RT Journal Article
T1 Clinical and Pathological Characterization of Lynch-Like Syndrome.
A1 Picó, María Dolores
A1 Castillejo, Adela
A1 Murcia, Óscar
A1 Giner-Calabuig, Mar
A1 Alustiza, Miren
A1 Sánchez, Ariadna
A1 Moreira, Leticia
A1 Pellise, María
A1 Castells, Antoni
A1 Carrillo-Palau, Marta
A1 Ramon Y Cajal, Teresa
A1 Gisbert-Beamud, Alexandra
A1 Llort, Gemma
A1 Yagüe, Carmen
A1 López-Fernández, Adriá
A1 Alvarez-Urturi, Cristina
A1 Cubiella, Joaquin
A1 Rivas, Laura
A1 Rodríguez-Alcalde, Daniel
A1 Herraiz, Maite
A1 Garau, Catalina
A1 Dolz, Carlos
A1 Bujanda, Luis
A1 Cid, Lucia
A1 Povés, Carmen
A1 Garzon, Marta
A1 Salces, Inmaculada
A1 Ponce, Marta
A1 Hernández-Villalba, Luís
A1 Alenda, Cristina
A1 Balaguer, Francesc
A1 Soto, Jose-Luis
A1 Jover, Rodrigo
K1 Colon Tumor
K1 Familial
K1 Genetic
K1 Polyp
K1 Risk
AB Lynch syndrome is characterized by DNA mismatch repair (MMR) deficiency. Some patients with suspected Lynch syndrome have DNA MMR deficiencies but no detectable mutations in genes that encode MMR proteins-this is called Lynch-like syndrome (LLS). There is no consensus on management of patients with LLS. We collected data from a large series of patients with LLS to identify clinical and pathology features. We collected data from a nationwide-registry of patients with colorectal cancer (CRC) in Spain. We identified patients whose colorectal tumors had loss of MSH2, MSH6, PMS2, or MLH1 (based on immunohistochemistry), without the mutation encoding V600E in BRAF (detected by real-time PCR), and/or no methylation at MLH1 (determined by methylation-specific multiplex ligation-dependent probe amplification), and no pathogenic mutations in MMR genes, BRAF, or EPCAM (determined by DNA sequencing). These patients were considered to have LLS. We collected data on demographic, clinical, and pathology features and family history of neoplasms. The χ2 test was used to analyze the association between qualitative variables, followed by the Fisher exact test and the Student t test or the Mann-Whitney test for quantitative variables. We identified 160 patients with LLS; their mean age at diagnosis of CRC was 55 years and 66 patients were female (41%). The Amsterdam I and II criteria for Lynch syndrome were fulfilled by 11% of cases and the revised Bethesda guideline criteria by 65% of cases. Of the patients with LLS, 24% were identified in universal screening. There were no proportional differences in sex, indication for colonoscopy, immunohistochemistry, pathology findings, or personal history of CRC or other Lynch syndrome-related tumors between patients who met the Amsterdam and/or Bethesda criteria for Lynch syndrome and patients identified in universal screening for Lynch syndrome, without a family history of CRC. Patients with LLS have homogeneous clinical, demographic, and pathology characteristics, regardless of family history of CRC.
YR 2019
FD 2019-06-17
LK http://hdl.handle.net/10668/14151
UL http://hdl.handle.net/10668/14151
LA en
DS RISalud
RD Apr 9, 2025