Recurrent intragenic exon rearrangements of SOBP and AUTS2 in non-Hodgkin B-cell lymphoma

• Published in: International journal of hematology Vol. 111; no. 1; pp. 75 - 83
• Main Authors: Matsumoto, Yosuke, Chinen, Yoshiaki, Shimura, Yuji, Nagoshi, Hisao, Sasaki, Nana, Muramatsu, Ayako, Kuriyama, Kodai, Ohshiro, Muneo, Hirakawa, Yoshiko, Iwai, Toshiki, Uchiyama, Hitoji, Taki, Tomohiko, Horiike, Shigeo, Kuroda, Junya, Taniwaki, Masafumi
• Format: Journal Article
• Language: English
• Published: Tokyo Springer Japan 01.01.2020; Springer Nature B.V
• Subjects: B-cell lymphoma; Biomarkers; Exons; Hematology; Lymphocytes B; Lymphoma; Medicine; Medicine & Public Health; Neoplasms; Nucleotides; Oncology; Original Article; Polymerase chain reaction; Polymorphism; Reverse transcription; Sequence analysis; Single-nucleotide polymorphism; Tumorigenesis; Tumors; Intragenic exon rearrangement; Lymphoma; AUTS2; SOBP
• ISSN: 0925-5710; 1865-3774
• DOI: 10.1007/s12185-019-02766-z

Expression of intragenic exon rearrangements (IERs) has reportedly been detected in both normal and cancer cells. However, there have been few reports of occurrence of these rearrangements specific to neoplasms including malignant lymphoma. In this study, we detected IERs of ten genes ( NBPF8 , SOBP , AUTS2 , RAB21 , SPATA13 , ABCC4 , WDR7 , PHLPP1 , NFATC1 and MAGED1 ) in non-Hodgkin B cell lymphoma (B-NHL) cell line KPUM-UH1 using a high-resolution single nucleotide polymorphism array and reverse transcription polymerase chain reaction using reversely directed divergent primers within exons involved in genomic intragenic gains followed by sequencing analysis. Among them, the IERs involved in SOBP (6q21) exon 2 and 3 and AUTS2 (7q11.22) exon 2–4 were the molecular lesions specific to tumors and were frequently detected in B-NHL samples. These IERs constitute novel genetic alterations of B-NHL, which might be associated with tumorigenesis and be useful as genetic biological markers.