The evaluation of CD99 immunoreactivity and EWS/FLI1 translocation by fluorescence in situ hybridization in central PNETs and Ewing's sarcoma family of tumors.
Ewing's sarcoma family of tumors (ESFTs) are indicated by malignant, small, round and blue cell tumors of the bone and soft tissue. Gene rearrangements between EWS gene on chromosome 22q12 and members of the ETS gene family are common in and specific to ESFTs. Another defining characteristic of ESFTs is their membranous expression of the CD99. In contrast, such translocations and immunoreactivity are not found in central primitive neuroectodermal tumors (cPNETs). The aim of this study was to investigate the detection of EWS/FLI1 translocations and CD99 immunoreactivity in order to evaluate their clinicopathological features and their roles in the differential diagnosis of these tumors. In this study, we investigated CD99 immunoreactivity using immunohistochemistry and Ewing's sarcoma / Friend leukaemia virus integration 1 (EWS/FLI1) translocation using the fluorescence in situ hybridization (FISH) method in 23 cases. CD99 expression was detected in 10/11 (90%) ESFT cases and 2/7 cPNET cases. In 18 cases EWS/FLI1 translocation was examined using the FISH method. The EWS/FLI1 translocations were detected in 7/8 (87.5%) ESFTs cases, whereas non of 8 cPNET cases were detected with this translocation. One case could not be classified as either central or peripheral, showed EWS/FLI1 translocation. There was a statistically significant difference in CD99 expression (p = 0.0013) and EWS/FLI1 translocation (p = 0,002) between cPNETs and ESFTs cases. In conclusion, CD99 expression and EWS/FLI1 translocation are specific and sensitive markers in the diagnosis of ESFTs. However, these were often not found in cases of cPNET. Therefore, in the diagnosis of ESFTs, clinical, radiological, histopathological and immunohistochemical parameters should always be evaluated together.
Department of Pathology, Başkent University Faculty of Medicine, Ankara, Turkey. dr.cvural@gmail.com
Ciğdem
C
Vural
Omer
O
Uluoğlu
Nalan
N
Akyürek
Aynur
A
Oğuz
Ceyda
C
Karadeniz
D000071443:12E7 Antigen; D000293:Adolescent; D000328:Adult; D015703:Antigens, CD / Q000378:metabolism*; D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism; D001859:Bone Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D015815:Cell Adhesion Molecules / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007124:Immunoenzyme Techniques; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D018241:Neuroectodermal Tumors, Primitive, Peripheral / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D011379:Prognosis; D051789:Proto-Oncogene Protein c-fli-1 / Q000235:genetics*; D034802:RNA-Binding Protein EWS / Q000235:genetics*; D012189:Retrospective Studies; D012512:Sarcoma, Ewing / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D014178:Translocation, Genetic; D055815:Young Adult
D000071443:12E7 Antigen; D015703:Antigens, CD; D014408:Biomarkers, Tumor; C061828:CD99 protein, human; D015815:Cell Adhesion Molecules; C106031:EWS-FLI fusion protein; D015514:Oncogene Proteins, Fusion; D051789:Proto-Oncogene Protein c-fli-1; D034802:RNA-Binding Protein EWS
Appl Immunohistochem Mol Morphol. 2004 Jun;12(2):160-5
15354743
Diagn Mol Pathol. 2005 Mar;14(1):23-8
15714060
Semin Diagn Pathol. 2000 Aug;17(3):216-24
10968707
Mod Pathol. 2004 May;17(5):547-52
15001993
Hum Pathol. 2001 Oct;32(10):1109-15
11679946
J Korean Med Sci. 1998 Aug;13(4):395-9
9741544
Diagn Mol Pathol. 2007 Jun;16(2):108-11
17525681
J Clin Oncol. 2000 Jan;18(1):204-13
10623711
Pediatr Dev Pathol. 2000 May-Jun;3(3):203-10
10742406
Adv Anat Pathol. 2005 Jul;12(4):212-20
16096383
Am J Surg Pathol. 1997 Apr;21(4):461-8
9130994
Am J Surg Pathol. 1998 Mar;22(3):310-8
9500772
Histopathology. 2006 Dec;49(6):569-75
17163841
Cancer Genet Cytogenet. 2003 Jan 15;140(2):107-12
12645647
Am J Pathol. 1996 Apr;148(4):1125-38
8644855
Am J Pathol. 1999 Jul;155(1):11-5
10393830
Appl Immunohistochem Mol Morphol. 2001 Sep;9(3):255-60
11556754
Histopathology. 2004 Dec;45(6):651-4
15569062
Pediatr Blood Cancer. 2005 Nov;45(6):850-6
15929128
Am J Surg Pathol. 2000 Dec;24(12):1657-62
11117787
Hum Pathol. 2006 Jul;37(7):845-53
16784984
Hematol Oncol. 2006 Mar;24(1):14-21
16400699
AJNR Am J Neuroradiol. 2006 Mar;27(3):580-3
16551995
J Neurooncol. 2006 Mar;77(1):65-72
16292490
Am J Surg Pathol. 2005 Aug;29(8):1025-33
16006796
J Clin Oncol. 1999 Jun;17(6):1809-14
10561219
Neuropathology. 2001 Mar;21(1):40-4
11304041
Neurol Med Chir (Tokyo). 2008 Feb;48(2):72-6
18296876