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Table of Contents
IMAGE CHALLENGE
Year : 2022  |  Volume : 5  |  Issue : 1  |  Page : 131-135

Diagnostic quandary over a cheek(y) neoplasm


1 Department of Radiodiagnosis and Imaging, Tata Memorial Hospital, Tata Memorial Center and Homi Bhabha National Institute, Mumbai, Maharashtra, India
2 Department of Pathology, Tata Memorial Hospital, Tata Memorial Center and Homi Bhabha National Institute, Mumbai, Maharashtra, India
3 Department of Medical Oncology, Tata Memorial Hospital, Tata Memorial Center and Homi Bhabha National Institute, Mumbai, Maharashtra, India

Date of Submission09-Nov-2021
Date of Decision28-Nov-2021
Date of Acceptance09-Jan-2022
Date of Web Publication24-Feb-2022

Correspondence Address:
Abhishek Mahajan
Fellowship in Cancer Imaging, MRes (KCL, London), FRCR (UK) Consultant Radiologist, The Clatterbridge Cancer Centre NHS Foundation Trust, Pembroke Place, Liverpool, L7 8YA
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/crst.crst_274_21

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How to cite this article:
Shukla S, Agarwal U, Patil V, Rane S, Menon N, Noronha V, Patil V, Prabhash K, Mahajan A. Diagnostic quandary over a cheek(y) neoplasm. Cancer Res Stat Treat 2022;5:131-5

How to cite this URL:
Shukla S, Agarwal U, Patil V, Rane S, Menon N, Noronha V, Patil V, Prabhash K, Mahajan A. Diagnostic quandary over a cheek(y) neoplasm. Cancer Res Stat Treat [serial online] 2022 [cited 2022 May 28];5:131-5. Available from: https://www.crstonline.com/text.asp?2022/5/1/131/341278




  Case History Top


A 63-year-old male presented with complaints of swelling in the left side of the jaw for the past year, with recent decreased visual acuity in the left eye. Local examination revealed a 5 cm mass over the left maxilla involving the alveolus posterior to the upper second molar, hard palate, and soft palate reaching the midline. Medially, the nasal cavity was involved causing nasal alar fullness. No lymph nodes were palpable. Contrast-enhanced computed tomography of the head and neck showed a heterogeneously enhancing soft-tissue lesion with a coarse curvilinear form and some ring and arc calcifications in the left maxillary sinus measuring approximately 5.7 cm × 5.6 cm × 5.8 cm. There was associated erosion of the walls of the left maxillary sinus, with extension of the soft tissue medially into the left anterior and middle ethmoid air cells and nasal cavity. There was intraorbital extraconal extension through the floor of the left orbit. The optic nerve was uninvolved. The posterior wall of the maxillary sinus was involved, with extension of the soft tissue into the retroantral fat space reaching up to the lateral pterygoid muscle and insertional fibers of the temporalis muscle. Both the left medial and lateral pterygoid plates were involved, with the lesion extending into the pterygopalatine fossa. The lesion extended into the nasopharynx on the left side up to the fossa of Rosenmüller. Inferiorly, the lesion involved the hard palate, soft palate, and left upper alveolus with involvement of the left greater and lesser palatine canal and foramen. There was extension along the left upper gingivobuccal sulcus and buccal mucosa. There was no associated adenopathy. Contrast-enhanced magnetic resonance imaging showed a T1 isointense mass with an intermediate-to-high signal on T2-weighted images that showed heterogeneous post-contrast enhancement. Few T1 and T2 hypointense foci were seen within the lesion, which was consistent with calcifications on the computed tomography (CT) image. [Figure 1] shows the appearance of the mass on CT and magnetic resonance imaging (MRI). CT angiography further confirmed arterial supply from the maxillary branch of the left external carotid artery. Screening of the thorax and upper abdomen suggested a benign hepatic hemangioma, tiny simple cysts in the liver and right kidney, and bone island in the left third rib with no definite distant metastases.
Figure 1: Axial and coronal contrast-enhanced magnetic resonance imaging and computed tomography images of the mass epicentered in left maxillary sinus showing the following characteristics: Hypointense on T1-weighted images (a and b), Intermediate to high signal on T2-weighted images (c and d), Heterogeneous postgadolinium contrast enhancement with non-enhancing necrotic areas (e and f). The computed tomography images show a heterogeneous solid mass with areas of necrosis on the soft-tissue window (g) with stippled and arc like calcifications on the bone window (h and i)

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What is the diagnosis, and what should be done next? Once you have finalized your answer, read on.


  Differential Diagnosis and Further Management Top


Differentials of aggressive, bone eroding, solid maxillofacial tumors with internal calcifications that need to be ruled out in an adult on imaging include osteosarcoma/chondrosarcoma, squamous cell carcinoma (shows dystrophic calcification), metastasis from another primary tumor, and lymphoma (rarely erodes the bone). Histopathological examination of the biopsy from the left maxillary mass showed islands of hyaline cartilage mixed with primitive round cell tumor. Brisk mitosis, including atypical mitoses, was seen. On immunohistochemistry, the round cells were positive for MIC2, focally positive for smooth muscle actin, and negative for cytokeratin 7 (CK7), desmin, and p40. These pathological findings were consistent with mesenchymal chondrosarcoma. Histologically, this neoplasm must be differentiated from similar lesions such as Ewing's sarcoma, primitive neuroectodermal tumors (PNET), and small cell osteosarcoma. The characteristic radiological features, histopathological findings, and the frequency of occurrence of a few differentials of maxillofacial neoplasms are presented in [Table 1]. Neoadjuvant chemotherapy with doxorubicin and ifosfamide, followed by left total maxillectomy and reconstruction by free flap, was considered the optimal management plan by the multidisciplinary disease management group.
Table 1: Radiological and histological differential diagnosis of maxillofacial neoplasms

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  Final Diagnosis Top


Mesenchymal chondrosarcoma of the left maxilla.


  Discussion Top


According to the World Health Organization (WHO) classification, mesenchymal chondrosarcoma is a rare subtype accounting for around 1% of all chondrosarcomas.[1],[2] Lichtenstein and Bernstein first described this entity in 1959.[3] Mesenchymal chondrosarcoma usually affects a younger patient population as opposed to conventional chondrosarcoma. However, our patient was relatively older. Moreover, it shows no predilection for a particular sex. According to the grading systems of the French Federation of Cancer Centers Sarcoma Group, the National Cancer Institute, and the WHO classification, mesenchymal chondrosarcoma is a high-grade tumor.[4] The majority of these tumors develop in the axial skeleton. Their occurrence in the head-and-neck region is very rare, and they account for 0.1% of all head-and-neck tumors.[5] They have a predilection for the maxillofacial skeleton, with the anterior maxillary alveolus being the most common site of occurrence.[2],[4],[6] The commonly reported symptoms include swelling, mass formation, and nasal obstruction. There is also a high proportion of extraskeletal primary tumors, which are not observed in other subtypes of chondrosarcoma. Dantonello et al. reported 15 cases of histopathologically proven mesenchymal chondrosarcoma, of which 11 were extraosseous. The extraskeletal sites reported in his study include the orbit, kidney, thigh, and paravertebral/intraspinal locations.[7]

On CT imaging, mesenchymal chondrosarcoma shows a well-circumscribed mass with stippled/rim calcifications. On MRI, the non-calcified areas demonstrate isointense-to-hypointense signal intensity on T1-weighted images and are hyperintense on T2-weighted images. The tumor also shows heterogeneous contrast enhancement. The findings include calcification, hypervascularity, lobulation, and bone destruction.[2],[8] However, there are no classical radiographic features. Tumors occurring in the axial skeleton are usually large, while those in the head-and neck-region are relatively small.[2] The cut surface shows blue-gray fragments, with focal hemorrhagic areas. Thus, histopathological examination is essential to ascertain the diagnosis of mesenchymal chondrosarcoma. Microscopically, a biphasic pattern of well-differentiated chondroid elements, with an abrupt boundary from undifferentiated small round cells, is pathognomonic of the neoplasm. Areas of focal myxoid degeneration and hemorrhagic necrosis may be observed. A common histological finding is hemangiopericytoma-like growth pattern of the tumor cells around vessels. Immunohistochemically, the small round cells express CD99, while the chondroid areas express the S100 protein. Transition between the two patterns may be abrupt and may lead to an erroneous diagnosis if only a limited region is sampled. A clinical series reported that only 38% of cases could be diagnosed accurately on initial analysis.[5] The histological differentials include a small, blue, round cell neoplasm such as Ewing's sarcoma, PNET, embryonal rhabdomyosarcoma, lymphoma, and small cell osteosarcoma.[2],[5],[9] The identification of biphasic patterns, i.e., the presence of both a well-differentiated chondroid matrix and undifferentiated mesenchymal cells, is essential for an accurate diagnosis.

Diagnosing bone and soft-tissue tumors is challenging primarily because they are rare entities and also because there are many different subtypes with considerable morphological heterogeneity. Considering that most of these tumors harbor recurrent genetic alterations, the use of supplementary molecular examinations becomes significant. Further understanding of the etiopathogenesis of these tumors can be facilitated by next-generation sequencing (NGS), which allows for a more detailed genetic classification and identification of novel molecular alterations.[10] The dedifferentiated chondrosarcomas, classified as grade IV tumors, comprise 10% of all chondrosarcomas.[11] These dedifferentiated chondrosarcomas along with mesenchymal chondrosarcoma are high-grade neoplasms with a worse prognosis. NGS can be used in the diagnosis of high-grade chondrosarcomas using the dedifferentiated component (which shows excessive morphological heterogeneity) of the biopsied material for the detection of isocitrate dehydrogenase 1 (IDH1)/IDH2 mutations. In addition, IDH mutational study can be useful in distinguishing chondrosarcoma from chondroblastic osteosarcoma, since the latter does not harbor mutations in IDH1/IDH2.[10]

The primary treatment modality for mesenchymal chondrosarcoma is radical surgery with wide safe margins. The overall role of multimodality treatment with radiation and/or systemic chemotherapy remains uncertain.[2],[7],[12] Both local and distant recurrences have been reported in mesenchymal chondrosarcoma.[2],[12] The prognosis of the mesenchymal sub-type is markedly worse than that of conventional primary chondrosarcomas, with a 10-year survival rate of 20%–30%.[2],[12] A few series have reported a better prognosis than other historical studies reporting on tumors located in the sinonasal tract and jaws.[6],[5],[13] This could be attributed to more favorable tumor characteristics (e.g., smaller tumors). Wide local excision to achieve a wide surgical margin is commonly regarded as the gold standard in the treatment of mesenchymal chondrosarcoma. However, there is little evidence to demonstrate the effect of margin, perhaps due to the rarity of mesenchymal chondrosarcoma.[7],[14] Very limited efficacy of conventional chemotherapy has been observed in patients with advanced chondrosarcoma. Italiano et al. in a multi-institutional, retrospective study on 180 patients with advanced chondrosarcomas reported greater benefits in the mesenchymal and dedifferentiated subtypes.[15] Tumors with a high percentage of small cells and limited cartilage content are most sensitive to chemotherapy and radiotherapy. Previous studies have shown improved disease-free survival with the addition of chemotherapy.[16] Mesenchymal chondrosarcoma has also been shown to respond to doxorubicin-based combination chemotherapy. Patients with advanced mesenchymal chondrosarcoma should therefore be considered for adjuvant or palliative chemotherapy.[17]


  Conclusion Top


Mesenchymal chondrosarcoma is a rare, high-grade histological subtype of chondrosarcoma. There are no classical radiographic features, and the histopathological diagnosis is challenging. Therefore, it is crucial to obtain more information about the clinical behavior, pathogenesis, cytogenetics, and treatment of this rare neoplasm from more case series and prospective studies. Clinicians and pathologists should consider this rare entity in the differential diagnosis of maxillofacial neoplasms to prevent misdiagnosis and delayed intervention.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. The patient has given his consent for the images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published and due efforts will be made to conceal his identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Koch BB, Karnell LH, Hoffman HT, Apostolakis LW, Robinson RA, Zhen W, et al. National cancer database report on chondrosarcoma of the head and neck. Head Neck 2000;22:408-25.  Back to cited text no. 1
    
2.
Nakashima Y, Unni KK, Shives TC, Swee RG, Dahlin DC. Mesenchymal chondrosarcoma of bone and soft tissue. A review of 111 cases. Cancer 1986;57:2444-53.  Back to cited text no. 2
    
3.
Lightenstein L, Bernstein D. Unusual benign and malignant chondroid tumors of bone. A survey of some mesenchymal cartilage tumors and malignant chondroblastic tumors, including a few multicentric ones, as well as many atypical benign chondroblastomas and chondromyxoid fibromas. Cancer 1959;12:1142-57.  Back to cited text no. 3
    
4.
Nakashima Y, Park YK, Sugano O. In: Fletcher CD, Unni KK, Mertens F, editors. Mesenchymal chondrosarcoma Pathology and genetics of tumours of soft tissues and bone. World Health Organization Classification of Tumours. Lyon: IARC; 2002. p. 255-6.  Back to cited text no. 4
    
5.
Knott PD, Gannon FH, Thompson LD. Mesenchymal chondrosarcoma of the sinonasal tract: A clinicopathological study of 13 cases with a review of the literature. Laryngoscope 2003;113:783-90.  Back to cited text no. 5
    
6.
Vencio EF, Reeve CM, Unni KK, Nascimento AG. Mesenchymal chondrosarcoma of the jaw bones: Clinicopathologic study of 19 cases. Cancer 1998;82:2350-5.  Back to cited text no. 6
    
7.
Dantonello TM, Int-Veen C, Leuschner I, Schuck A, Furtwaengler R, Claviez A, et al. Mesenchymal chondrosarcoma of soft tissues and bone in children, adolescents and young adults: Experiences of the CWS and COSS study groups. Cancer 2008;112:2424-31.  Back to cited text no. 7
    
8.
Shapeero LG, Vanel D, Couanet D, Contesso G, Ackerman LV. Extraskeletal mesenchymal chondrosarcoma. Radiology 1993;186:819-26.  Back to cited text no. 8
    
9.
Tien N, Chaisuparat R, Fernandes R, Sarlani E, Papadimitriou JC, Ord RA, et al. Mesenchymal chondrosarcoma of the maxilla: Case report and literature review. J Oral Maxillofac Surg 2007;65:1260-6.  Back to cited text no. 9
    
10.
Szurian K, Kashofer K, Liegl-Atzwanger B. Role of next-generation sequencing as a diagnostic tool for the evaluation of bone and soft-tissue tumors. Pathobiology 2017;84:323-38.  Back to cited text no. 10
    
11.
van Praag Veroniek VM, Rueten-Budde AJ, Ho V, Dijkstra PD; Study Group Bone and Soft Tissue Tumours (WeBot); Fiocco M, et al. Incidence, outcomes and prognostic factors during 25 years of treatment of chondrosarcomas. Surg Oncol 2018;27:402-8.  Back to cited text no. 11
    
12.
Harwood AR, Krajbich JI, Fornasier VL. Mesenchymal chondrosarcoma: A report of 17 cases. Clin Orthop Relat Res 1981;158:144-8.   Back to cited text no. 12
    
13.
Takahashi K, Sato K, Kanazawa H, Wang XL, Kimura T. Mesenchymal chondrosarcoma of the jaw report of a case and review of 41 cases in the literature. Head Neck 1993;15:459-64.  Back to cited text no. 13
    
14.
Kawaguchi S, Weiss I, Lin PP, Huh WW, Lewis VO. Radiation therapy is associated with fewer recurrences in mesenchymal chondrosarcoma. Clin Orthop Relat Res 2014;472:856-64.  Back to cited text no. 14
    
15.
Italiano A, Mir O, Cioffi A, Palmerini E, Piperno-Neumann S, Perrin C, et al. Advanced chondrosarcomas: Role of chemotherapy and survival. Ann Oncol 2013;24:2916-22.  Back to cited text no. 15
    
16.
Cesari M, Bertoni F, Bacchini P, Mercuri M, Palmerini E, Ferrari S. Mesenchymal chondrosarcoma. An analysis of patients treated at a single institution. Tumori 2007;93:423-7.  Back to cited text no. 16
    
17.
Tsukamoto S, Honoki K, Kido A, Fujii H, Enomoto Y, Ohbayashi C, et al. Chemotherapy improved prognosis of mesenchymal chondrosarcoma with rare metastasis to the pancreas. Case Rep Oncol Med 2014;2014:249757.  Back to cited text no. 17
    


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