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Ectopic, retroperitoneal adrenocortical carcinoma in the setting of Lynch syndrome.
Wright JP, Montgomery KW, Tierney J, Gilbert J, Solórzano CC, Idrees K
(2018) Fam Cancer 17: 381-385
MeSH Terms: Adrenocortical Carcinoma, Aged, Choristoma, Colorectal Neoplasms, Hereditary Nonpolyposis, Humans, Male, MutS Homolog 2 Protein, Mutation, Retroperitoneal Neoplasms
Show Abstract · Added April 10, 2018
Adrenocortical carcinoma (ACC) is rare within the adult population. Ectopic ACC proves even rarer. This variant is formed by cortical fragments arrested during embryologic migration. ACC is also known to be associated with several genetic syndromes and has recently been linked to Lynch syndrome in 3% of cases. We present the case of a 68-year-old male with a confirmed diagnosis of Lynch syndrome secondary to a germline MSH2 mismatch-repair gene-mutation who presented with 2 months history of non-specific abdominal pain. After imaging work-up, the patient was found to have a right upper quadrant, retroperitoneal mass. Biochemical tests were without any evidence of a hormonally active process. Fine needle aspiration of the mass revealed a poorly differentiated carcinoma of unknown etiology. The lesion was resected and found to be consistent with ectopic ACC with an associated MSH2 mutation.
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9 MeSH Terms
Pediatric duodenal cancer and biallelic mismatch repair gene mutations.
Roy S, Raskin L, Raymond VM, Thibodeau SN, Mody RJ, Gruber SB
(2009) Pediatr Blood Cancer 53: 116-20
MeSH Terms: Adaptor Proteins, Signal Transducing, Adenocarcinoma, Adenosine Triphosphatases, Adolescent, Antineoplastic Combined Chemotherapy Protocols, Chemotherapy, Adjuvant, Consanguinity, DNA Mismatch Repair, DNA Repair Enzymes, DNA-Binding Proteins, Duodenal Neoplasms, Female, Germ-Line Mutation, Humans, Lymphatic Metastasis, Male, Mismatch Repair Endonuclease PMS2, MutL Protein Homolog 1, MutS Homolog 2 Protein, Nuclear Proteins, Pancreatic Neoplasms, Pedigree, Radiotherapy, Adjuvant
Show Abstract · Added March 5, 2014
Gastrointestinal malignancies are extremely rare in the pediatric population, and duodenal cancers represent an even more unusual entity. Intestinal cancers in young adults and children have been observed to be associated with functional deficiencies of the mismatch repair (MMR) system causing a cancer-predisposition syndrome. We report the case of a 16-year-old female with duodenal adenocarcinoma and past history of medulloblastoma found to have a novel germline bialleleic truncating mutation (c.[949C>T]+[949C>T]) of the PMS2 gene.
Copyright 2009 Wiley-Liss, Inc.
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1 Members
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23 MeSH Terms