Beware of immunohistochemistry - report of a cytokeratin-, desmin- and INI-1-negative pelvic desmoplastic small round cell tumor in a 51 year old woman

International Journal of Clinical and Experimental Pathology

Volumn 8, Issue 1, 2015, Pages 973-982

  Soon, Gwyneth S T ^a   Petersson, Fredrik ^a  

^a NATIONAL UNIVERSITY HEALTH SYSTEM   (Singapore)

Author keywords

Desmoplastic small round cell tumor; Immunohistochemistry; Molecular genetics

Indexed keywords

DESMIN; DNA BINDING PROTEIN; EWS1-WT1 FUSION PROTEIN, HUMAN; KERATIN; NONHISTONE PROTEIN; ONCOPROTEIN; SMARCB1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; TUMOR MARKER;

CASE REPORT; DESMOPLASTIC SMALL ROUND CELL TUMOR; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; HUMAN; IMMUNOHISTOCHEMISTRY; MIDDLE AGED; PELVIC NEOPLASMS;

BIOMARKERS, TUMOR; CHROMOSOMAL PROTEINS, NON-HISTONE; DESMIN; DESMOPLASTIC SMALL ROUND CELL TUMOR; DNA-BINDING PROTEINS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; KERATINS; MIDDLE AGED; ONCOGENE PROTEINS, FUSION; PELVIC NEOPLASMS; TRANSCRIPTION FACTORS;

EID: 84923076259     PISSN: None     EISSN: 19362625     Source Type: Journal    
DOI: None     Document Type: Article

References (60)

1. Gerald WL and Rosai J. Case 2. Desmoplastic small cell tumor with divergent differentiation. Pediatr Pathol 1989; 9: 177-183.
2. Gerald WL, Miller HK, Battifora H, Miettinen M, Silva EG and Rosai J. Intra-abdominal desmoplastic small round-cell tumor. Report of 19 cases of a distinctive type of high-grade polyphenotypic malignancy affecting young individuals. Am J Surg Pathol 1991; 15: 499-513.
3. Ordonez NG. Desmoplastic small round cell tumor: II: an ultrastructural and immunohistochemical study with emphasis on new immunohistochemical markers. Am J Surg Pathol 1998; 22: 1314-1327.
4. Zhang PJ, Goldblum JR, Pawel BR, Fisher C, Pasha TL and Barr FG. Immunophenotype of desmoplastic small round cell tumors as detected in cases with EWS-WT1 gene fusion product. Mod Pathol 2003; 16: 229-235.
5. Hill DA, Pfeifer JD, Marley EF, Dehner LP, Humphrey PA, Zhu X and Swanson PE. WT1 staining reliably differentiates desmoplastic small round cell tumor from Ewing sarcoma/primitive neuroectodermal tumor. An immunohistochemical and molecular diagnostic study. Am J Clin Pathol 2000; 114: 345-353.
6. Arnold MA, Schoenfield L, Limketkai BN and Arnold CA. Diagnostic pitfalls of differentiating desmoplastic small round Cell tumor (DSRCT) from Wilms tumor (WT): overlapping morphologic and immunohistochemical features. Am J Surg Pathol 2014; 38: 1220-1226.
7. Charles AK, Moore IE and Berry PJ. Immuno histochemical detection of the Wilms' tumour gene WT1 in desmoplastic small round cell tumour. Histopathology 1997; 30: 312-314.
8. WHO Classification of Tumours of Soft Tissue and Bone. In: Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F, editors. Lyon: IARC; 2013.
9. Barnoud R, Sabourin JC, Pasquier D, Ranchere D, Bailly C, Terrier-Lacombe MJ and Pasquier B. Immunohistochemical expression of WT1 by desmoplastic small round cell tumor: a comparative study with other small round cell tumors. Am J Surg Pathol 2000; 24: 830-836.
10. Gerald WL, Ladanyi M, de Alava E, Cuatrecasas M, Kushner BH, LaQuaglia MP and Rosai J. Clinical, pathologic, and molecular spectrum of tumors associated with t(11;22)(p13;q12): desmoplastic small round-cell tumor and its variants. J Clin Oncol 1998; 16: 3028-3036.
11. Murphy AJ, Bishop K, Pereira C, Chilton-MacNeill S, Ho M, Zielenska M and Thorner PS. A new molecular variant of desmoplastic small round cell tumor: significance of WT1 immunostaining in this entity. Hum Pathol 2008; 39: 1763-1770.
12. Wolf AN, Ladanyi M, Paull G, Blaugrund JE and Westra WH. The expanding clinical spectrum of desmoplastic small round-cell tumor: a report of two cases with molecular confirmation. Hum Pathol 1999; 30: 430-435.
13. Cummings OW, Ulbright TM, Young RH, Dei Tos AP, Fletcher CD and Hull MT. Desmoplastic small round cell tumors of the paratesticular region. A report of six cases. Am J Surg Pathol 1997; 21: 219-225.
14. Furman J, Murphy WM, Wajsman Z and Berry AD 3rd. Urogenital involvement by desmoplastic small round-cell tumor. J Urol 1997; 158: 1506-1509.
15. Lae ME, Roche PC, Jin L, Lloyd RV and Nascimento AG. Desmoplastic small round cell tumor: a clinicopathologic, immunohistochemical, and molecular study of 32 tumors. Am J Surg Pathol 2002; 26: 823-835.
16. Ordonez NG. Desmoplastic small round cell tumor: I: a histopathologic study of 39 cases with emphasis on unusual histological patterns. Am J Surg Pathol 1998; 22: 1303-1313.
17. Adsay V, Cheng J, Athanasian E, Gerald W and Rosai J. Primary desmoplastic small cell tumor of soft tissues and bone of the hand. Am J Surg Pathol 1999; 23: 1408-1413.
18. Dorsey BV, Benjamin LE, Rauscher F 3rd, Klencke B, Venook AP, Warren RS and Weidner N. Intra-abdominal desmoplastic small round-cell tumor: expansion of the pathologic profile. Mod Pathol 1996; 9: 703-709.
19. Argatoff LH, O'Connell JX, Mathers JA, Gilks CB and Sorensen PH. Detection of the EWS/WT1 gene fusion by reverse transcriptase-polymerase chain reaction in the diagnosis of intra-abdominal desmoplastic small round cell tumor. Am J Surg Pathol 1996; 20: 406-412.
20. de Alava E, Ladanyi M, Rosai J and Gerald WL. Detection of chimeric transcripts in desmoplastic small round cell tumor and related developmental tumors by reverse transcriptase polymerase chain reaction. A specific diagnostic assay. Am J Pathol 1995; 147: 1584-1591.
21. Gerald WL, Rosai J and Ladanyi M. Characterization of the genomic breakpoint and chimeric transcripts in the EWS-WT1 gene fusion of desmoplastic small round cell tumor. Proc Natl Acad Sci U S A 1995; 92: 1028-1032.
22. Ladanyi M and Gerald W. Fusion of the EWS and WT1 genes in the desmoplastic small round cell tumor. Cancer Res 1994; 54: 2837-2840.
23. Sawyer JR, Tryka AF and Lewis JM. A novel reciprocal chromosome translocation t(11;22)(p13;q12) in an intraabdominal desmoplastic small round-cell tumor. Am J Surg Pathol 1992; 16: 411-416.
24. Biegel JA, Conard K and Brooks JJ. Translocation (11;22)(p13;q12): primary change in intra-abdominal desmoplastic small round cell tumor. Genes Chromosomes Cancer 1993; 7: 119-121.
25. Rodriguez E, Sreekantaiah C, Gerald W, Reuter VE, Motzer RJ and Chaganti RS. A recurring translocation, t(11;22)(p13;q11.2), characterizes intra-abdominal desmoplastic small round-cell tumors. Cancer Genet Cytogenet 1993; 69: 17-21.
26. Brodie SG, Stocker SJ, Wardlaw JC, Duncan MH, McConnell TS, Feddersen RM and Williams TM. EWS and WT-1 gene fusion in desmoplastic small round cell tumor of the abdomen. Hum Pathol 1995; 26: 1370-1374.
27. Antonescu CR, Gerald WL, Magid MS and Ladanyi M. Molecular variants of the EWS-WT1 gene fusion in desmoplastic small round cell tumor. Diagn Mol Pathol 1998; 7: 24-28.
28. Chan AS, MacNeill S, Thorner P, Squire J and Zielenska M. Variant EWS-WT1 chimeric product in the desmoplastic small round cell tumor. Pediatr Dev Pathol 1999; 2: 188-192.
29. Fizazi K, Farhat F, Theodore C, Rixe O, Le Cesne A, Comoy E and Le Chevalier T. Ca125 and neuron-specific enolase (NSE) as tumour markers for intra-abdominal desmoplastic small round-cell tumours. Br J Cancer 1997; 75: 76-78.
30. Ordonez NG and Sahin AA. CA 125 production in desmoplastic small round cell tumor: report of a case with elevated serum levels and prominent signet ring morphology. Hum Pathol 1998; 29: 294-299.
31. McCluggage WG. Ovarian neoplasms composed of small round cells: a review. Adv Anat Pathol 2004; 11: 288-296.
32. McCluggage WG, Oliva E, Connolly LE, McBride HA and Young RH. An immunohistochemical analysis of ovarian small cell carcinoma of hypercalcemic type. Int J Gynecol Pathol 2004; 23: 330-336.
33. Jelinic P, Mueller JJ, Olvera N, Dao F, Scott SN, Shah R, Gao J, Schultz N, Gonen M, Soslow RA, Berger MF and Levine DA. Recurrent SMARCA4 mutations in small cell carcinoma of the ovary. Nat Genet 2014; 46: 424-426.
34. Ramos P, Karnezis AN, Craig DW, Sekulic A, Russell ML, Hendricks WP, Corneveaux JJ, Barrett MT, Shumansky K, Yang Y, Shah SP, Prentice LM, Marra MA, Kiefer J, Zismann VL, McEachron TA, Salhia B, Prat J, D'Angelo E, Clarke BA, Pressey JG, Farley JH, Anthony SP, Roden RB, Cunliffe HE, Huntsman DG and Trent JM. Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. Nat Genet 2014; 46: 427-429.
35. Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsague E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J and Foulkes WD. Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nat Genet 2014; 46: 438-443.
36. Kupryjanczyk J, Dansonka-Mieszkowska A, Moes-Sosnowska J, Plisiecka-Halasa J, Szafron L, Podgorska A, Rzepecka IK, Konopka B, Budzilowska A, Rembiszewska A, Grajkowska W and Spiewankiewicz B. Ovarian small cell carcinoma of hypercalcemic type-evidence of germline origin and SMARCA4 gene inactivation. a pilot study. Pol J Pathol 2013; 64: 238-246.
37. Clement PB and Young RH. Atlas of Gynecologic Surgical Pathology. Saunders; 2014.
38. Kleinman GM, Young RH and Scully RE. Primary neuroectodermal tumors of the ovary. A report of 25 cases. Am J Surg Pathol 1993; 17: 764-778.
39. Folpe AL, Hill CE, Parham DM, O'Shea PA and Weiss SW. Immunohistochemical detection of FLI-1 protein expression: a study of 132 round cell tumors with emphasis on CD99-positive mimics of Ewing's sarcoma/primitive neuroectodermal tumor. Am J Surg Pathol 2000; 24: 1657-1662.
40. Rekhi B, Ahmed S, Basak R, Qureshi SS, Desai SS, Ramadwar M, Desai SB, Kurkure P and Jambhekar NA. Desmoplastic small round cell tumor-clinicopathological spectrum, including unusual features and immunohistochemical analysis of 45 tumors diagnosed at a tertiary cancer referral centre, with molecular results t(11;22)(p13;q12) (EWS-WT1) in select cases. Pathol Oncol Res 2012; 18: 917-927.
41. Monappa V, Bhat SS and Valiathan M. Desmoplastic small round cell tumour in a young woman with widespread metastasis and peritoneal caking. J Clin Diagn Res 2013; 7: 2958-2959.
42. Nakayama J, Nassau S, Atkins K and Modesitt SC. Desmoplastic small round cell tumor of the ovary: A rare but devastating disease in young women. Gynecol Oncol Case Rep 2013; 7: 16-18.
43. Young RH, Eichhorn JH, Dickersin GR and Scully RE. Ovarian involvement by the intra-abdominal desmoplastic small round cell tumor with divergent differentiation: a report of three cases. Hum Pathol 1992; 23: 454-464.
44. Reich O, Justus J and Tamussino KF. Intra-abdominal desmoplastic small round cell tumor in a 68-year-old female. Eur J Gynaecol Oncol 2000; 21: 126-127.
45. Parker LP, Duong JL, Wharton JT, Malpica A, Silva EG and Deavers MT. Desmoplastic small round cell tumor: report of a case presenting as a primary ovarian neoplasm. Eur J Gynaecol Oncol 2002; 23: 199-202.
46. Slomovitz BM, Girotra M, Aledo A, Saqi A, Soslow RA, Spigland NA and Caputo TA. Desmoplastic small round cell tumor with primary ovarian involvement: case report and review. Gynecol Oncol 2000; 79: 124-128.
47. Bland AE, Shah AA, Piscitelli JT, Bentley RC and Secord AA. Desmoplastic small round cell tumor masquerading as advanced ovarian cancer. Int J Gynecol Cancer 2008; 18: 847-850.
48. Cole P, Ladanyi M, Gerald WL, Cheung NK, Kramer K, LaQuaglia MP and Kushner BH. Synovial sarcoma mimicking desmoplastic small round-cell tumor: critical role for molecular diagnosis. Med Pediatr Oncol 1999; 32: 97-101.
49. Gerald WL and Rosai J. Desmoplastic small cell tumor with multi-phenotypic differentiation. Zentralbl Pathol 1993; 139: 141-151.
50. Trupiano JK, Machen SK, Barr FG and Goldblum JR. Cytokeratin-negative desmoplastic small round cell tumor: a report of two cases emphasizing the utility of reverse transcriptase-polymerase chain reaction. Mod Pathol 1999; 12: 849-853.
51. Arnold MA, Arnold CA, Li G, Chae U, El-Etriby R, Lee CC and Tsokos M. A unique pattern of INI1 immunohistochemistry distinguishes synovial sarcoma from its histologic mimics. Hum Pathol 2013; 44: 881-887.
52. Mularz K, Harazin-Lechowska A, Ambicka A, Kruczak A, Rozmus-Pieton M, Marchinska-Osika U, Swiatkiewicz I, Krol M, Pabis D, Janus G and Rys J. Specificity and sensitivity of INI-1 labeling in epithelioid sarcoma. Loss of INI1 expression as a frequent immunohistochemical event in synovial sarcoma. Pol J Pathol 2012; 63: 179-183.
53. Hollmann TJ and Hornick JL. INI1-deficient tumors: diagnostic features and molecular genetics. Am J Surg Pathol 2011; 35: e47-63.
54. Hornick JL, Dal Cin P and Fletcher CD. Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. Am J Surg Pathol 2009; 33: 542-550.
55. Kohashi K, Oda Y, Yamamoto H, Tamiya S, Oshiro Y, Izumi T, Taguchi T and Tsuneyoshi M. SMARCB1/INI1 protein expression in round cell soft tissue sarcomas associated with chromosomal translocations involving EWS: a special reference to SMARCB1/INI1 negative variant extraskeletal myxoid chondrosarcoma. Am J Surg Pathol 2008; 32: 1168-1174.
56. Elwood H, Chaux A, Schultz L, Illei PB, Baydar DE, Billis A, Sharma R, Argani P, Epstein JI and Netto GJ. Immunohistochemical analysis of SMARCB1/INI-1 expression in collecting duct carcinoma. Urology 2011; 78: 474, e471-475.
57. Agaimy A, Koch M, Lell M, Semrau S, Dudek W, Wachter DL, Knoll A, Iro H, Haller F and Hartmann A. SMARCB1 (INI1)-deficient Sinonasal Basaloid Carcinoma: a Novel Member of the Expanding Family of SMARCB1-deficient Neoplasms. Am J Surg Pathol 2014; 38: 1274-1281.
58. Agaimy A, Rau TT, Hartmann A and Stoehr R. SMARCB1 (INI1)-negative rhabdoid carcinomas of the gastrointestinal tract: clinicopathologic and molecular study of a highly aggressive variant with literature review. Am J Surg Pathol 2014; 38: 910-920.
59. Sigauke E, Rakheja D, Maddox DL, Hladik CL, White CL, Timmons CF and Raisanen J. Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue: an immunohistochemical study with implications for diagnosis. Mod Pathol 2006; 19: 717-725.
60. Hoot AC, Russo P, Judkins AR, Perlman EJ and Biegel JA. Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. Am J Surg Pathol 2004; 28: 1485-1491.