Giant cell fibroblastoma: a case report
Authors:
Jan Hrudka 1; Jan Hojný 2; Eva Leamerová; Radoslav Matěj 3 1,2,4
Authors place of work:
Ústav patologie 3. lékařské fakulty Univerzity Karlovy a Fakultní nemocnice Královské Vinohrady, Praha
1; Ústav patologie 1. lékařské fakulty Univerzity Karlovy a Všeobecné fakultní nemocnice, Praha
2; Klinika plastické chirurgie 3. lékařské fakulty Univerzity Karlovy a Fakultní nemocnice Královské Vinohrady, Praha
3; Ústav patologie a molekulární medicíny 3. lékařské fakulty Univerzity Karlovy a Fakultní Thomayerovy nemocnice, Praha
4
Published in the journal:
Čes.-slov. Patol., 58, 2022, No. 3, p. 161-165
Category:
Original Articles
Summary
Giant cell fibroblastoma is a rare locally aggressive tumor of subcutaneous mesenchymal tissue, occurring mostly on the trunk in young individuals with maximal incidence in the first decade of life. Local recurrences of giant cell fibroblastoma are common if marginally excised, however, distant metastases do not occur. Giant cell fibroblastoma was labelled as a juvenile variant of dermatofibrosarcoma protuberans (DFSP) due to quite frequent combination of both lesions, morphological similarities, identical immunoprofile, and shared gene fusion t(17;22) COL1A1-PDGFB. In this paper, we report a case of a young man with a slowly growing subcutaneous tumor in the groin. The tumor was excised and histological examination identified a mesenchymal tumor with variable cellularity, presence of multinucleated giant cells and pleomorphic spindle cells, which lined pseudovascular or angiectoid spaces. The CD34 immunohistochemistry showed strong positivity in all of these cells, whereas ERG was positive only in endothelial cells in true vessels. These findings led to a suspicion on giant cell fibroblastoma. Because of its borderline malignant behaviour and positive surgical margins, the lesion was subsequently reexcised. The molecular analysis identified the transcription product of gene fusion COL1A1-PDGFB and thus, final diagnosis was confirmed. The article includes review of the literature and brief historical overview of giant cell fibroblastoma concept as an unique entity.
Keywords:
dermatofibrosarcoma protuberans – giant cell – fibroblastoma – juvenile
Zdroje
1. Povýšil C, Kodet R. Klasifikace nádorů. In: Povýšil C, Šteiner I. (Eds.) Obecná patologie. Galén, Praha, 2011: 205.
2. Mentzel TDW, Pedeutour F. Giant cell fibroblastoma. In: WHO Classification of Tumours. Soft tissue and bone tumours (5th ed). Lyon (France): International Agency for Research on Cancer; 2020: 98-99.
3. Shmookler BM, Enzinger FM, Weiss SM. Giant cell fibroblastoma. A juvenile form of dermatofibrosarcoma protuberans. Cancer 1989; 64(10): 2154-2161.
4. Díaz-Cascajo C, Borrego L, Bastida-Iñarrea J, Borghi S. Giant cell fibroblastoma. New histological observations. Am J Dermatopathol 1996; 18(4): 403-408.
5. Jha P, Moosavi C, Fanburg-Smith JC. Giant cell fibroblastoma: an update and addition of 86 new cases from the Armed Forces Institute of Pathology, in honor of Dr. Franz M. Enzinger. Ann Diagn Pathol 2007; 11(2): 81-88.
6. Hrudka J, Charvát M, Grossmann P, Kinkor Z. Dermatofibrosarcoma protuberans s fibrosarkomatózní transformací: kazuistika. Cesk Patol 2020; 56(2): 89-93.
7. Simon MP, Pedeutour F, Sirvent N, et al. Deregulation of the platelet derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. Nat Genet 1997; 15(1): 95-98.
8. Karabela-Bouropoulou V, Liapi-Avgeri G, Mahera H, et al. Giant cell fibroblastoma: an entity or a reactive phenomenon? Pathol Res Pract 1999; 195(6): 413-419.
9. Robinson DR, Wu YM, Kalyana-Sundaram S, et al. Identification of recurrent NAB2- STAT6 gene fusions in solitary fibrous tumor by integrative sequencing. Nat Genet 2013; 45(2): 180-185.
10. Chmielecki J, Crago AM, Rosenberg M, et al. Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors. Nat Genet 2013; 45(2): 131-132.
11. Švajdler M, Michal M, Kinkor Z. Jaká je Vaše diagnóza? Giant cell angiofibroma (varianta solitárneho fibrózneho tumoru). Cesk Patol 2015; 51(3):126,127,132.
12. Abdul-Karim FW, Evans HL, Silva EG. Giant cell fibroblastoma: a report of three cases. Am J Clin Pathol 1985; 83(2): 165-170.
13. Fletcher CD. Giant cell fibroblastoma of soft tissue: a clinicopathological and immunohistochemical study. Histopathology 1988; 13(5): 499-508.
14. Rosen LB, Amazon K, Weitzner J, Resnick L. Giant cell fibroblastoma. A report of a case and review of the literature. Am J Dermatopathol 1989; 11(3): 242-247.
15. Bastian BC, Harms D, Kreipe HH, Hamm H, Bröcker EB. Das Riesenzellfibroblastom. Ein seltener Weichteiltumor des Kindesalters [Giant cell fibroblastoma. A rare soft tissue tumor in childhood]. Hautarzt 1996; 47(4): 299- 303.
16. Kanai Y, Mukai M, Sugiura H, et al. Giant cell fibroblastoma. A case report and immunohistochemical comparison with ten cases of dermatofibrosarcoma protuberans. Acta Pathol Jpn 1991; 41(7): 552-560.
17. Tzen CY, Chen BF, Lu FH, Chang PY, Yang AH. Giant cell fibroblastoma: a case report. Zhonghua Yi Xue Za Zhi (Taipei) 1996; 57(6): 447-451.
18. Nguyen CM, Burch JM, Fitzpatrick JE, Peterson SL, Weston WL. Giant cell fibroblastoma in a child misdiagnosed as a dermatofibroma. Pediatr Dermatol. 2002; 19(1): 28-32.
19. Vargas-Gonzalez R, Solis-Coria A. Giant cell fibroblastoma in a 3-year-old boy. Pathol Oncol Res 2003; 9(4): 249-251.
20. Doric M, Radovic S, Babic M, et al. Giant cell fibroblastoma in a 4-year-old boy: a case report and review of the literature. Med Arh 2006; 60(6): 389-390.
21. Boukhechba M, Lamalmi N, Malihy A, Rouas L, Hamany ZA. Fibroblastome à cellules géantes inhabituel: à propos d’un cas [Unusual giant cell fibroblastoma: A case report]. Pan Afr Med J 2017; 28: 263.
22. Maity P, Chatterjee U, Das M, Patra S. Recurrent giant cell fibroblastoma in an infant: a diagnostic challenge. Fetal Pediatr Pathol 2020: 1-8.
23. Beham A, Fletcher CD. Dermatofibrosarcoma protuberans with areas resembling giant cell fibroblastoma: report of two cases. Histopathology 1990; 17(2): 165-167.
24. Alguacil-Garcia A. Giant cell fibroblastoma recurring as dermatofibrosarcoma protuberans. Am J Surg Pathol 1991; 15(8): 798-801.
25. Allen PW, Zwi J. Giant cell fibroblastoma transforming into dermatofibrosarcoma protuberans. Am J Surg Pathol 1992; 16(11): 1127- 129.
26. Coyne J, Kaftan SM, Craig RD. Dermatofibrosarcoma protuberans recurring as a giant cell fibroblastoma. Histopathology 1992; 21(2): 184-187.
27. Michal M, Zámečník M. Giant cell fibroblastoma with a dermatofibrosarcoma protuberans component. Am J Dermatopathol 1992; 14(6): 549-552.
28. De Chadarévian JP, Coppola D, Billmire DF. Bednar tumor pattern in recurring giant cell fibroblastoma. Am J Clin Pathol 1993; 100(2): 164-166.
29. Perry DA, Schultz LR, Dehner LP. Giant cell fibroblastoma with dermatofibrosarcoma protuberans-like transformation. J Cutan Pathol 1993; 20(5): 451-454.
30. Pitt MA, Coyne JD, Harris M, McWilliam LJ. Dermatofibrosarcoma protuberans recurring as a giant cell fibroblastoma with subsequent fibrosarcomatous change. Histopathology 1994; 24(2): 197-198.
31. Zámečník M, Michal M. Giant-cell fibroblastoma with pigmented dermatofibrosarcoma protuberans component. Am J Surg Pathol 1994; 18(7): 736-740.
32. Michal M, Zámečník M. Ultrastructure of composite tumours consisting of giant cell fibroblastoma and dermatofibrosarcoma protuberans. Zentralbl Pathol 1995; 140(6): 415- 420.
33. Dal Cin P, Sciot R, de Wever I, et al. Cytogenetic and immunohistochemical evidence that giant cell fibroblastoma is related to dermatofibrosarcoma protuberans. Genes Chromosomes Cancer 1996; 15(1): 73-75.
34. Goldblum JR. Giant cell fibroblastoma: a report of three cases with histologic and immunohistochemical evidence of a relationship to dermatofibrosarcoma protuberans. Arch Pathol Lab Med 1996; 120(11): 1052-1055.
35. Harvell JD, Kilpatrick SE, White WL. Histogenetic relations between giant cell fibroblastoma and dermatofibrosarcoma protuberans. CD34 staining showing the spectrum and a simulator. Am J Dermatopathol 1998; 20(4): 339-345.
36. Maeda T, Hirose T, Furuya K, Shirakawa K, Kobayashi K. Giant cell fibroblastoma associated with dermatofibrosarcoma protuberans: a case report. Mod Pathol 1998; 11(5): 491-495.
37. Silverman JS, Tamsen A. A cutaneous case of giant cell angiofibroma occurring with dermatofibrosarcoma protuberans and showing bimodal CD34+ fibroblastic and FXIIIa+ histiocytic immunophenotype. J Cutan Pathol 1998; 25(5): 265-270.
38. Galinier P, Scheiner C, Bardot J, et al. Giant- cell fibroblastoma and dermato fibro sarcoma protuberans: the same tumoral spectrum? Report of two cases of association in children. Eur J Pediatr Surg 2000; 10(6): 390- 394.
39. Kholová I, Ryška A, Dědič K. Composite tumor consisting of dermatofibrosarcoma protuberans and giant cell fibroblastoma associated with intratumoral endometriosis. Report of a case. Pathol Res Pract 2001; 197(4): 263-267; discussion 269-270.
40. Cherradi N, Malihy A, Benkiran L, Barahioui M, Alhamany Z. Fibroblastome à cellules géantes récidivant sous forme de dermatofibrosarcome [Giant cell fibroblastoma recurring as dermatofibrosarcoma. A pediatric case report]. Ann Pathol 2002; 22(6): 465-468.
41. Wang J, Zhu X, Zhang R. [Giant cell fibroblastoma: a clinicopathologic analysis of seven cases]. Zhonghua Bing Li Xue Za Zhi 2002; 31(1): 38-41.
42. Terrier-Lacombe MJ, Guillou L, Maire G, et al. Dermatofibrosarcoma protuberans, giant cell fibroblastoma, and hybrid lesions in children: clinicopathologic comparative analysis of 28 cases with molecular data--a study from the French Federation of Cancer Centers Sarcoma Group. Am J Surg Pathol 2003; 27(1): 27- 39.
43. Macarenco RS, Zamolyi R, Franco MF, et al. Genomic gains of COL1A1-PDFGB occur in the histologic evolution of giant cell fibroblastoma into dermatofibrosarcoma protuberans. Genes Chromosomes Cancer 2008; 47(3): 260-265.
44. Pascual A, Sánchez-Martínez C, Moreno C, et al. Dermatofibrosarcoma protuberans with areas of giant cell fibroblastoma in the vulva: a case report. Eur J Gynaecol Oncol 2010; 31(6): 685-689.
45. Warbrick-Smith J, Hollowood K, Birch J. Dermatofibrosarcoma protuberans recurring as a hybrid dermatofibrosarcoma/giant cell fibroblastoma in an adult: a case report. J Plast Reconstr Aesthet Surg 2010; 63(11): e785-7.
46. Braswell DS, Ayoubi N, Motaparthi K, Walker A. Dermatofibrosarcoma protuberans with features of giant cell fibroblastoma in an adult. J Cutan Pathol 2020; 47(4): 317-320.
47. Maitra A, Timmons CF, Siddiqui MT, Saboorian MH. Fine-needle aspiration biopsy features in a case of giant cell fibroblastoma of the chest wall. Arch Pathol Lab Med 2001; 125(8): 1091-1094.
48. Layfield LJ, Gopez EV. Fine-needle aspiration cytology of giant cell fibroblastoma: case report and review of the literature. Diagn Cytopathol 2002; 26(6): 398-403.
49. Labropoulos SV, Fletcher JA, Oliveira AM, Papadopoulos S, Razis ED. Sustained complete remission of metastatic dermatofibrosarcoma protuberans with imatinib mesylate. Anticancer Drugs 2005; 16(4): 461-466.
50. Labropoulos SV, Razis ED. Imatinib in the treatment of dermatofibrosarcoma protuberans. Biologics 2007;1(4): 347-353.
Štítky
Anatomical pathology Forensic medical examiner ToxicologyČlánok vyšiel v časopise
Czecho-Slovak Pathology
2022 Číslo 3
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