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Biến đổi ALK-TPM3 trong ung thư biểu mô thận ở người lớn: một báo cáo trường hợp và tổng quan tài liệu
Tóm tắt
Ung thư tế bào thận liên quan đến chuyển vị ALK (ALK-tRCC) là một thể hiếm gặp của ung thư tế bào thận ở người lớn (RCC) được báo cáo trong những năm gần đây. Nó được công nhận là một nhóm RCC mới/emerging trong phân loại gần đây nhất của Tổ chức Y tế Thế giới (2016). Một trường hợp ALK-tRCC mới từ Trung Quốc đã được báo cáo. Bệnh nhân là một người đàn ông 58 tuổi với khối u ở thận. Khối u được cấu thành từ các tấm tế bào lớn có bào tương giàu eosinophil và các ranh giới tế bào không rõ nhưng có các vacuole nội bào nổi bật. Các nhân tế bào bị phình to với độ grade nucleolar 4. Về mặt miễn dịch mô học, các tế bào ung thư cho phản ứng dương tính phổ biến với PAX8, keratin (AE1/AE3), kháng nguyên màng biểu mô (EMA) và CK7. Kỹ thuật lai huỳnh quang tại chỗ (FISH) cho thấy sự tái sắp xếp của ALK trong các tế bào khối u. ALK-tRCC là một thể hiếm gặp của RCC ở người lớn. Việc chẩn đoán rất khó khăn vì phổ mô học rất rộng. Chúng tôi đề xuất rằng nên sàng lọc RCC cho sự biểu hiện của ALK bằng cách sử dụng miễn dịch hóa mô học (IHC) để bệnh nhân có thể hưởng lợi từ liệu pháp ức chế ALK.
Từ khóa
#ALK-tRCC #ung thư tế bào thận #PAX8 #kỹ thuật lai huỳnh quang tại chỗ #miễn dịch hóa mô họcTài liệu tham khảo
Morris SW, Kirstein MN, Valentine MB, Dittmer KG, Shapiro DN, Saltman DL, Look AT. Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin’s lymphoma. Science. 1994;263:1281–4.
Lawrence B, Perez-Atayde A, Hibbard MK, Rubin BP, Dal Cin P, Pinkus JL, Pinkus GS, Xiao S, Yi ES, et al. TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors. Am J Pathol. 2000;157:377–84.
Ma Z, Cools J, Marynen P, Cui X, Siebert R, Gesk S, Schlegelberger B, Peeters B, De Wolf-Peeters C, et al. Inv(2)(p23q35) in anaplastic large-cell lymphoma induces constitutive anaplastic lymphoma kinase (ALK) tyrosine kinase activation by fusion to ATIC, an enzyme involved in purine nucleotide biosynthesis. Blood. 2000;95:2144–9.
Bridge JA, Kanamori M, Ma Z, Pickering D, Hill DA, Lydiatt W, Lui MY, Colleoni GW, Antonescu CR, et al. Fusion of the ALK gene to the clathrin heavy chain gene, CLTC, in inflammatory myofibroblastic tumor. Am J Pathol. 2001;159:411–5.
Dirks WG, Fahnrich S, Lis Y, Becker E, MacLeod RA, Drexler HG. Expression and functional analysis of the anaplastic lymphoma kinase (ALK) gene in tumor cell lines. Int J Cancer. 2002;100:49–56.
Gascoyne RD, Lamant L, Martin-Subero JI, Lestou VS, Harris NL, Muller-Hermelink HK, Seymour JF, Campbell LJ, Horsman DE, et al. ALK-positive diffuse large B-cell lymphoma is associated with Clathrin-ALK rearrangements: report of 6 cases. Blood. 2003;102:2568–73.
Soda M, Choi YL, Enomoto M, Takada S, Yamashita Y, Ishikawa S, Fujiwara S, Watanabe H, Kurashina K, et al. Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. Nature. 2007;448:561–6.
Lin E, Li L, Guan Y, Soriano R, Rivers CS, Mohan S, Pandita A, Tang J, Modrusan Z. Exon array profiling detects EML4-ALK fusion in breast, colorectal, and non-small cell lung cancers. Mol Cancer Res. 2009;7:1466–76.
Debelenko LV, Raimondi SC, Daw N, Shivakumar BR, Huang D, Nelson M, Bridge JA. Renal cell carcinoma with novel VCL-ALK fusion: new representative of ALK-associated tumor spectrum. Mod Pathol. 2011;24:430–42.
Marino-Enriquez A, Ou WB, Weldon CB, Fletcher JA, Perez-Atayde AR. ALK rearrangement in sickle cell trait-associated renal medullary carcinoma. Genes Chromosom Cancer. 2011;50:146–53.
Sukov WR, Hodge JC, Lohse CM, Akre MK, Leibovich BC, Thompson RH, Cheville JC. ALK alterations in adult renal cell carcinoma: frequency, clinicopathologic features and outcome in a large series of consecutively treated patients. Mod Pathol. 2012;25:1516–25.
Sugawara E, Togashi Y, Kuroda N, Sakata S, Hatano S, Asaka R, Yuasa T, Yonese J, Kitagawa M, et al. Identification of anaplastic lymphoma kinase fusions in renal cancer: large-scale immunohistochemical screening by the intercalated antibody-enhanced polymer method. Cancer. 2012;118:4427–36.
Smith NE, Deyrup AT, Marino-Enriquez A, Fletcher JA, Bridge JA, Illei PB, Netto GJ, Argani P. VCL-ALK renal cell carcinoma in children with sickle-cell trait: the eighth sickle-cell nephropathy? Am J Surg Pathol. 2014;38:858–63.
Thorner PS, Shago M, Marrano P, Shaikh F, Somers GR. TFE3-positive renal cell carcinomas are not always Xp11 translocation carcinomas: report of a case with a TPM3-ALK translocation. Pathol Res Pract. 2016;212:937–42.
Cajaiba MM, Jennings LJ, Rohan SM, Perez-Atayde AR, Marino-Enriquez A, Fletcher JA, Geller JI, Leuer KM, Bridge JA, et al. ALK-rearranged renal cell carcinomas in children. Genes Chromosom Cancer. 2016;55:442–51.
Cajaiba MM, Jennings LJ, George D, Perlman EJ. Expanding the spectrum of ALK-rearranged renal cell carcinomas in children: identification of a novel HOOK1-ALK fusion transcript. Genes Chromosom Cancer. 2016;55:814–7.
Ryan C, Mayer N, Cunningham J, Hislop G, Pratt N, Fleming S. Increased ALK1 copy number and renal cell carcinoma-a case report. Virchows Arch. 2014;464:241–5.
Zhang H, Erickson-Johnson M, Wang X, Bahrami A, Medeiros F, Lonzo ML, Oliveira AM. Malignant high-grade histological transformation of inflammatory myofibroblastic tumour associated with amplification of TPM3-ALK. J Clin Pathol. 2010;63:1040–1.
Bodokh Y, Ambrosetti D, Kubiniek V, Tibi B, Durand M, Amiel J, Pertuit M, Barlier A, Pedeutour F. ALK-TPM3 rearrangement in adult renal cell carcinoma: report of a new case showing loss of chromosome 3 and literature review. Cancer Genet. 2018;221:31–7.
Yu W, Wang Y, Jiang Y, Zhang W, Li Y. Genetic analysis and clinicopathological features of ALK-rearranged renal cell carcinoma in a large series of resected Chinese renal cell carcinoma patients and literature review. Histopathology. 2017;71:53–62.
Lee C, Park JW, Suh JH, Nam KH, Moon KC. ALK-positive renal cell carcinoma in a large series of consecutively resected Korean renal cell carcinoma patients. Korean J Pathol. 2013;47:452–7.
Moch H, Humphrey PA, Ulbright TM, Reuter VE. WHO classification of tumours of the urinary system and male genital organs. Lyon: International Agency for Research on Cancer; 2016.
Shaw AT, Kim DW, Mehra R, et al. Ceritinib in ALK-rearranged non-small-cell lung cancer. N Engl J Med. 2014;370:1189–97.
Ou SH, Ahn JS, De Petris L, et al. Alectinib in crizotinib-refractory ALK-rearranged non-small-cell lung cancer: a phase II global study. J Clin Oncol. 2016;34:661–8.
Ross JS, Ali S, Fasan O, et al. ALK fusions in a wide variety of tumor types respond to anti-ALK targeted therapy. Oncologist. 2017;22:1444–50.
Jessica J. Tao, Ge Wei, Roopal Patel et al. ALK fusions in renal cell carcinoma: response to entrectinib. JCO Precision Oncology. 2018;2:1–8. https://doi.org/10.1200/PO.18.00185.
Pal SK, Bergerot P, Dizman N, et al. Responses to alectinib in ALK-rearranged papillary renal cellcarcinoma. Eur Urol. 2018;74:123–9.
Gunning P. Emerging issues for tropomyosin structure, regulation, function and pathology. Adv Exp Med Biol. 2008;644:293–8.
Lees JG, Bach CT, O'Neill GM. Interior decoration: tropomyosin in actin dynamics and cell migration. Cell Adhes Migr. 2011;5:181–6.
Wilton SD, Eyre H, Akkari PA, Watkins HC, MacRae C, Laing NG, Callen DC. Assignment of the human a-tropomyosin gene TPM3 to 1q22-->q23 by fluorescence in situ hybridisation. Cytogenet Cell Genet. 1995;68:122–4.
Amano Y, Ishikawa R, Sakatani T, Ichinose J, Sunohara M, Watanabe K, Kage H, Nakajima J, Nagase T, et al. Oncogenic TPM3-ALK activation requires dimerization through the coiled-coil structure of TPM3. Biochem Biophys Res Commun. 2015;457:457–60.
Coffin CM, Patel A, Perkins S, Elenitoba-Johnson KS, Perlman E, Griffin CA. ALK1 and p80 expression and chromosomal rearrangements involving 2p23 in inflammatory myofibroblastic tumor. Mod Pathol. 2001;14:569–76.
Chan JK, Cheuk W, Shimizu M. Anaplastic lymphoma kinase expression in inflammatory pseudotumors. Am J Surg Pathol. 2001;25:761–8.
Armstrong F, Lamant L, Hieblot C, Delsol G, Touriol C. TPM3-ALK expression induces changes in cytoskeleton organisation and confers higher metastatic capacities than other ALK fusion proteins. Eur J Cancer. 2007;43:640–6.
Shin S, Kim J, Yoon SO, Kim YR, Lee KA. ALK-positive anaplastic large cell lymphoma with TPM3-ALK translocation. Leuk Res. 2012;36:e143–5.
Hoshino A, Nomura K, Hamashima T, Isobe T, Seki M, Hiwatari M, Yoshida K, Shiraishi Y, Chiba K, et al. Aggressive transformation of anaplastic large cell lymphoma with increased number of ALK-translocated chromosomes. Int J Hematol. 2015;101:198–202.
Marsaud A, Dadone B, Ambrosetti D, Baudoin C, Chamorey E, Rouleau E, Lefol C, Roussel JF, Fabas T, et al. Dismantling papillary renal cell carcinoma classification: the heterogeneity of genetic profiles suggests several independent diseases. Genes Chromosom Cancer. 2015;54:369–82.
Klatte T, Said JW, Seligson DB, Rao PN, de Martino M, Shuch B, Zomorodian N, Kabbinavar FF, Belldegrun AS, et al. Pathological, immunohistochemical and cytogenetic features of papillary renal cell carcinoma with clear cell features. J Urol. 2011;185:30–5.
Malouf GG, Monzon FA, Couturier J, Molinie V, Escudier B, Camparo P, Su X, Yao H, Tamboli P, et al. Genomic heterogeneity of translocation renal cell carcinoma. Clin Cancer Res. 2013;19:4673–84.
Jeanneau M, Gregoire V, Desplechain C, Escande F, Tica DP, Aubert S, Leroy X. ALK rearrangements-associated renal cell carcinoma (RCC) with unique pathological features in an adult. Pathol Res Pract. 2016;212:1064–6.
Kusano H, Togashi Y, Akiba J, Moriya F, Baba K, Matsuzaki N, Yuba Y, Shiraishi Y, Kanamaru H, et al. Two cases of renal cell carcinoma harboring a novel STRN-ALK fusion gene. Am J Surg Pathol. 2016;40:761–9.