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MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots.

Abstract Sebaceous neoplasms such as adenoma, sebaceoma, and carcinoma, although sporadic in their occurrence, are clinically significant because of their association with Muir-Torre syndrome (MTS). MTS is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous neoplasms and/or keratoacanthomas and visceral malignancies. MTS is usually the result of germline mutations in the DNA mismatch repair genes MSH2 and, albeit less commonly, MLH1. Although less know, MSH6 is yet another key player. Evidence from Lynch syndrome indicates that pathogenic germline mutations in MSH6 are typically microsatellite stable and have a clinical presentation that differs from that associated with germline mutations in MSH2 and/or MLH1. Given this unique mutator phenotype of MSH6, the primary aim of this review was to underscore the clinical manifestations associated with pathogenic mutations in MSH6 in patients with MTS. As the current clinical and laboratory work-up of MTS is geared toward patients harboring a germline mutation in MSH2 and/or MLH1, an additional aim was to provide a scaffolding for the work-up of a patient presenting with an isolated germline mutation in MSH6.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title the american journal of dermatopathology
Publication Year Start




PMID- 28323777
OWN - NLM
STAT- MEDLINE
DA  - 20170321
DCOM- 20170420
LR  - 20170420
IS  - 1533-0311 (Electronic)
IS  - 0193-1091 (Linking)
VI  - 39
IP  - 4
DP  - 2017 Apr
TI  - MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots.
PG  - 239-249
LID - 10.1097/DAD.0000000000000633 [doi]
AB  - Sebaceous neoplasms such as adenoma, sebaceoma, and carcinoma, although sporadic 
      in their occurrence, are clinically significant because of their association with
      Muir-Torre syndrome (MTS). MTS is a rare autosomal dominant genodermatosis
      characterized by the occurrence of sebaceous neoplasms and/or keratoacanthomas
      and visceral malignancies. MTS is usually the result of germline mutations in the
      DNA mismatch repair genes MSH2 and, albeit less commonly, MLH1. Although less
      know, MSH6 is yet another key player. Evidence from Lynch syndrome indicates that
      pathogenic germline mutations in MSH6 are typically microsatellite stable and
      have a clinical presentation that differs from that associated with germline
      mutations in MSH2 and/or MLH1. Given this unique mutator phenotype of MSH6, the
      primary aim of this review was to underscore the clinical manifestations
      associated with pathogenic mutations in MSH6 in patients with MTS. As the current
      clinical and laboratory work-up of MTS is geared toward patients harboring a
      germline mutation in MSH2 and/or MLH1, an additional aim was to provide a
      scaffolding for the work-up of a patient presenting with an isolated germline
      mutation in MSH6.
FAU - Mahalingam, Meera
AU  - Mahalingam M
AD  - Dermatopathology Section Chief, Dermatopathology Section, Department of Pathology
      and Laboratory Medicine (113), VA Consolidated Laboratories, West Roxbury, MA.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Dermatopathol
JT  - The American Journal of dermatopathology
JID - 7911005
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (G-T mismatch-binding protein)
SB  - IM
MH  - DNA-Binding Proteins/*genetics
MH  - Germ-Line Mutation
MH  - Humans
MH  - Muir-Torre Syndrome/*diagnosis/*genetics
EDAT- 2017/03/23 06:00
MHDA- 2017/04/21 06:00
CRDT- 2017/03/22 06:00
AID - 10.1097/DAD.0000000000000633 [doi]
AID - 00000372-201704000-00001 [pii]
PST - ppublish
SO  - Am J Dermatopathol. 2017 Apr;39(4):239-249. doi: 10.1097/DAD.0000000000000633.

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