Pathology & Oncology Research (2019) 25:593–601 https://doi.org/10.1007/s12253-018-0510-9 ORIGINAL ARTICLE Sarcomas of the Oral and Maxillofacial Region: Analysis of 26 Cases with Emphasis on Diagnostic Challenges Priya Kumar 1 & Varun Surya1 & Aadithya B. Urs1 & J. Augustine1 & Sujata Mohanty2 & Sunita Gupta3 Received: 6 September 2018 /Accepted: 15 October 2018 /Published online: 31 October 2018 # Arányi Lajos Foundation 2018 Abstract Sarcomas of the Oral and Maxillofacial Region (SOMR) are rare lesions which pose diagnostic and management challenges. We analyzed 26 cases of SOMR with respect to clinical presentation, histopathological subtype, treatment modalities, recurrence, and treatment outcome. In our series, Osteosarcoma (OS) was the most common type of sarcoma (7 cases), followed by 5 cases of Ewing’s Sarcoma (ES), 3 cases each of Chondrosarcoma (CS) and Leiomyosarcoma (LMS), 2 cases each of Malignant Peripheral Nerve Sheath Tumor (MPNST), Pleomorphic Undifferentiated Sarcoma (PUS), Myeloid Sarcoma (MS)and Rhabdomyosarcoma (RMS). Surgery was the primary treatment modality in most cases and was combined with adjuvant chemo/ radiotherapy in few cases. 24 of the 26 cases were followed up for an average period of 40.67 months. Adverse disease outcomes like recurrence were seen in 2 cases whereas death due to the disease was reported in 7 cases. In view of the diagnostic challenges faced in SOMRs, it appears practical to stress on the underlying genetic aspects of the disease process rather than histological subtyping to improve disease outcome. Keywords Sarcoma . Oral and maxillofacial region . Molecular diagnostics Introduction Sarcomas are a heterogeneous group of rare neoplasms that * Priya Kumar constitute about only 1% of all malignancies. They are even [email protected] rarer in the oral and maxillofacial region and constitute less than 1% of neoplasms occurring in this region Varun Surya [email protected] [1].The true incidence of these tumors is relatively diffi- cult to ascertain due to rarity of their occurrence and dif- Aadithya B. Urs ficulty in diagnosis and classification. Sarcomas originate [email protected] from diverse tissues and more than 50 histopathological J. Augustine subtypes have been identified [2]. [email protected] Sarcomas of the oral and maxillofacial region (SOMR) are Sujata Mohanty known to arise more often from soft tissue (80%) than from [email protected] bone/cartilage (20%) [1].They confer mortality by virtue of Sunita Gupta local recurrence rather than distant metastasis as is observed [email protected] in sarcomas arising in sites other than oral and maxillofacial 1 region [3]. Acceptable surgical margins are difficult to obtain Department of Oral Pathology, Maulana Azad Institute of Dental in case of SOMR due to delicate anatomy of this region and Sciences, 7th floor, New Delhi, India 2 proximity to vital structures [4]. Department of Oral and Maxillofacial Surgery, Maulana Azad The diagnosis and classification of sarcomas has been Institute of Dental Sciences, New Delhi, India 3 aided by use of immunohistochemistry (IHC) and molecular Department of Oral Medicine & Radiology, Maulana Azad Institute markers; however as many as 20% of these tumors still remain of Dental Sciences, New Delhi, India 594 P. Kumar et al. unclassified and are thus difficult to manage [5]. There is a Ewing’s sarcoma. Histopathologically the most common hard paucity of evidence based data in the literature which is a tissue sarcoma was osteosarcoma and the most common soft direct result of the controversies in sarcoma grading and clas- tissue sarcoma was Ewing’s sarcoma. The patient details have sification, rarity of these lesions and lack of clear guidelines been summarized in Table 1. for successful management [6]. The treatment protocol has been summarized in Table 2. Although SOMR are rare tumors, they cause high mortality The primary treatment modality in our cases was surgery with and morbidity and hence should be familiar to all healthcare adjunctive chemotherapy and radiotherapy in some cases. In professionals enabling early diagnosis and treatment. The aim cases of myeloid sarcoma only chemotherapy was adminis- of this study was to analyze the clinical, histopathological tered. The average follow-up time was 40.67 months with 2 features; treatment outcomes and survival in patients of cases lost to follow-up. Overall survival of patients with SOMR seen at our institute over a 10 year period for better SOMR is shown in Fig. 1.The age-specific survival of the understanding of these rare lesions. Commonly encountered pediatric cohort was comparatively better than the adult co- diagnostic pitfalls have also been discussed. hort. (Fig. 2). Material and Methods Discussion The present study was carried out retrospectively, using archi- SOMR pose a great challenge for survey studies due to the val records of patients diagnosed with SOMR at our institution rarity of their occurrence and diversity of presentation. from 2007 to 2017. As per the institutional guidelines, this Literature shows presence of some survey studies which add study was exempted from ethical clearance. to the limited knowledge available on these lesions. Most of After careful examination of all records and reassessment these studies investigate patient’s profile; treatment and sur- of histopathological diagnosis, a total of 26 patients diagnosed vival [2].We have attempted to address the challenges faced with primary SOMR were included in the study. while diagnosing sarcomas in addition to the above. The clinical records of the included patients were reviewed Due to the prevalence of tobacco habit in the Indian sub- for demographic details, histopathological diagnosis, treat- continent, oral squamous cell carcinoma is the most frequently ment modality, recurrence and outcome. For overall survival, encountered malignancy whereas sarcomas account for less period from the time of diagnosis till last follow-up/death was than 1% of malignant head and neck tumors [7]. Out of the considered. None of these patients presented with a prior his- total 1222 case of reported malignancies in our department tory of irradiation/surgery. during the study period, only26 (2.1%)were SOMRs. Statistical analysis was done using IBM SPSS version 20.0 The average age of occurrence of SOMR is 50–60 years as software. Kaplan-Meier method was used for evaluating sur- evidenced by previously published reports. In the present se- vival curves with area under the curve calculated at 95% con- ries, the average age was 52 years. This value may be skewed fidence interval. due to inclusion of 2 young children aged 4 and 5 years suf- fering from Ewing’s sarcoma and myeloid sarcoma respec- tively. A marked male predilection (n = 19) similar to pub- Results lished literature was also observed [8]. Clinically SOMRs present with vague features with major- A total of 26 patients with SOMR were diagnosed at our ity of the patients reporting with a painless swelling of rela- institution during the study period. Of these, 19 were male tively short duration and are otherwise asymptomatic [9].Pain (73.07%) and 7 were female (26.9%). The age of initial pre- is usually seen in association with sarcomas of bone [10].In the sentation tumour varied greatly, ranging from 4 years of age to current series only 2 patients presented with painful swelling 75 years. 9 patients (34.61%) were less than 18 at the time of (one each of Ewing’s sarcoma and rhabdmyosarcoma).Other presentation. common presenting signs were tooth mobility, tenderness, per- In the present case series, the tumors showed an almost foration of cortical plates and ulceration of overlying mucosa. equal distribution between maxilla (12 cases) and mandible Radiographic investigations are crucial not only to the di- (11 cases). One case each of maxillary buccal vestibule, man- agnosis of SOMRs but also help in tumor staging and treat- dibular gingiva and buccal mucosa was seen. ment planning. However, conventional radiographs are inad- Out of the 26 cases of SOMR, only 3 cases involved the equate for this purpose and use of special investigations such soft tissues with remaining 23 presenting within the jaws. as computerized tomography (CT) and magnetic resonance Painless swelling was seen in majority of patients ranging in imaging (MRI) is of paramount importance [11]. duration from 15 days to 11 months. History of trauma was CT and MRI help in assessing tumor size for staging, de- associated with two cases, one each of osteosarcoma and termining extent of tumor including intramedullary and Sarcomas of the Oral and Maxillofacial Region: Analysis of 26 Cases with Emphasis on Diagnostic Challenges Table 1 Summary of thePatients with Sarcomas of the Oral and Maxillofacial Region (SOMR) Case No. Histological Diagnosis Sex Age (Yrs) Site Treatment S- Surgery Adjuvant Recur Survival Status C- Chemotherapy treatment (In Months) R- Radiotherapy 1. Osteosarcoma M 18 Post. Mandible S C – 90 Alive 2. Osteosarcoma M 65 Post. Mandible S C 12 months 19 Dead 3. Osteosarcoma M 21 Post. Maxilla S –– 38 Alive 4. Osteosarcoma M 22 Ant. Maxilla S C + R – 61 Alive 5. Osteosarcoma M 60 Post. Maxilla S C – 26 Dead 6. Osteosarcoma M 18 Post. Maxilla S –– 12 Dead 7. Osteosarcoma F 14 Ant. Maxilla S – 11 Alive 8. Ewing’s Sarcoma M 17 Ant. Maxilla R C – 119 Alive 9. Ewing’s Sarcoma M 30 Ant. Mandible S C after 60 months 120 Alive 10. Ewing’s Sarcoma M 18 Post. Mandible S C – 54 Alive 11. Ewing’s Sarcoma M 4 Post. Mandible S C + R – 33 Alive 12 Ewing’s Sarcoma F 15 Post. Mandible S C – 50 Alive 13. Chondrosarcoma M 75 Post. Maxilla S –– 25 Dead 14. Chondrosarcoma M 40 Post. Mand. S –– – Lost To Follow-Up 15. Chondrosarcoma, Extraskeletal M 21 Max Buccal Vestibule S R Within 1 Month 78 Alive 16. Leiomyosarcoma F 21 Ant. Maxilla S R 3 months 24 Dead 17.