ZFTA::RELA fusion in a distinct liposarcoma morphologically overlapping with chondroid lipoma
ZFTA::RELA fusion in a distinct liposarcoma morphologically overlapping with chondroid lipoma
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ZFTA::RELA 融合在形态上与软骨样脂肪瘤重叠的独特脂肪肉瘤中
DOI：
10.1002/gcc.23098
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发表时间：
2022
期刊：
影响因子：
--
通讯作者：
Yoshida Akihiko
中科院分区：
文献类型：
--
作者：
Sumida Satoshi;Toki Shun‐ichi;Mori Taisuke;Satomi Kaishi;Takao Shoichiro;Nobusawa Sumihito;Kakimoto Takumi;Nakagawa Shinya;Ryo Eijitsu;Matsushita Yuko;Ichimura Koichi;Nishisho Toshihiko;Bando Yoshimi;Yoshida Akihiko
软骨样脂肪瘤是一种罕见的良性脂肪瘤，其特征是复发性ZFTA：：MRTFB融合。在此，我们报告了一个不寻常的脂肪肉瘤，部分表现出与软骨样脂肪瘤重叠的特征，并含有AZFTA：：RELAfusion。一名59岁的男性因肩部肿块就诊，该肿块已存在约8年，并因盆腔肿块而疼痛加剧。切除的5.8 cm肩关节肿瘤部分由透明化或局灶性软骨粘液样间质内的成脂上皮样细胞巢和成束组成，与软骨样脂肪瘤难以区分。组织学模式逐渐转变为高度细胞化、间质贫乏、弥漫性细胞片层，具有更大的核分裂和有丝分裂活性。存在血管浸润和坏死。转移性盆腔肿瘤显示了相似的组织学。尽管多模式治疗，患者发生多发性骨转移，并死于疾病后14个月的介绍。靶向RNA测序鉴定了框内ZFTA（外显子3）：：RELA（外显子2）融合，并通过逆转录-聚合酶链反应、桑格测序和分离荧光原位杂交试验证实。肿瘤显示出与室管膜瘤不同的组织学，没有脑受累，根据DNA甲基化分析，与任何肉瘤类型或ZFTA：：RELA阳性室管膜瘤都不匹配。p65和L1 CAM弥漫表达，存在aCDKN 2A/B缺失。这是第一份关于aZFTA：：RELAfusion的中枢神经系统外肿瘤的报告。肿瘤部分显示与软骨样脂肪瘤重叠的组织学，提示它可能是迄今未描述的恶性软骨样脂肪瘤与另一种ZFTA融合。
Chondroid lipoma is a rare benign adipose tumor characterized by a recurrentZFTA::MRTFBfusion. Herein, we report an unusual liposarcoma that partly exhibited overlapping features with those of chondroid lipoma and harbored aZFTA::RELAfusion. A 59‐year‐old man presented with a shoulder mass that had existed for approximately 8 years and with increasing pain due to a pelvic mass. The 5.8‐cm resected shoulder tumor partly consisted of nests and strands of variably lipogenic epithelioid cells within a hyalinized or focally chondromyxoid stroma, indistinguishable from chondroid lipoma. The histological pattern gradually transitioned to highly cellular, stroma‐poor, diffuse sheets of cells with greater nuclear atypia and mitotic activity. Vascular invasion and necrosis were present. The metastatic pelvic tumor revealed a similar histology. Despite multimodal treatment, the patient developed multiple bone metastases and succumbed to the disease 14 months after presentation. Targeted RNA sequencing identified an in‐frameZFTA(exon 3)::RELA(exon 2) fusion, which was confirmed by reverse transcription‐polymerase chain reaction, Sanger sequencing, and break‐apart fluorescent in situ hybridization assays. The tumor showed a different histology from that of ependymoma, no brain involvement, and no match with any sarcoma types orZFTA::RELA‐positive ependymomas according to DNA methylation analysis.p65 and L1CAM were diffusely expressed, and aCDKN2A/Bdeletion was present. This is the first report of an extra‐central nervous system tumor with aZFTA::RELAfusion. The tumor partly displayed an overlapping histology with that of chondroid lipoma, suggesting that it may represent a hitherto undescribed malignant chondroid lipoma with an alternativeZFTAfusion.
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影响因子：
64.8
作者：
Capper D;Jones DTW;Sill M;Hovestadt V;Schrimpf D;Sturm D;Koelsche C;Sahm F;Chavez L;Reuss DE;Kratz A;Wefers AK;Huang K;Pajtler KW;Schweizer L;Stichel D;Olar A;Engel NW;Lindenberg K;Harter PN;Braczynski AK;Plate KH;Dohmen H;Garvalov BK;Coras R;Hölsken A;Hewer E;Bewerunge-Hudler M;Schick M;Fischer R;Beschorner R;Schittenhelm J;Staszewski O;Wani K;Varlet P;Pages M;Temming P;Lohmann D;Selt F;Witt H;Milde T;Witt O;Aronica E;Giangaspero F;Rushing E;Scheurlen W;Geisenberger C;Rodriguez FJ;Becker A;Preusser M;Haberler C;Bjerkvig R;Cryan J;Farrell M;Deckert M;Hench J;Frank S;Serrano J;Kannan K;Tsirigos A;Brück W;Hofer S;Brehmer S;Seiz-Rosenhagen M;Hänggi D;Hans V;Rozsnoki S;Hansford JR;Kohlhof P;Kristensen BW;Lechner M;Lopes B;Mawrin C;Ketter R;Kulozik A;Khatib Z;Heppner F;Koch A;Jouvet A;Keohane C;Mühleisen H;Mueller W;Pohl U;Prinz M;Benner A;Zapatka M;Gottardo NG;Driever PH;Kramm CM;Müller HL;Rutkowski S;von Hoff K;Frühwald MC;Gnekow A;Fleischhack G;Tippelt S;Calaminus G;Monoranu CM;Perry A;Jones C;Jacques TS;Radlwimmer B;Gessi M;Pietsch T;Schramm J;Schackert G;Westphal M;Reifenberger G;Wesseling P;Weller M;Collins VP;Blümcke I;Bendszus M;Debus J;Huang A;Jabado N;Northcott PA;Paulus W;Gajjar A;Robinson GW;Taylor MD;Jaunmuktane Z;Ryzhova M;Platten M;Unterberg A;Wick W;Karajannis MA;Mittelbronn M;Acker T;Hartmann C;Aldape K;Schüller U;Buslei R;Lichter P;Kool M;Herold-Mende C;Ellison DW;Hasselblatt M;Snuderl M;Brandner S;Korshunov A;von Deimling A;Pfister SM
通讯作者：
Pfister SM
幕上室管膜瘤 ZFTA 融合阳性
DOI：
10.53347/rid-46047
发表时间：
2016
期刊：
Radiopaedia.org
影响因子：
--
作者：
F. Gaillard
通讯作者：
F. Gaillard
影响因子：
6.4
作者：
Flucke, Uta;Tops, Bastiaan B. J.;Mentzel, Thomas
通讯作者：
Mentzel, Thomas
粘液样脂肪肉瘤组织学谱的扩展，重点是新描述的模式：对小活检标本诊断的影响。
影响因子：
3.5
作者：
K. Fritchie;J. Goldblum;R. Tubbs;Yang Sun;Paula Carver;S. Billings;B. Rubin
通讯作者：
B. Rubin
DOI：
10.1097/pas.0000000000001564
发表时间：
2021-02-01
期刊：
The American journal of surgical pathology
影响因子：
--
作者：
Scapa JV;Cloutier JM;Raghavan SS;Peters-Schulze G;Varma S;Charville GW
通讯作者：
Charville GW