IP Archives of Cytology and Histopathology Research

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Chopra, Jindal, Joseph, Gupta, Lakhiani, and Kaur: Adult spindle cell/ sclerosing rhabdomyosarcoma of the buccal maxillary gingiva: Unique entity, a rare case report


Introduction

Rhabdomyosarcoma (RMS) is the most common childhood soft tissue sarcoma in children under 15 years of age and accounts for an estimated 4.5% of all childhood cancers. It is rare in person older than 45 year and accounts for an estimated 2- 5 % of all adult sarcomas.1 According to WHO (2013), It is subtyped into an embryonal RMS, an alveolar RMS; a pleomorphic RMS and more recently, spindle cell and sclerosing RMS (S-ScRMS). 2 The spindle cell variant was originally proposed in 1992 by Cavazzana, and was initially considered as a variant of an embryonal RMS2, 3 while sclerosing variant was first described in 2000 by Mentzel & Katenkamp and was identified as another distinctive variant of a RMS.2, 4 Several studies had described a relationship between spindle cell and sclerosing RMS that lately have emerged together as a distinct subtype of a RMS.5, 6, 7, 8Spindle cell/ sclerosing rhabdomyosarcoma is an uncommon subtype, accounting for 5-10% of all cases of RMS. It affects both children and adults, with a male to female ratio of up to 6:1.2 Due to the rarity of the cases in the literature and recent reclassification of S-ScRMS, every case report is valuable to the literature. Hence, the present case report holds a value.

Case Report

A 47-year-old male presented with a complaint of swelling over gingiva of right upper incisor since one month. The patient had history of oral injury 6 month back. Clinical examination revealed 1x1cm, soft, abscess like, non-tender, non-fluctuating mass on maxillary gingiva. X-ray demonstrated no bony changes. As the clinical findings suggested a tumorous lesion, a provisional diagnosis of gingival epulis was made. An incisional biopsy under local anesthesia was performed and sent for histopathological examination.

On microscopy, it revealed well defined tumor in supepithelium which was raising and stretching the epithelium. Tumor was composed of interlacing bundles of uniform oval to short spindle cells separated by thin septae. The cells showed mild to moderate pleomorphic, fusiform nuclei, dispersed chromatin, definite visible nucleoli and ill-defined eosinophilic cytoplasm. Many mitotic figures were seen. No necrosis. Opinion was given as spindle cell tumor (Figure 1a).

Immunohistochemistry revealed cells were positive for vimentin and strongly positive for desmin (Figure 1b). Hence suggested mesenchymal origin of tumor. Further confirmation was made by application of markers like MyoD1, CK, Ki-67. Results were positive in nuclei for MyoD1 in majority of tumor cells (Figure 1c), weak positive in aberrant pattern for CytoKeratin (Figure 1d) and 30% for Ki-67. The tumor cells were negative for SMA, Myogenin, EMA, S-100, CD34, P-63, HMB-45 & Melan-A.

Histopathology and immunohistochemistry findings were consistent with diagnosis of spindle cell/ sclerosing rhabdomyosarcoma (FNCLCC Grade 1).

After Surgery, the patient is well & there is no evidence of recurrence till now.

Table 1

Comparative studies of cases of rhabdomyosarcoma in literature

Authors

Number of cases

Year of Study

Age / Sex of the Patient

Location of swelling

Provisional diagnosis before Biopsy

Diagnosis after Biopsy

IHC Marker

Definite Diagnosis

Mina et al 9

1

2018

32y/ F

Maxillary gingiva

Nonspecific inflammatory lesion

Spindle cell sarcoma

Posiive for Desmin Myogenin MyoD1 Ki 67 >10%

Pleomorphic RMS due to less spindle-shaped cells with more remarkable nuclear pleomorphism and bizarre tumor cells.

Smith MH et al 10

3

2017

i)24y/M ii)39y/M iii)28y/M

i)mass of the right hard palate/posterior maxillary alveolar gingiva  ii) left buccal mucosa. iii) swelling in left mandibular area.

i)soft tissue tumor ii) K/C/O spindle cell variant of RMS iii)soft tissue tumor

i)Spindle cell sarcoma ii)Recurrent RMS iii)Spindle cell variant with sclerosis

i) Posiive for desmin, MSA vimentin & Myogenin

ii) Not available

iii) positivity to desmin, smooth muscle actin, myogenin, and Myo-D1

i)Spindle cell variant of RMS ii) Recurrent RMS iii) Spindle cell/ Sclerosing RMS (S-ScRMS )

Chi et al. 11

1

2007

33y/F

anterior maxillary gingiva.  

Soft tissue tumor

Spindle cell tumor

positive for desmin, myogenin, (MyoD1).

Embryonal RMS

Joy T et al. 12

1

2018

52 y/M

mandibular gingiva

Soft tissue tumor

spindle cell variant of squamous cell carcinoma

strongly & diffusely positive for desmin, diffusely & focally positive for MyoD1 and myogenin

Spindle cell RMS

Robinson JC et al. 13

1

2012

40y/ M

Mandibular gingiva and buccal mucosa

Nonspecific inflammatory lesion

high-grade pleomorphic undifferentiated sarcoma

Vimentin (+) Increased Ki-67 (>60%) , diffusely positive for desmin , myogenin, focally positive for CD99 and WT-1

Sclerosing RMS

Hartmann, S et al. 14

1

2014

41y/ M

Below tongue

soft tissue tumor

myofibrosarcoma

Positive for Desmin, Myogenin, Myo D1, Negative for Caldesmon

Spindle cell RMS

[i] Abbreviations: RMS- Rhabdomyosarcoma, SMA- smooth muscle actin, MyoD1 – Myogenic differentiation antigen 1

Table 2

Differential Diagnosis of Spindle Cell Tumors with Immunohistochemistry Markers

Tumor

Desmin

Myogenin

SMA

keratin

S100 protein

CD34

Other Markers

Synovial Sarcoma

-

-

-

+++

+/-

-

CD 56, Calretinin

Leiomyosarcoma

+/-

-

+++

-

-

Caldesmon (+)

PEComa

+/-

-

+++

-

-

-

HMB-45, Melan- A

Spindle Cell Melanoma

-

-

-

+

SOX 10 (+)

Malignant peripheral Nerve Sheath Tumor

-

-

-

-

+++

+/-

Desmin expression seen in rhaddomyoblastic elements (malignant triton tumor)

Neurofibroma

-

-

-

-

+++

+++

EMA/Claudin (+)

Nodular Fasciitis

-

-

+++

-

-

-

Rare focal desmin (+)

Spindle cell RMS

Diffuse

+

+/-

-

-

-

Myo D1 (+), Strong Myo D1 positivity in Sclerosing RMS

Spindle cell lipoma

-

-

-

-

-

+++

Loss of nuclear Rb protein expression

Perineurioma

-

-

-

-

+/-

EMA (+), Claudin-1 (+)

[i] Abbreviation s: SMA, smooth muscle actin; + positive, +++ strongly positive, - Negative, +/- occasionally positive

Figure 1

(a): Interlacing bundles of uniform oval to short spindle cells separated by thin septae. (On H & E, 40x); (b): Immunohistochemistry revealed strong positivity for Desmin (40x); (c): Immunohistochemistry revealed nuclear positivity for MyoD1 in majority of tumor cells. (40x); (d): Immunohistochemistry revealed cells positive in aberrant pattern for CytoKeratin. (40x)

https://s3-us-west-2.amazonaws.com/typeset-prod-media-server/bac2e876-67c3-40b4-8d50-95848972ceb3image1.png

Discussion

Rhabdomyosarcoma (RMS) is malignant neoplasm of mesenchymal cells. It is most common soft tissue sarcoma in children. On the contrary, it is very rare to see RMS in adults.15 Spindle cell/sclerosing rhabdomyosarcoma is a rare skeletal-muscle tumor with distinctive clinicopathologic characteristics and is designated in the WHO classification (2013) as a separate fourth broad category under RMS. 2 Spindle cell RMS (SRMS) was first reported by Cavazzana et al 3, Lesion with spindle cell morphology are commonly identified in the paratesticular region of pediatric patients,2, 16 while in adults >50% of cases affect the deep soft tissues in the head and neck. Lesion with sclerosing morphology in both age groups are most common in the limbs. 2

Histologically these tumours are characterized by predominant population of spindle neoplastic cells. Nuclear atypia, hyperchromasia and mitotic figures are common.Occasionally RMS with spindle cell morphology may show stromal hyalinization with tumor cells imparting a pseudovascular appearance, and characterizing the sclerosing variant of RMS. 2, 3

We described a case of oral spindle/sclerosing rhabdomyosarcoma in a 47-year-old male. Comparative studies of similar cases9, 11, 10, 12, 13, 14 in literature has been summarized ,please refer to Table 1.

SRMS provides a diagnostic challenge due to its similarity to other spindle cell neoplasms. Therefore, immunohistochemistry plays a pivotal role in the diagnosis of SRMS/ScRMS. The immunohistochemistry markers to rule out other differential diagnosis of spindle cell tumours is summarized (refer to Table 2).

According to WHO (2013) spindle cell RMS shows diffuse expression of desmin and positivity for SMA and myogenin. Sclerosing RMS shows limited expression of desmin and myogenin, but strongly positive for MyoD1.2 The diffuse and strong positivity for MyoD1 supports our diagnosis, as Myo-D1 has been shown to be a more sensitive marker for sclerosing variant of RMS. 10, 13

Patients with S-ScRMS demonstrate heterogenic genetic alterations that may have particular importance on prognosis.10 Recent studies focusing on SRMS-ScRMS shows a variable prognosis based on their age at diagnosis & genetic abnormalities. SRMS in infants exhibit recurrent NCOA2 and VGLL2 related fusions and are associated with a favorable outcome & long-term survival10, 17 In contrast, SRMS-ScRMS with MYOD1 mutations follow an aggressive clinical behavior and poor prognosis, irrespective of the patient's age.10, 17, 18

Most RMS are treated with conventional surgery, chemotherapy and radiotherapy.10 Despite efforts at various treatment techniques, prognosis of S-ScRMS in adults is significantly worse, with a rate of recurrence and metastasis of approximately 40-50%.2

Conclusion

Oral rhabdomyosarcoma can develop insidiously and due to variable clinical presentations and histopathological appearances, early lesions may be mistaken for inflammatory, benign neoplastic or infectious processes. Furthermore, due to the rarity of the cases in adults & recent reclassification of S-ScRMS, misdiagnosis is common. Hence, immunohistochemistry plays an important role in identification of this lesion.

Conflict of Interest

The authors declare that there are no conflicts of interest in this paper.

Source of Funding

None.

References

1 

S W Weiss J R Goldblum Rhabdomyosarcoma Weiss SW Goldblum JR Enzinger and Weiss's Soft Tissue Tumors7Elsevier2020652652

2 

D M Parham F G Barr Fletcher C. D. M. WHO Classification of Tumours of Soft Tissue and BoneIARC PressLyon2013134139

3 

A O Cavazzana D Schmidt V Ninfo D Harms M Tollot M Carli Spindle cell rhabdomyosarcoma. A prognostically favorable variant of rhabdomyosarcomaAm J SurgPathol199216229264

4 

T Mentzel D Katenkamp Sclerosing, pseudovascularrhabdomyosarcoma in adults. Clinicopathological and immunohistochemical analysis of three casesVirchows Arch2000436305316

5 

T Mentzel C Kuhnen Spindle cell rhabdomyosarcoma in adults: clinicopathological and immunohistochemical analysis of seven new casesVirchows Arch200644955460

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B Rekhi T Singhvi Histopathological, immunohistochemical and molecular cytogenetic analysis of 21 spindle cell/sclerosing rhabdomyosarcomasAPMIS2014122114452

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A F Nascimento C D Fletcher Spindle cell rhabdomyosarcoma in adultsAm J Surg Pathol20052911061119

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B Rekhi P Upadhyay M P Ramteke A Dutt MYOD1 (L122R) mutations are associated with spindle cell and sclerosing rhabdomyosarcomas with aggressive clinical outcomesMod Pathol20162915321572

9 

M H Smith D Atherton J D Reith N M Islam I Bhattacharyya D M Cohen Rhabdomyosarcoma, spindle cell/sclerosing variant: a clinical and histopathological examination of this rare variant with three new cases from the oral cavityHead Neck Pathol201711494500

10 

T Joy J V Tupkari A V Hanchate P Siwach Oral rhabdomyosarcoma in an adult male: A rare case reportJ Oral Maxillofac Pathol201822285285

11 

J C Robinson M S Richardson B W Neville T A Day A C Chi Sclerosing rhabdomyosarcoma: report of a case arising in the head and neck of an adult and review of the literatureHead Neck Pathol20137193195

12 

S Hartmann G Lessner T Mentzel A C Kübler U D Müller-Richter An adult spindle cell rhabdomyosarcoma in the head and neck region with long-term survival: a case reportJ Med Case Rep20148208208

13 

A C Chi J D Barnes S Budnick S V Agresta B Neville Rhabdomyosarcoma of the maxillary gingivaJ Periodontol20077818391884

14 

M Motallebnejad P Aminishakib S Derakhshan A Karimi Rhabdomyosarcoma of the maxillary gingivaDent Res J (Isfahan)2018158083

15 

D Khosla S Sapkota R Kapoor R Kumar S C Sharma Adult rhabdomyosarcoma: Clinical presentation, treatment, and outcomeJ Cancer Res Ther201511830834

16 

I Leuschner Newton Wa D Schmidt Spindle cell variants of embryonal rhabdomyosarcoma in the paratesticular region. A report of the Intergroup Rhabdomyosarcoma StudyAm J Surg Pathol199317221251

17 

A Owosho S Huang S Chen S Kashikar C Estilo S Wolden A clinicopathologic study of head and neck rhabdomyosarcomas showing FOXO1 fusion-positive alveolar and MYOD1 -mutant sclerosing are associated with unfavorable outcomeOral Oncol2016618997

18 

K Szuhai D De Jong W Y Leung C D Fletcher P C Hogendoorn Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcomaJ Pathol2014232300307



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© This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Article type

Case Report


Article page

217-221


Authors Details

Shikha Chopra, Richa Jindal, Molly Joseph, Bhumika Gupta, Lipakshi Lakhiani, Kuldeep Kaur


Article History

Received : 23-04-2021

Accepted : 26-05-2021

Available online : 16-09-2021


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