Galván-Linares ◽  
Saulo Mendoza-Ramírez ◽  
Norma L. García-Salinas ◽  
...  
Keyword(s):  
Case Report ◽  
Morphological Characteristics ◽  
Endometrial Biopsy ◽  
Lower Uterine Segment ◽  
Differential Diagnoses ◽  
Pathological Examination ◽  
Surgical Specimen ◽  
Immunohistochemical Studies ◽  
Made In

A 46- year-old woman presented a uterine adenosarcoma originating in the lower uterine segment. The diagnosis was made in an endometrial biopsy and confirmed in the pathological examination of the complete surgical specimen, both identifying heterologous malignant elements. In addition, complementary immunohistochemical studies were performed. We reviewed the literature, illustrating the clinical and morphological characteristics and the differential diagnoses to be evaluated.

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