Ichikawa Satoshi, Kato Hiroki, Morota Naoya, Abe Hiroaki, Kawajiri Akihisa, Inokura Kyoko, Onodera Koichi, Onishi Yasushi, Fukuhara Noriko, Sato Satoko, Fujishima Fumiyoshi, Ichinohasama Ryo, Harigae Hideo
Department of Hematology, Tohoku University Hospital, Sendai, Japan.
Division of Hematology and Rheumatology, Tohoku Medical and Pharmaceutical University, 1-15-1 Fukumuro, Miyagino-Ku, Sendai, 983-8536, Japan.
Ann Hematol. 2025 Jan;104(1):835-840. doi: 10.1007/s00277-024-06148-2. Epub 2024 Dec 18.
Although rearrangement of the MYC oncogene (MYC-R) is frequently observed in aggressive B-cell lymphomas, it is extremely rare in T-cell malignancies. A 64-year-old man who had been under observation for several years because of asymptomatic pulmonary extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALToma) was admitted to our hospital because of poor general condition and hypotension. Blood tests revealed thrombocytopenia and elevated serum lactate dehydrogenase levels, whereas computed tomography revealed systemic lymphadenopathy and splenomegaly. An inguinal lymph node biopsy precipitated a diagnosis of angioimmunoblastic T-cell lymphoma (AITL). Shortly after admission, the patient experienced spontaneous intestinal perforation and hemorrhage caused by multiple intestinal infiltrations of the AITL. Although chemotherapy was administered, the patient died several weeks after admission. A 46,XY,t(8;14)(q24;q11.2) karyotype was identified, and fluorescence in situ hybridization analyses showed split signals for the MYC and T-cell receptor (TCR) alpha genes, by which a TCR::MYC translocation was confirmed. Pathological autopsy analysis revealed systemic infiltration of the AITL and no MALToma lesions. Only a few cases of mature T-cell lymphoma harboring MYC-R have been reported in the literature thus far. To the best of our knowledge, this is the first reported case of AITL with TCR::MYC rearrangement. This condition could be associated with refractoriness to chemotherapy and aggressive clinical course with systemic infiltration that included the intestine.
尽管MYC癌基因重排（MYC-R）在侵袭性B细胞淋巴瘤中经常可见，但在T细胞恶性肿瘤中极为罕见。一名64岁男性因无症状黏膜相关淋巴组织肺外边缘区淋巴瘤（MALToma）已接受数年观察，但因全身状况不佳和低血压入住我院。血液检查显示血小板减少和血清乳酸脱氢酶水平升高，而计算机断层扫描显示全身淋巴结肿大和脾肿大。腹股沟淋巴结活检确诊为血管免疫母细胞性T细胞淋巴瘤（AITL）。入院后不久，患者因AITL的多处肠道浸润发生自发性肠穿孔和出血。尽管进行了化疗，但患者在入院数周后死亡。鉴定出46,XY,t(8;14)(q24;q11.2)核型，荧光原位杂交分析显示MYC和T细胞受体（TCR）α基因的分裂信号，由此证实了TCR::MYC易位。病理尸检分析显示AITL全身浸润且无MALToma病变。迄今为止，文献中仅报道了少数几例伴有MYC-R的成熟T细胞淋巴瘤病例。据我们所知，这是首例报道的伴有TCR::MYC重排的AITL病例。这种情况可能与化疗难治性以及包括肠道在内的全身浸润的侵袭性临床病程有关。
