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- Title
Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma Transforming into Diffuse Large B-Cell Lymphoma in a Young Adult Patient with Neurofibromatosis Type 1: A Case Report.
- Authors
Kosako, Hideki; Yamashita, Yusuke; Tanaka, Ken; Mishima, Hiroyuki; Iwamoto, Ryuta; Kinoshita, Akira; Murata, Shin-ichi; Ohshima, Koichi; Yoshiura, Koh-ichiro; Sonoki, Takashi; Tamura, Shinobu
- Abstract
Background: Neurofibromatosis type 1 (NF1) is a hereditary cancer syndrome characterized by multiple café-au-lait macules on the skin. Lymphoproliferative malignancies associated with NF1 are limited, although the most common are brain tumors. Case presentation: A 22-year-old woman with NF1 was admitted due to abdominal pain and bloody diarrhea. Her laboratory data exhibited macrocytic anemia and elevated IgA levels. Image studies showed diffuse increased wall thickening in the transverse and descending colon without lymphadenopathy and hepatosplenomegaly. A colonoscopy revealed a hemorrhagic ulcerated mass. Pathological analysis of the tumor tissues confirmed IgA-expressing mucosa-associated lymphoid tissue (MALT) lymphoma with histological transformation. Moreover, whole-exome sequencing in tumor tissues and peripheral blood mononuclear cells identified a somatic frameshift mutation of the A20 gene, which represents the loss of function. The patient responded well to R-CHOP chemotherapy, but the disease relapsed after 1 year, resulting in a lethal outcome. Conclusions: MALT lymphoma in children and young adults is extremely rare and is possibly caused by acquired genetic changes. This case suggests a novel association between hereditary cancer syndrome and early-onset MALT lymphoma.
- Subjects
MUCOSA-associated lymphoid tissue lymphoma; DIFFUSE large B-cell lymphomas; NEUROFIBROMATOSIS 1; YOUNG adults; HEREDITARY cancer syndromes; MONONUCLEAR leukocytes
- Publication
Medicina (1010660X), 2022, Vol 58, Issue 12, p1830
- ISSN
1010-660X
- Publication type
Article
- DOI
10.3390/medicina58121830