Biphenotypic Sinonasal Sarcoma—Case Report and Review of Clinicopathological Features and Diagnostic Modalities

Chandala Chitguppi; Ian Koszewski; Kaitlin Collura; Mark Curtis; Gurston Nyquist; Mindy Rabinowitz; Marc Rosen

doi:10.1055/s-0038-1667146

Journal of Neurological Surgery Part B: Skull Base, Table of Contents

J Neurol Surg B Skull Base 2019; 80(01): 051-058
DOI: 10.1055/s-0038-1667146

Original Article

Georg Thieme Verlag KG Stuttgart · New York

Biphenotypic Sinonasal Sarcoma—Case Report and Review of Clinicopathological Features and Diagnostic Modalities

Chandala Chitguppi

¹Division of Rhinology and Endoscopic Skull Base Surgery, Department of Otolaryngology - Head and Neck Surgery, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, United States

,

Ian Koszewski

¹Division of Rhinology and Endoscopic Skull Base Surgery, Department of Otolaryngology - Head and Neck Surgery, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, United States

,

Kaitlin Collura

¹Division of Rhinology and Endoscopic Skull Base Surgery, Department of Otolaryngology - Head and Neck Surgery, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, United States

,

Mark Curtis

¹Division of Rhinology and Endoscopic Skull Base Surgery, Department of Otolaryngology - Head and Neck Surgery, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, United States

,

Gurston Nyquist

¹Division of Rhinology and Endoscopic Skull Base Surgery, Department of Otolaryngology - Head and Neck Surgery, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, United States

,

Mindy Rabinowitz

¹Division of Rhinology and Endoscopic Skull Base Surgery, Department of Otolaryngology - Head and Neck Surgery, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, United States

,

Marc Rosen

¹Division of Rhinology and Endoscopic Skull Base Surgery, Department of Otolaryngology - Head and Neck Surgery, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, United States

› Author Affiliations

Abstract

Background Biphenotypic sinonasal sarcoma is a recently described malignancy showing dual differentiation with both myogenic and neural elements. Due to its histologic similarities to other sinonasal malignancies, it is a diagnostic challenge.

Objective The main purpose of this article is to report a case of biphenotypic sinonasal sarcoma and to consolidate data and provide a comprehensive review regarding pathological differences between biphenotypic sarcoma and other sinonasal malignancies and diagnostic modalities used for biphenotypic sarcoma.

Material and Methods A systematic review of all cases of biphenotypic sinonasal sarcoma was performed using electronic databases (PubMed and Medline). Data collected included age, gender, symptoms, sub-site of origin, immunophenotyping, metastasis, recurrence, treatment, duration of follow-up, and survival outcomes.

Results Ninety-five cases of biphenotypic sarcoma were found with mean age at diagnosis of 52.36 years (range, 24–87 years). Female to male ratio was 2.27:1. Extra-sinonasal extension was present in 28%. Immunophenotyping revealed that S-100 and SMA (smooth muscle actin) were consistently positive, while SOX-10 was consistently negative. PAX3-MAML3 fusion [t (2; 4) (q35; q31.1)] was the most common genetic rearrangement. Surgical excision with or without adjuvant radiotherapy was the most frequent treatment modality used. Recurrence was observed in 32% of cases with follow-up. None of the cases reported metastasis. Three patients had died at the time of publication that included one case with intracranial extension.

Conclusion Biphenotypic sarcoma is distinct sinonasal malignancy with unique clinicopathological features. Testing involving a battery of myogenic and neural immunomarkers is essential for diagnostic confirmation and is a clinically useful endeavor when clinical suspicion is high.

Keywords

sarcoma - sinus - nasal - biphenotypic - spindle cell

Full Text

References

References
1 Thompson LDR, Franchi A. New tumor entities in the 4th edition of the World Health Organization classification of head and neck tumors: nasal cavity, paranasal sinuses and skull base. Virchows Arch 2018; Mar; 472 (03) 315-330
2 Maulbecker CC, Gruss P. The oncogenic potential of Pax genes. EMBO J 1993; 12 (06) 2361-2367
3 Gil-Benso R, López-Ginés C, Carda C. , et al. Cytogenetic and molecular findings related to rhabdomyosarcoma. An analysis of seven cases. Cancer Genet Cytogenet 2003; 144 (02) 125-133
4 Lewis JT, Oliveira AM, Nascimento AG. , et al. Low-grade sinonasal sarcoma with neural and myogenic features: a clinicopathologic analysis of 28 cases. Am J Surg Pathol 2012; 36 (04) 517-525
5 Powers KA, Han LM, Chiu AG, Aly FZ. Low-grade sinonasal sarcoma with neural and myogenic features--diagnostic challenge and pathogenic insight. Oral Surg Oral Med Oral Pathol Oral Radiol 2015; 119 (05) e265-e269
6 Huang SC, Ghossein RA, Bishop JA. , et al. Novel PAX3-NCOA1 fusions in biphenotypic sinonasal sarcoma with focal rhabdomyoblastic differentiation. Am J Surg Pathol 2016; 40 (01) 51-59
7 Wong WJ, Lauria A, Hornick JL, Xiao S, Fletcher JA, Marino-Enriquez A. Alternate PAX3-FOXO1 oncogenic fusion in biphenotypic sinonasal sarcoma. Genes Chromosomes Cancer 2016; 55 (01) 25-29
8 Fritchie KJ, Jin L, Wang X. , et al. Fusion gene profile of biphenotypic sinonasal sarcoma: an analysis of 44 cases. Histopathology 2016; 69 (06) 930-936
9 Rooper LM, Huang SC, Antonescu CR, Westra WH, Bishop JA. Biphenotypic sinonasal sarcoma: an expanded immunoprofile including consistent nuclear β-catenin positivity and absence of SOX10 expression. Hum Pathol 2016; 55: 44-50
10 Cannon RB, Wiggins III RH, Witt BL, Dundar Y, Johnston TM, Hunt JP. Imaging and outcomes for a new entity: low-grade sinonasal sarcoma with neural and myogenic features. J Neurol Surg Rep 2017; 78 (01) e15-e19
11 Wang X, Bledsoe KL, Graham RP. , et al. Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma. Nat Genet 2014; 46 (07) 666-668
12 Wenig BM. Recently described sinonasal tract lesions/neoplasms: considerations for the new world health organization book. Head Neck Pathol 2014; 8 (01) 33-41
13 Purgina B, Lai CK. Distinctive head and neck bone and soft tissue neoplasms. Surg Pathol Clin 2017; 10 (01) 223-279
14 Riddle NN, Gardner JM. The new kids on the block: recently characterized soft tissue tumors. Surg Pathol Clin 2015; 8 (03) 467-491
15 Johncilla M, Jo VY. Soft tissue tumors of the sinonasal tract. Semin Diagn Pathol 2016; 33 (02) 81-90
16 Miettinen M, McCue PA, Sarlomo-Rikala M. , et al. Sox10--a marker for not only schwannian and melanocytic neoplasms but also myoepithelial cell tumors of soft tissue: a systematic analysis of 5134 tumors. Am J Surg Pathol 2015; 39 (06) 826-835
17 Kang Y, Pekmezci M, Folpe AL, Ersen A, Horvai AE. Diagnostic utility of SOX10 to distinguish malignant peripheral nerve sheath tumor from synovial sarcoma, including intraneural synovial sarcoma. Mod Pathol 2014; 27 (01) 55-61
18 Karamchandani JR, Nielsen TO, van de Rijn M, West RB. Sox10 and S100 in the diagnosis of soft-tissue neoplasms. Appl Immunohistochem Mol Morphol 2012; 20 (05) 445-450
19 Heffner DK, Gnepp DR. Sinonasal fibrosarcomas, malignant schwannomas, and “Triton” tumors. A clinicopathologic study of 67 cases. Cancer 1992; 70 (05) 1089-1101
20 Carlson JW, Fletcher CD. Immunohistochemistry for beta-catenin in the differential diagnosis of spindle cell lesions: analysis of a series and review of the literature. Histopathology 2007; 51 (04) 509-514
21 Terada T, Kato T. Sinonasal-type hemangiopericytoma of the nasal cavity and paranasal sinus. Int J Clin Oncol 2012; 17 (02) 169-173
22 Pelmus M, Guillou L, Hostein I, Sierankowski G, Lussan C, Coindre JM. Monophasic fibrous and poorly differentiated synovial sarcoma: immunohistochemical reassessment of 60 t(X;18)(SYT-SSX)-positive cases. Am J Surg Pathol 2002; 26 (11) 1434-1440
23 Cessna MH, Zhou H, Perkins SL. , et al. Are myogenin and myoD1 expression specific for rhabdomyosarcoma? A study of 150 cases, with emphasis on spindle cell mimics. Am J Surg Pathol 2001; 25 (09) 1150-1157
24 Thompson LD, Miettinen M, Wenig BM. Sinonasal-type hemangiopericytoma: a clinicopathologic and immunophenotypic analysis of 104 cases showing perivascular myoid differentiation. Am J Surg Pathol 2003; 27 (06) 737-749
25 Lang D, Lu MM, Huang L. , et al. Pax3 functions at a nodal point in melanocyte stem cell differentiation. Nature 2005; 433 (7028): 884-887
26 Wang Q, Fang WH, Krupinski J, Kumar S, Slevin M, Kumar P. Pax genes in embryogenesis and oncogenesis. J Cell Mol Med 2008; 12 (6A): 2281-2294
27 Medic S, Ziman M. PAX3 across the spectrum: from melanoblast to melanoma. Crit Rev Biochem Mol Biol 2009; 44 (2-3): 85-97
28 Nakazaki H, Reddy AC, Mania-Farnell BL. , et al. Key basic helix-loop-helix transcription factor genes Hes1 and Ngn2 are regulated by Pax3 during mouse embryonic development. Dev Biol 2008; 316 (02) 510-523
29 Wu AW, Suh JD, Metson R, Wang MB. Prognostic factors in sinonasal sarcomas: analysis of the surveillance, epidemiology and end result database. Laryngoscope 2012; 122 (10) 2137-2142
30 Szablewski V, Neuville A, Terrier P. , et al. Adult sinonasal soft tissue sarcoma: analysis of 48 cases from the French Sarcoma Group database. Laryngoscope 2015; 125 (03) 615-623
31 Charest M, Hickeson M, Lisbona R, Novales-Diaz JA, Derbekyan V, Turcotte RE. FDG PET/CT imaging in primary osseous and soft tissue sarcomas: a retrospective review of 212 cases. Eur J Nucl Med Mol Imaging 2009; 36 (12) 1944-1951
32 Shin DS, Shon OJ, Han DS, Choi JH, Chun KA, Cho IH. The clinical efficacy of (18)F-FDG-PET/CT in benign and malignant musculoskeletal tumors. Ann Nucl Med 2008; 22 (07) 603-609
33 Ioannidis JP, Lau J. 18F-FDG PET for the diagnosis and grading of soft-tissue sarcoma: a meta-analysis. J Nucl Med 2003; 44 (05) 717-724
34 Sorensen PH, Lynch JC, Qualman SJ. , et al. PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group. J Clin Oncol 2002; 20 (11) 2672-2679
35 Barr FG, Zhang PJ. The impact of genetics on sarcoma diagnosis: an evolving science. Clin Cancer Res 2006; 12 (18) 5256-5257