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A rare case of bilateral multifocal breast masses in a child with disseminated rhabdomyosarcoma.

INTRODUCTION

Rhabdomyosarcoma is the most common soft tissue sarcoma of childhood and adolescence, which occurs in any anatomic location, mostly in the head, neck or genitourinary tract. (1) The usual presentation is as rapidly enlarging soft tissue masses, which on sectional imaging appears as predominantly peripherally and heterogeneously enhancing solid lesions. (2)

They cause localised pressure effects on neurovascular structures, and adjacent bony destruction seen in over 20% of cases. (2) Metastases to regional lymph nodes, lung and bones occur with advanced stages of the disease.

The imaging findings overlap with other childhood malignancies if disseminated and needs pathological correlation for accurate diagnosis.

CASE REPORT

A thirteen year old girl presented with low back ache and progressive paraparesis of one month duration. Physical examination revealed bilateral breast lumps. Neurological examination showed features of compressive myelopathy at thoracic level.

Radiological evaluation of the girl was done with chest radiography (Figure 1), breast ultrasound (Figure 2), CT thorax (Figure 3,4) and MRI spine (Figure 5,6,7).

The constellation of findings noted were bilateral multiple breast masses of which largest of approximately 10 x 10cm was noted on the right side, bilateral axillary lymphadenopathy, right pleural effusion, right posterior chest wall mass with features of rib infiltration and a right paraspinal posterior mediastinal mass with spinal invasion.

The masses were heterogenous with infiltrative margins and showed strong inhomogenous post contrast enhancement.

Radiological features favoured an aggressive disseminated malignant process.

A biopsy (Figure 8) was taken from the largest lesion in the right breast, which showed evidence of metastases from small round cell neoplasm. Immunohistochemistry (Figure 9) was done that found the cells to be positive for desmin and myogenin. Thus the diagnosis of disseminated rhabdomyosarcoma was confirmed.

DISCUSSION

Rhabdomyosarcoma though the most common soft tissue malignancy of childhood, presenting as multiple solid masses involving bilateral breasts, chest wall and paraspinal region is extremely rare. The imaging findings are nonspecific with non-descript aggressive looking infiltrative solid masses.

Accurate diagnosis and estimation of disease load requires a thorough radiological evaluation and histopathological examination.

Disseminated multifocal solid maligancy in childhood and adolescence is a diagnostic challenge. The curious feature is that most of the diagnostic entities share a common cytological appearance of small round cells. The more common ones that can be counted as differentials in our case include peripheral neuroectodermal tumor, rhabdomyosarcoma, non-Hodgkin's lymphoma, neuroblastoma, nephroblastoma and desmoplastic small round cell tumour. (3) So the definitive diagnosis of most pediatric solid tumours requires extensive immunohistochemical markers because they often exhibit a nonspecific small round cell tumour phenotype. (4)

CONCLUSION

Rhabdomyosarcoma is to be considered among the differentials of disseminated malignancies in childhood as was seen with our case.

REFERENCES

(1.) Breitfeld P, Meyer WH. Rhabdomyosarcoma: New Windows of Opportunity. The Oncologist. 2005;10:518-527 [PubMed].

(2.) Schepper AM. Imaging of soft tissue tumors. Springer Verlag. (2006) ISBN:3540248099.

(3.) Akhtar M, Iqbal MA, Mourad W, et al. Fine-needle aspiration biopsy diagnosis of small round cell tumors of childhood: a comprehensive approach. Diagn Cytopathol. 1999;21:81-91. [PubMed].

(4.) Sebire NJ, Malone M. Myogenin and MyoD1 expression in paediatric rhadomyosarcomas. Journal of Clinical Pathology. 2003;56:412-416 [PMC free article] [PubMed].

Sherinas Rehiman [1], Jineesh T [2], V. R. Rajendran [3], Dhanej M. K [4], Juvaina P [5]

[1] Senior Resident, Department of Radiodiagnosis, Government Medical College, Kozhikode.

[2] Assistant Professor, Department of Radiodiagnosis, Government Medical College, Kozhikode.

[3] Professor and HOD, Department of Radiodiagnosis, Government Medical College, Kozhikode.

[4] Junior Resident, Department of Radiodiagnosis, Government Medical College, Kozhikode.

[5] Assistant Professor, Department of Radiodiagnosis, Government Medical College, Kozhikode.

Financial or Other, Competing Interest: None.

Submission 05-11-2015, Peer Review 06-11-2015, Acceptance 06-12-2015, Published 14-12-2015.

Corresponding Author:

Sherinas Rehiman, Zephyr, Parammal Road, Malaparamba PO, Kozhikode.

E-mail: sherinas.rehiman@gmail.com

DOI:10.14260/jemds/2015/2471
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Title Annotation:Case Report
Author:Rehiman, Sherinas; Jineesh, T.; Rajendran, V.R.; Dhanej, M.K.; Juvaina, P.
Publication:Journal of Evolution of Medical and Dental Sciences
Date:Dec 14, 2015
Words:631
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