دورية أكاديمية
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
| العنوان: | 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 |
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| المؤلفون: | Hideki Kosako, Yusuke Yamashita, Ken Tanaka, Hiroyuki Mishima, Ryuta Iwamoto, Akira Kinoshita, Shin-ichi Murata, Koichi Ohshima, Koh-ichiro Yoshiura, Takashi Sonoki, Shinobu Tamura |
| المصدر: | Medicina, Vol 58, Iss 12, p 1830 (2022) |
| بيانات النشر: | MDPI AG, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Medicine (General) |
| مصطلحات موضوعية: | neurofibromatosis type 1, mucosa-associated lymphoid tissue lymphoma, histological transformation, IgA, whole-exome sequencing, A20, Medicine (General), R5-920 |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1648-9144 1010-660X |
| العلاقة: | https://www.mdpi.com/1648-9144/58/12/1830Test; https://doaj.org/toc/1010-660XTest; https://doaj.org/toc/1648-9144Test |
| DOI: | 10.3390/medicina58121830 |
| الوصول الحر: | https://doaj.org/article/5775c497e4f14ce590bc0ff13b5d8e21Test |
| رقم الانضمام: | edsdoj.5775c497e4f14ce590bc0ff13b5d8e21 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 16489144 1010660X |
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| DOI: | 10.3390/medicina58121830 |