title: Jejunitis and brown bowel syndrome with multifocal carcinogenesis of the small bowel.
abstract: This is the first report describing a case where prolonged, severe malabsorption from brown bowel syndrome progressed to multifocally spread small bowel adenocarcinoma. This case involves a female patient who was initially diagnosed with chronic jejunitis associated with primary diffuse lymphangiectasia at the age of 26 years. The course of the disease was clinically, endoscopically, and histologically followed for 21 years until her death at the age 47 due to multifocal, metastasizing adenocarcinoma of the small bowel. Multiple lipofuscin deposits (so-called brown bowel syndrome) and severe jejunitis were observed microscopically, and sections of the small bowel showed dense lymphoplasmacytic infiltration of the lamina propria as well as blocked lymphatic vessels. After several decades, multifocal nests of adenocarcinoma cells and extensive, flat, neoplastic mucosal proliferations were found only in the small bowel, along with a loss of the mismatch repair protein MLH1 as a long-term consequence of chronic jejunitis with malabsorption. No evidence was found for hereditary nonpolyposis colon carcinoma syndrome. This article demonstrates for the first time multifocal carcinogenesis in the small bowel in a malabsorption syndrome in an enteritis-dysplasia-carcinoma sequence.
authors.affiliation: Martin Raithel, Alexander F Hagel, Heinz Albrecht, Thomas de Rossi, Eckhart G Hahn, Department of Medicine 1, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen D-91054, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Raithel
authors.affiliation: Martin Raithel, Alexander F Hagel, Heinz Albrecht, Thomas de Rossi, Eckhart G Hahn, Department of Medicine 1, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen D-91054, Germany.
authors.forename: Tilman T
authors.initials: TT
authors.lastname: Rau
authors.affiliation: Martin Raithel, Alexander F Hagel, Heinz Albrecht, Thomas de Rossi, Eckhart G Hahn, Department of Medicine 1, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen D-91054, Germany.
authors.forename: Alexander F
authors.initials: AF
authors.lastname: Hagel
authors.affiliation: Martin Raithel, Alexander F Hagel, Heinz Albrecht, Thomas de Rossi, Eckhart G Hahn, Department of Medicine 1, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen D-91054, Germany.
authors.forename: Heinz
authors.initials: H
authors.lastname: Albrecht
authors.affiliation: Martin Raithel, Alexander F Hagel, Heinz Albrecht, Thomas de Rossi, Eckhart G Hahn, Department of Medicine 1, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen D-91054, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: de Rossi
authors.affiliation: Martin Raithel, Alexander F Hagel, Heinz Albrecht, Thomas de Rossi, Eckhart G Hahn, Department of Medicine 1, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen D-91054, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Kirchner
authors.affiliation: Martin Raithel, Alexander F Hagel, Heinz Albrecht, Thomas de Rossi, Eckhart G Hahn, Department of Medicine 1, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen D-91054, Germany.
authors.forename: Eckhart G
authors.initials: EG
authors.lastname: Hahn
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000032:analysis; D000230:Adenocarcinoma / Q000737:chemistry / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D001344:Autopsy; D014408:Biomarkers, Tumor / Q000032:analysis; D001706:Biopsy; D002471:Cell Transformation, Neoplastic / Q000737:chemistry / Q000473:pathology; D002908:Chronic Disease; D018450:Disease Progression; D016099:Endoscopy, Gastrointestinal; D004751:Enteritis / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007414:Intestinal Neoplasms / Q000737:chemistry / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D007579:Jejunal Diseases / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D008062:Lipofuscin / Q000032:analysis; D008201:Lymphangiectasis, Intestinal / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D008286:Malabsorption Syndromes / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism / Q000628:therapy; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D009378:Neoplasms, Multiple Primary; D009687:Nuclear Proteins / Q000032:analysis; D012720:Severity of Illness Index; D013997:Time Factors
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D014408:Biomarkers, Tumor; D008062:Lipofuscin; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1
keywords: Brown bowel syndrome; Carcinogenesis of the small bowel; Enteritis-dysplasia-carcinoma sequence; Malabsorption