Disseminated Carcinoma Ex Pleomorphic Adenoma in an Adolescent Confirmed by Application of PLAG1 Immunohistochemistry and FISH for PLAG1 Rearrangement

被引:7
作者
Armita Bahrami
James D. Dalton
Shivakumar Bangalore
Charlene Henry
Jeffrey F. Krane
Fariba Navid
David W. Ellison
机构
[1] Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN 38105, 262 Danny Thomas Place
[2] Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston MA
[3] Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN
关键词
Carcinoma ex pleomorphic adenoma; Carcinoma of unknown primary; PLAG1; Salivary gland;
D O I
10.1007/s12105-012-0330-2
中图分类号
学科分类号
摘要
A 16-year-old previously asymptomatic boy presented with complaints of fatigue, weight loss, and back pain for several months. Imaging studies revealed a large superior mediastinal mass, numerous bilateral pulmonary nodules, and multiple lytic bone lesions. A needle biopsy from a sternal lesion showed a poorly differentiated carcinoma, immunoreactive for cytokeratins and EMA and immunonegative for various organ/tissue-specific markers. His past medical history was significant for excision of a parotid gland tumor 5 years earlier. Histologic review of the salivary gland tumor revealed a pleomorphic adenoma containing a microscopic focus of invasive carcinoma (carcinoma ex pleomorphic adenoma). By immunohistochemistry, both the salivary gland tumor and the disseminated carcinoma expressed PLAG1 with a strong nuclear pattern. Fluorescence in situ hybridization (FISH), using dual-color, break-apart probes for PLAG1, showed rearrangement of the gene in both the salivary gland and the disseminated tumors. FISH demonstrated additional cytogenetic aberrations in the carcinoma, including polysomy for chromosome 8 (in both the primary salivary gland and the metastatic tumors) and PLAG1 amplification (in the metastatic tumor). We conclude that in the proper clinicopathologic setting, application of PLAG1 immunohistochemistry and FISH for PLAG1 gene rearrangement may be valuable in establishing the diagnosis of carcinoma ex pleomorphic adenoma as the source of a cancer of unknown primary site. © 2012 Springer Science+Business Media, LLC.
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页码:377 / 383
页数:6
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共 35 条
[1]  
Gnepp D.R., Malignant mixed tumors of the salivary glands: a review, Pathol Annu, 28, Pt 1, pp. 279-328, (1993)
[2]  
Gnepp D.R., Brandwein M., El-Naggar A.K., Et al., Pleomorphic adenoma, World health organization classification of tumours. Pathology and genetics of head and neck tumours, pp. 242-244, (2005)
[3]  
Olsen K.D., Lewis J.E., Carcinoma ex pleomorphic adenoma: a clinicopathologic review, Head Neck, 23, pp. 705-712, (2001)
[4]  
Greco F.A., Hainsworth J.D., Introduction: unknown primary cancer, Semin Oncol, 36, pp. 6-7, (2009)
[5]  
Bourke J.L., Langer S.W., Jensen H.L., Metastasizing malignant pleomorphic adenoma in a young man, Apmis, 115, pp. 866-868, (2007)
[6]  
Ellison D.W., Kocak M., Dalton J., Et al., Definition of disease-risk stratification groups in childhood medulloblastoma using combined clinical, pathologic, and molecular variables, J Clin Oncol, 29, pp. 1400-1407, (2011)
[7]  
Athale U.H., Shurtleff S.A., Jenkins J.J., Et al., Use of reverse transcriptase polymerase chain reaction for diagnosis and staging of alveolar rhabdomyosarcoma, Ewing sarcoma family of tumors, and desmoplastic small round cell tumor, J Pediatr Hematol Oncol, 23, pp. 99-104, (2001)
[8]  
Auclair P.L., Ellis G.L., Atypical features in salivary gland mixed tumors: their relationship to malignant transformation, Mod Pathol, 9, pp. 652-657, (1996)
[9]  
Lewis J.E., Olsen K.D., Sebo T.J., Carcinoma ex pleomorphic adenoma: pathologic analysis of 73 cases, Hum Pathol, 32, pp. 596-604, (2001)
[10]  
Miller R.E., Illing R.O., Whelan J.S., Lung carcinoma with hypertrophic osteoarthropathy in a teenager, Rare Tumors, 3, (2011)