PMID- 35771951
OWN - NLM
STAT- MEDLINE
DCOM- 20221207
LR  - 20221207
IS  - 1876-4479 (Electronic)
IS  - 1873-9946 (Linking)
VI  - 16
IP  - 12
DP  - 2022 Dec 5
TI  - Hereditary Colorectal Cancer Syndromes and Inflammatory Bowel Diseases: an ECCO 
      CONFER Multicentre Case Series.
PG  - 1845-1852
LID - 10.1093/ecco-jcc/jjac094 [doi]
AB  - BACKGROUND: Hereditary colorectal cancer syndromes [HCCS] are rare polyposis or 
      nonpolyposis syndromes with a higher risk of developing colorectal cancer [CRC]. 
      Coexisting inflammatory bowel disease [IBD], including ulcerative colitis [UC] 
      and Crohn's disease [CD], with HCCS is exceedingly rare and presumably increases 
      the risk of early-onset CRC. METHODS: This was a multicentre case series 
      performed as a part of the European Crohn's and Colitis Organisation [ECCO] 
      Collaborative Network of Exceptionally Rare case reports [CONFER] project. 
      RESULTS: This report includes 26 patients with IBD (10 UC, 15 CD, and one with 
      IBD unclassified [IBD-U]) and concomitant HCCS. Among these 26 patients([median 
      age 33 years, interquartile range [IQR] 20-44], 15 [57.7%] were males, 24 [92.3%] 
      Caucasians, and two [7.7%] of Arab origin. HCCS was diagnosed before the IBD 
      diagnosis in 11 patients [42.3%], after diagnosis of IBD in 11 patients [42.3%], 
      and concurrently in four patients [15.4%]. Sixteen patients had Lynch syndrome, 
      seven had familial adenomatous polyposis [FAP], two had MYH-associated polyposis 
      [MAP], and one had attenuated FAP [AFAP]. The most frequent genetic mutations 
      were those of APC [n = 7] and MLH1 [n = 7]. Overall, CRC developed in 38.5% of 
      patients [n = 10]: in four patients [40%] after IBD diagnosis, in four [40%] 
      patients before IBD diagnosis, and in two patients the two conditions were 
      diagnosed simultaneously. Eighteen [69.2%] patients underwent colectomy or 
      abdominal surgery: nine patients due to CRC diagnosis, five patients preventively 
      due to the underlying HCCS, three due to the underlying HCCS and concomitant 
      active IBD disease, and one patient because of active IBD disease. One patient 
      died due to CRC. CONCLUSIONS: To date, this is the largest case series of 
      patients with IBD and HCCS. The most frequent diagnosis of HCCS associated with 
      IBD was Lynch syndrome. These data demonstrate the high malignancy rate and 
      surgical intervention rate in this IBD cohort, despite the endoscopic 
      surveillance. The optimal medical approach still needs to be addressed.
CI  - (c) The Author(s) 2022. Published by Oxford University Press on behalf of European 
      Crohn's and Colitis Organisation. All rights reserved. For permissions, please 
      email: journals.permissions@oup.com.
FAU - Barberio, Brigida
AU  - Barberio B
AD  - Department of Surgery Oncology and Gastroenterology, University of Padova, 
      Padova, Italy.
FAU - Savarino, Edoardo
AU  - Savarino E
AD  - Department of Surgery Oncology and Gastroenterology, University of Padova, 
      Padova, Italy.
FAU - Verstockt, Bram
AU  - Verstockt B
AD  - Department of Gastroenterology and Hepatology, University Hospital, Leuven, 
      Belgium.
AD  - Department of Chronic Disease and Metabolism, KU Leuven, Leuven, Belgium.
FAU - Fumery, Mathurin
AU  - Fumery M
AD  - Gastroenterology Unit, Amiens University Hospital, Amiens, France.
FAU - Pugliese, Daniela
AU  - Pugliese D
AD  - Department of Medical and Surgical Sciences, Fondazione Policlinico Universitario 
      A. Gemelli IRCCS, Rome, Italy.
FAU - Bertani, Lorenzo
AU  - Bertani L
AUID- ORCID: 0000-0001-8653-1790
AD  - Department of Surgery, Tuscany North-West ASL, Massa, Italy.
FAU - Buda, Andrea
AU  - Buda A
AD  - Department of Gastrointestinal Oncological Surgery, S. Maria del Prato- Hospital 
      Feltre, Feltre, Italy.
FAU - Dragoni, Gabriele
AU  - Dragoni G
AUID- ORCID: 0000-0001-5752-5113
AD  - Department of Gastroenterology, Careggi University Hospital, Florence, Italy.
FAU - Goren, Idan
AU  - Goren I
AUID- ORCID: 0000-0002-2162-2840
AD  - Division of Gastroenterology, Rabin Medical Centre, Petah Tikva, Israel.
FAU - Laish, Ido
AU  - Laish I
AD  - Gastroenterology Unit, Sheba Medical Centre, Tel Hashomer, Israel.
FAU - Spinelli, Antonino
AU  - Spinelli A
AD  - Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Milan, 
      Italy.
AD  - Department of Surgery, IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.
FAU - Teich, Niels
AU  - Teich N
AUID- ORCID: 0000-0002-8101-4521
AD  - Internistische Gemeinschaftspraxis fur Verdauungs- und Stoffwechselkrankheiten 
      IGVS, University Hospital of Leipzig, Leipzig, Germany.
FAU - Truyens, Marie
AU  - Truyens M
AD  - Department of Gastroenterology, Ghent University Hospital, Ghent, Belgium.
FAU - Ellul, Pierre
AU  - Ellul P
AD  - Department of Medicine, Division of Gastroenterology, Mater Dei Hospital, Msida, 
      Malta.
LA  - eng
PT  - Journal Article
PT  - Multicenter Study
PL  - England
TA  - J Crohns Colitis
JT  - Journal of Crohn's & colitis
JID - 101318676
RN  - Attenuated familial adenomatous polyposis
SB  - IM
MH  - Male
MH  - Humans
MH  - Adult
MH  - Female
MH  - *Crohn Disease/complications/diagnosis/genetics
MH  - *Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis/genetics/complications
MH  - Syndrome
MH  - *Inflammatory Bowel Diseases/complications/genetics/epidemiology
MH  - *Colitis, Ulcerative/complications/genetics/pathology
MH  - *Colorectal Neoplasms/etiology/genetics
OTO - NOTNLM
OT  - Crohn's disease
OT  - colorectal cancer
OT  - hereditary colorectal cancer syndromes
OT  - inflammatory bowel disease
OT  - ulcerative colitis
EDAT- 2022/07/01 06:00
MHDA- 2023/02/25 06:00
CRDT- 2022/06/30 14:12
PHST- 2022/07/01 06:00 [pubmed]
PHST- 2023/02/25 06:00 [medline]
PHST- 2022/06/30 14:12 [entrez]
AID - 6623590 [pii]
AID - 10.1093/ecco-jcc/jjac094 [doi]
PST - ppublish
SO  - J Crohns Colitis. 2022 Dec 5;16(12):1845-1852. doi: 10.1093/ecco-jcc/jjac094.