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. 2024 Mar 23;29(1):191.
doi: 10.1186/s40001-024-01797-5.

Clinicopathological and molecular genetic alterations in monomorphic-epitheliotropic intestinal T-cell lymphoma of the small intestine

Bing Zhou #  1 , Min Guo #  2 , Xiaohua Li  3 , Ting Duan  4 , Lizi Peng  5 , Hua Hao  6
Affiliations

Clinicopathological and molecular genetic alterations in monomorphic-epitheliotropic intestinal T-cell lymphoma of the small intestine

Bing Zhou et al. Eur J Med Res. .

Abstract

Background: Small intestinal monomorphic-epitheliotropic intestinal T-cell lymphoma (MEITL) is a rare aggressive T-cell lymphoma originating in the gastrointestinal tract. This study aimed to investigate the clinicopathological features, immunophenotypes, and molecular genetic changes of MEITL.

Methods: The clinicopathological data for three patients with surgically resected MEITL of the small intestine were collected. Next, immunohistochemical labeling, Epstein-Barr virus (EBV) in situ hybridization, assessment of clonal rearrangement of T-cell receptor (TCR) genes, and next-generation sequencing (NGS) were performed.

Results: Of the three patients, two were male and one was female, with ages of 61, 67, and 73 years, respectively. Clinical manifestations were predominantly abdominal pain and distension. Histopathology revealed infiltrative growth of small-to-medium-sized lymphocytes with a consistent morphology between the intestinal walls, accompanied by an obvious pro-epithelial phenomenon. The expression of CD3, CD8, CD43, CD56, TIA-1, CD103, H3K36me3, and Bcl-2 was detected, and the Ki-67 proliferation index ranged from 50% to 80%. All three patients tested negative for EBER. However, monoclonal rearrangement of the TCR gene was detected in them. NGS testing showed a JAK3 mutation in all three cases. Further, STAT5B, SETD2, and TP53 mutations were each observed in two cases, and a BCOR mutation was found in one case. All patients were treated with chemotherapy after surgery. Two patients died 7 and 15 month post-operation, and one patient survived for 5 months of follow-up.

Conclusions: Our findings demonstrate that mutations in JAK3 and STAT5B of the JAK/STAT pathway and inactivation of the oncogene SETD2 markedly contribute to the lymphomagenesis of MEITL.

Keywords: JAK3; MEITL; NGS; SETD; STAT5B; TCR.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
a CT showing small bowel occupying lesion; b CT showing small bowel occupying with adhesions; c large body showing small bowel mass; d large body showing small bowel mass
Fig. 2
Fig. 2
a Infiltrative growth of submucosal tumour cells; b ‘‘pro-epithelial phenomenon’’ of tumour cells; c marked increase in lymphocytes within the largely normal intestinal mucosa; d hyperplasia of endothelial veins in tumour tissues; e tumour cells are more consistent in morphology, small-medium in size; f tumour cells are medium in size with heterogeneity, nuclear fission and fragmentation are seen; g tumour cell CD3 cytoplasmic and cytosolic positivity; h tumour cell CD8 cytosolic and cytosolic positivity; i tumour cell CD56 cytosolic positivity; j tumour cell TIA-1 cytoplasmic positivity; k tumour cell CD103 cytosolic positivity; l Tumour cell H3K36me3 cytosolic positivity; m tumour cell Ki-67 proliferation index ranged from 50% to 80%; n tumour cell EBER negativity
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References

    1. Swerdlow SH, Campo E, Pileri SA, Harris NL, Stein H, Siebert R, et al. The 2016 revision of the world health organization classification of lymphoid neoplasms. Blood. 2016;127(20):2375–2390. doi: 10.1182/blood-2016-01-643569. - DOI - PMC - PubMed
    1. Huang D, Lim JQ, Cheah DMZ, Kahliab K, Laurensia Y, Pang JWL, et al. Whole-genome sequencing reveals potent therapeutic strategy for monomorphic epitheliotropic intestinal T-cell lymphoma. Blood Adv. 2020;4(19):4769–4774. doi: 10.1182/bloodadvances.2020001782. - DOI - PMC - PubMed
    1. Ozaka S, Inoue K, Okajima T, Tasaki T, Ariki S, Ono H, et al. Monomorphic epitheliotropic intestinal T-cell lymphoma presenting as melena with long-term survival: a case report and review of literature. World J Gastroenterol. 2021;27(38):6501–6510. doi: 10.3748/wjg.v27.i38.6501. - DOI - PMC - PubMed
    1. Kikuma K, Yamada K, Nakamura S, Ogami A, Nimura S, Hirahashi M, et al. Detailed Clinicopathological characteristics and possible lymphomagenesis of Type II intestinal enteropathy-associated T-cell lymphoma in Japan. Human Pathol. 2014;45(6):1276–1284. doi: 10.1016/j.humpath.2013.10.038. - DOI - PubMed
    1. Tian S, Xiao SY, Chen Q, Liu H, Ping J. Monomorphic epitheliotropic intestinal T-cell lymphoma may mimic intestinal inflammatory disorders. Int J Immunopathol Pharmacol. 2019;33:2058738419829387. doi: 10.1177/2058738419829387. - DOI - PMC - PubMed

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