UEGJournal Abstracts 2021 - 359

Small intestinal
P0174
ADHERENCE TO CELIAC DIAGNOSTIC GUIDELINES: RESULTS FROM
THE GERMAN CELIAC REGISTRY (GECER)
S. Koletzko1,2
, C. Sobotzki3
S. Franzenburg3
D. Schuppan7,8
1
, M. Bloemacher3
, S. Plachta-Danielzik3
, R. di Giuseppe3
, B. Bokemeyer4,3,5
,
, S. Baas6
Medizin. Universität München Dr. v. Hauner Kinderklinik - Ped.
Gastroenterologie, Medizin. Universit, Ped. Gastroenterologie,
München, Germany, 2
School of Medicine Collegium Medicum
University of Warmia and Mazury, Department of Paediatrics,
Olsztyn, Poland, 3
Competence Network IBD, Kiel, Germany,
4Interdisciplinary Crohn Colitis Centre, Minden, Germany,
5
German Celiac Society, Stuttgart, Germany, 7
University Hospital Schleswig-Holstein, Campus Kiel, Kiel,
Germany, 6
School, Boston, United States
Contact E-Mail Address: sibylle.koletzko@med.uni-muenchen.de
Introduction: Guidelines for celiac disease (CeD) diagnosis request positive
CeD specific autoantibodies against tissue-transglutaminase (TGA) or
endomysium (EMA) and Marsh 2/3 lesions. Since 2012, the pediatric guidelines
by ESPGHAN allow diagnosis without biopsies if <18 years, TGA-IgA
>10x normal and positive EMA in 2nd
blood sample.
Aims & Methods: We aimed to analyse data from the German Celiac Registry
(GeCeR) for guideline conform diagnosis.
CeD patients with completed self-reported baseline information received
questionnaires on diagnostic work-up filled by their physicians. We divided
participants into 4 groups: CeD diagnosis as adult prior (G1) or after
(G2) 2012, and as child aged <18 years prior (G3) or after 2012 (G4) 2012.
We determined the proportion with guideline conform, non-conform or
uncertain diagnosis in relation to age and year of diagnosis.
Results: From 11/2019 - 3/2021, 3,167 participants registered and 2.281
(72%) completed questionnaires. Complete doctors´ forms were available
for 551 patients: 75% females, mean age 35.3 (2.3-88.9) years; age at
diagnosis 28.1 (1.0-89.2); year of diagnosis 2012 (1965-2020). In G4, 52/188
(27.7%) were diagnosed without biopsies. The rate of guideline conform
diagnosis improved since 2012, but in both time-periods was higher in
children than adults (Table). In 396 participants with reported TGA-IgA
results, the percentage having >10xULN decreased with age at diagnosis
from 72.6, 68.1, 58.8, 53.1, to 49.6% at ages <10, 10-20, 20-30, 30-40, >40
years, respectively.
Diagnosed as
adult/child
Year of diagnosis
(group)
n
Age at diagnosis
(range)
Year of diagnosis
(range)
Adult (>18 years)
<2012 (G1)
131
> 2012 (G2)
200
Child (<18 years)
<2012 (G3)
32
> 2012 (G4)
188
Mean age (range) 59.0 (27.4-84.0) 45.6 (19.1-88.9) 23.8 (11.1-67.7) 10.0 (2.3-23.2)
42.7 (19.2-68.2) 42.1 (18.2-89.2) 5.4 (1.3-14.0)
2003
(1978-2011)
29.8%
22.9%
47.3%
2016
(2012-2020)
Diagnosis made according to CeD guidelines*
Conform
Unclear
Not conform
60%
10%
30%
2001
(1965-2011)
68.8%
12.5%
18.8%
*G4 vs G2: p < 0.05, G3 vs G1: p < 0.05, G4 vs G3 p < 0.05, G2 vs G1 p < 0.05
7.0 (1.0-17.5)
2017
(2012-2020)
83.0%
0.5%
16.5%
Medical
University Mainz, Institute of Translational Immunology, Mainz,
Germany, 8
Beth Israel Deaconess Medical Center, Harvard Medical
Contact E-Mail Address: shigeki.f@hotmail.co.jp
Introduction: Nonampullary duodenal epithelial tumors (NADETs) are
rare gastrointestinal tumors. Although the incidence of duodenal carcinoma
has been recently increasing during the past a few decades due to
widespread application and advances of esophagogastroduodenoscopy,
optimal treatment strategy of NADET has not been established. One reason
is unclear natural history and prognosis of NADETs, and another reason
is high frequency of severe complications in endoscopic treatment.
It is thus important to understand the characteristics of NADETs, and we
have previously elucidated the relationship between immunophenotype
and clinicopathological findings of NADETs [1]. However, pathogenesis of
NADET at the molecular level remains unknown. The aim of this study is
to elucidate association between genetic features and clinicopathological
findings of NADETs.
Aims & Methods: In total, 75 NADETs were enrolled in this study and we
performed targeted DNA sequence for GNAS, KRAS, TP53 and APC genes.
The histological grade was classified into category 3 and category 4/5
based on Vienna classification, and immunophenotype was categorized
into gastric phenotype (G type), gastrointestinal phenotype (GI type), and
intestinal phenotype (I type) according to immunohistochemical staining
against MUC2, MUC5AC, MUC6, and CD10.
Results: Of 75 NADETs, GNAS, KRAS, TP53 and APC mutations were detected
in 5 (6.7%), 9 (12%), 37 (51.4%), and 66 lesions (88%), respectively. Of
66 NADETs with APC mutation, 53 lesions had c.4479 G>A in APC, which is
a synonymous mutation, and other APC mutations were observed in 25 lesions
(33.3%). Prevalence of GNAS and KRAS mutations were significantly
higher in the G type than in the GI/I type (GNAS, G type: 50% vs. GI type:
4% vs. I type: 4.4%, P = 0.027; KRAS, G type: 75% vs. GI type: 12% vs. I type:
6.7% P = 0.005). In contrast to GNAS and KRAS mutations, frequency of
TP53 mutation was significantly higher in the GI/I type than in the G type
(G type: 0% vs. GI type: 45.5% vs. I type: 60%; P = 0.049). Notably, APC mutations
excluding c.4479 G>A were more frequently identified in the category
4/5 than in the category 3 (13/26, 50% vs. 12/49, 24.5%; P = 0.039).
On the other hand, no significant differences were noted for APC c.4479
G>A between the two categories (35/49, 71.4% vs. 18/26, 69.2%; P > 0.999).
Conclusion: G-type NADETs harbor frequent GNAS and KRAS mutation,
whereas TP53 mutation is common in the NADET with intestinal character.
APC mutations were significantly associated with high-grade neoplasia
and invasive carcinoma.
References: [1] Fukusada S, Shimura T, Iwasaki H, Okuda Y, Katano T, Nishigaki
R, et al. Relationship between Immunophenotype and Clinicopathological
Findings for Superficial Nonampullary Duodenal Epithelial Tumor.
Digestion. 2021 Apr 1:1-8.
Disclosure: Nothing to disclose.
S. Fukusada1
, T. Shimura1
T. Katano1, H. Kataoka1
1
, Y. Okuda1
, H. Iwasaki1
, M. Kitagawa1
,
Nagoya City University Graduate School of Medical Sciences,
Department of Gastroenterology and Metabolism, Nagoya, Japan
,
P0175
GENE MUTATION ANALYSIS IN NONAMPULLARY DUODENAL
EPITHELIAL TUMORS
Conclusion: In spite of improvement, at least 30% of adults and 16% of
children are not diagnosed according to CeD guidelines in Germany, indicating
poor quality of care.
Disclosure: Nothing to disclose.
Vol. 9 | October 2021
359
UEGJournal Abstracts 2021

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