• Hideki Kosako, Yusuke Yamashita, Ken Tanaka, Hiroyuki Mishima, Ryuta Iwamoto, Akira Kinoshita, Shin-Ichi Murata, Koichi Ohshima, YoshiuraKoh-IchiroKIDepartment of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki 8528523, Japan., Takashi Sonoki, and Shinobu Tamura.
• Department of Hematology/Oncology, Wakayama Medical University, Wakayama 6418509, Japan.
• Medicina (Kaunas). 2022 Dec 12; 58 (12).

AbstractBackground: 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.

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