Koplin Stephanie A, Twohig Matthew H, Lund Dennis P, Hafez G Reza
Department of Pathology and Laboratory Medicine, University of Wisconsin-Madison, CSC-3224, 600 Highland Avenue, Madison, WI 53792, USA.
Pathol Res Pract. 2008;204(4):277-81. doi: 10.1016/j.prp.2007.10.004. Epub 2008 Feb 13.
A large intra-abdominal mass was discovered in a 6-month-old boy during a routine well-child examination. Imaging studies revealed a solid mass which appeared to arise from the left lobe of the liver, extending caudally and filling the entire pelvis. At the time of surgical excision, the mass was found to be unassociated with the liver, but was instead localized to the omentum. Histologic examination revealed adipocytes of varying stages of maturation arranged in a lobular architecture, consistent with a lipoblastoma. This unusual tumor is only the eighth reported omental lipoblastoma [J. Hicks, A. Dilley, D. Patel, J. Barrish, S. Zhu, M. Brandt, Lipoblastoma and lipoblastomatosis in infancy and childhood: histologic, ultrastructural, and cytogenetic features. Ultrastruct. Pathol. 25 (2001) 321-333; J. Harrer, G. Hammon, T. Wagner, M. Bolkenius, Lipoblastoma and lipoblastomatosis: a report of two cases and review of the literature. Eur. J. Pediatr. Surg. 11 (2001) 342-349; S. Weiss and J. Goldblum, Enzinger and Weiss's Soft Tissue Tumors, fourth ed., Mosby, St. Louis, MO, 2001, pp. 601-605, 670-686; S. Soin, S. Andronikou, R. Lisle, K. Platt, K. Lakhoo, Omental lipoblastoma in a child; diagnosis based in CT density measurements. J. Pediatr. Hematol. Oncol. 28(1) (2006) 57-58; A. Prando, S. Wallace, J.L. Marins, R.M. Pereira, E.R. de Oliveira, M. Alvarenga, Sonographic features of benign intraperitoneal lipomatous tumors in children-report of 4 cases. Pediatr. Radiol. 20(8) (1990) 571-574; C. Blank, E. Schoenmakers, P. Rogalla, E. Huys, A. Van Rijk, N. Drieschner, J. Bullerdiek, Intragenic breakpoint within RAD51L1 in a t(6;14)(p21.3;q24) of a pulmonary chondroid hamartoma. Cytogenet. Cell Genet. 95 (2001) 17-19; S. Ingraham, R. Lynch, S. Kathiresan, A. Buckler, A. Menon, hREC2, a RAD51-like gene, is disrupted by t(12;14)(q15;q24.1) in a uterine leiomyoma. Cancer Genet. Cytogenet. 115 (1999) 56-61]. Cytogenetics revealed a karyotype of 46,XY,t(8;14)(q13;q24). While lipoblastomas characteristically involve 8q, only one prior case has been reported with 14q24 as its fusion partner [M. He, K. Das, M. Blacksin, J. Benevenia, M. Hameed, A translocation involving the placental growth factor gene is identified in an epithelioid hemangioendothelioma. Cancer Genet. Cytogenet. 168 (2006) 150-154]. We report this unique case of an omental lipoblastoma with a focus on its unusual karyotype, as well as its differentiation from myxoid liposarcoma.
在一名6个月大男童的常规健康检查中发现了一个巨大的腹腔内肿块。影像学检查显示为一个实性肿块，似乎起源于肝脏左叶，向尾侧延伸并充满整个盆腔。手术切除时发现该肿块与肝脏无关，而是局限于网膜。组织学检查显示不同成熟阶段的脂肪细胞呈小叶状排列，符合脂肪母细胞瘤的特征。这种不寻常的肿瘤是第八例报道的网膜脂肪母细胞瘤[J.希克斯、A.迪利、D.帕特尔、J.巴里什、S.朱、M.布兰特，婴儿期和儿童期脂肪母细胞瘤和成脂肪细胞瘤病：组织学、超微结构和细胞遗传学特征。超微结构病理学。25(2001)321 - 333；J.哈勒、G.哈蒙、T.瓦格纳、M.博尔肯纽斯，脂肪母细胞瘤和成脂肪细胞瘤病：两例报告及文献复习。欧洲小儿外科杂志。11(2001)342 - 349；S.韦斯和J.戈德布卢姆，恩津格和韦斯软组织肿瘤学，第四版，莫斯比出版社，密苏里州圣路易斯，2001年，第601 - 605页，670 - 686页；S.索因、S.安德罗尼库、R.莱尔、K.普拉特、K.拉胡，儿童网膜脂肪母细胞瘤；基于CT密度测量的诊断。儿科血液肿瘤学杂志。28(1)(2006)57 - 58；A.普兰多、S.华莱士、J.L.马林、R.M.佩雷拉、E.R.德奥利维拉、M.阿尔瓦伦加，儿童良性腹膜内脂肪瘤性肿瘤的超声特征——4例报告。儿科放射学。20(8)(1990)571 - 574；C.布兰克、E.舍恩马克斯、P.罗加拉、E.胡伊斯、A.范里杰克、N.德里施纳、J.布勒迪克，肺软骨样错构瘤t(6；14)(p21.3；q24)中RAD51L1基因内的基因内断点。细胞遗传学与细胞遗传学。95(2001)17 - 19；S.英格拉姆、R.林奇、S.卡蒂雷桑、A.巴克勒、A.梅农，hREC2，一种RAD51样基因，在子宫平滑肌瘤中被t(12；14)(q15；q24.1)破坏。癌症遗传学与细胞遗传学。115(1999)56 - 61]。细胞遗传学显示核型为46，XY，t(8；14)(q13；q24)。虽然脂肪母细胞瘤通常累及8q，但此前仅有一例报道以14q24作为融合伙伴[M.何、K.达斯、M.布莱克斯因、J.贝内维尼亚、M.哈米德，在一例上皮样血管内皮瘤中鉴定出涉及胎盘生长因子基因的易位。癌症遗传学与细胞遗传学。168(2006)150 - 154]。我们报告这例独特的网膜脂肪母细胞瘤病例，重点关注其不寻常的核型以及与黏液样脂肪肉瘤的鉴别诊断。
