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Year : 2022  |  Volume : 27  |  Issue : 6  |  Page : 670-672

Congenital malignant rhabdoid tumor of neck

Department of Pediatric Surgery, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Date of Submission10-Jan-2022
Date of Decision08-Apr-2022
Date of Acceptance04-Jun-2022
Date of Web Publication11-Nov-2022

Correspondence Address:
Jai Kumar Mahajan
Department of Pediatric Surgery, APC 3-A Room No. 3130, Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jiaps.jiaps_2_22

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Malignant rhabdoid tumors (MRT) are uncommon, highly aggressive tumors arising usually from the central nervous system and kidneys. Nonrenal and noncentral nervous systems MRT are rare in neonates. To the best of our knowledge, only five cases of congenital MRT of neck have been described till date. We present a rare case of congenital MRT of the neck in a neonate along with review of literature.

Keywords: Congenital tumor, malignant rhabdoid tumor, neck mass

How to cite this article:
Reddy M, Mahajan JK, Dhanasekaran V, Dogra S. Congenital malignant rhabdoid tumor of neck. J Indian Assoc Pediatr Surg 2022;27:670-2

How to cite this URL:
Reddy M, Mahajan JK, Dhanasekaran V, Dogra S. Congenital malignant rhabdoid tumor of neck. J Indian Assoc Pediatr Surg [serial online] 2022 [cited 2023 Mar 26];27:670-2. Available from: https://www.jiaps.com/text.asp?2022/27/6/670/360950

   Introduction Top

Malignant rhabdoid tumor (MRT) is a rare, poorly differentiated tumor and was first described as a sarcomatous variant of Wilm's tumor. It usually presents in early infancy but occasionally is diagnosed at or immediately after birth.[1] The histopathological hallmarks are cells with eosinophilic cytoplasmic inclusions and prominent nucleoli. Loss of INI1 staining is the most consistent feature on immunohistochemical staining.[2] This report describes clinical, histological, and immunohistochemical features of congenital MRT of the neck in a neonate.

   Case Report Top

A 13-day-old male baby presented to us with mass on the right side of the neck since birth. There was no associated history of noisy breathing, difficulty in feeding, or any abnormal movements of eyes or limbs. On physical examination, a firm, nontender, nonpulsatile mass measuring 6 cm × 6 cm with restricted mobility and well-defined margins was noted. The patient was further investigated with a differential diagnosis of teratoma, soft-tissue sarcoma, and neuroblastoma. Contrast-enhanced computed tomography (CECT) of the neck revealed a large, heterogeneously enhancing mass lesion of 5.1 cm × 5.5 cm × 5.6 cm size in the right posterior cervical triangle and paravertebral space. Superiorly, the lesion was eroding the occipital bone and medially displacing the tracheolaryngeal airway. Inferiorly, it was abutting the subclavian vessels with no obvious extension to the spinal canal [Figure 1]. CECT of chest and ultrasonography of the abdomen revealed normal findings.
Figure 1: (a) A 7 cm × 5 cm firm mass in the posterior triangle of the neck extending from the occipital region to supraclavicular area (b) heterogeneously enhancing mass lesion in the right posterior cervical and paravertebral space with no obvious extension into the spinal canal

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Peroperatively, a 7 cm × 5 cm firm mass was noted in the posterior triangle of the neck extending from the occipital region to supraclavicular area. The planes were well defined between tumor and the surrounding vessels and trachea. On the posterior side, the mass was not separable from the prevertebral muscles (scalenus and longus colli). The tumor was excised in-toto with excision of fibers of prevertebral muscles.

Postoperatively, the baby required ventilatory support and was gradually weaned off. However, he continued to require noninvasive continuous positive airway pressure ventilation. There was a gradual elevation of the right hemi-diaphragm and right lung collapse on chest X-ray, indicative of phrenic nerve palsy. The patient underwent diaphragmatic plication on the 27th postoperative day following which the ventilatory support could be taken off.

Histopathological examination showed a very high-grade tumor with brisk mitotic activity composed of oval to elongated cells with prominent nucleoli and moderate amount of cytoplasm. Immunohistochemistry showed loss of expression for INI-1 and variable positivity for CD99 and FLI-1, while it was negative for desmin, myogenin, and myoD1 consistent with the diagnosis of MRT [Figure 2].
Figure 2: (a) Low magnification depicting tumor cells arranged predominantly in sheets with focal perivascular accentuation (H and E, ×200); (b) High magnification depicting oval to elongated tumor cells with moderate eosinophilic cytoplasm (H and E, ×100); (c) High magnification depicting tumor cells with brisk mitotic activity (H and E, ×100); (d) High power magnification depicting the loss of INI-1 expression in the tumor cells, however, normal endothelial cells serves as internal control and show nuclear expression of INI-1 (immunoperoxidase, ×200)

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Chemotherapy was planned and the parents were explained regarding the poor prognosis and survival associated with the disease. However, they did not want to continue the treatment, following which the baby was discharged.

   Discussion Top

Congenital neck masses are present at birth which may or may not be detected antenatally and rarely, they are neoplastic. Approximately 5% of pediatric neoplasms occur in the head and neck area which commonly include teratoma, rhabdomyosarcoma, and neuroblastoma.

MRT is a rare, highly aggressive tumor commonly affecting infants and young children <2 years. Occasionally, they are diagnosed at or immediately after birth. Although originally classified as a “rhabdosarcomatoid” variant of Wilms tumor, it was later described by Beckwith and colleagues as a distinct pathological entity in 1978. The origin of MRT is still obscure, though it may arise from a pluripotent embryonic source such as neuroectoderm, as evident by its ability to exhibit epithelial, mesenchymal, and neural histologic characteristics.[1]

Nomenclature for the three recognized forms of MRT reflects their anatomic localization which include MRT of the kidney, atypical teratoid RT, involving the central nervous system, and extrarenal extracranial RT (EERT). EERT occurs more often in the perinatal period than in the older child and typically presents as a mass lesion in the head or neck region or as a widely disseminated metastatic disease without a known primary tumor. It commonly metastasizes to skin, bones, lungs, lymph nodes, brain, and liver. Affected newborns frequently experience a rapid, fulminant downhill course and early demise.[3]

A review of the literature from past 40 years identified only 72 fetal and neonatal RTs, of which 24 neonates and 9 fetuses were reported to have extrarenal-extracranial tumors. Primary neck tumors, like in our case, were noted in only four patients. Overall survival was 9.1% and the survivors had localized skin or orbital RTs, which were treated with surgical resection and chemotherapy. Average age at death was 1.5 months.[4] Tergestina et al. reported another case of MRT of the neck and the baby was delivered by ex utero intrapartum therapy to secure the airway. In view of large tumor extending into the middle cranial fossa and rapid clinical deterioration, surgery was not considered.[5]

Histologically, these tumors have a classical appearance of sheets of large, ovoid or round to polygonal cells with eccentric vesicular nuclei and prominent nucleoli, abundant cytoplasm and eosinophilic, hyaline, perinuclear inclusions. Although, marked heterogeneity is noted on immunohistochemical staining, loss of INI1 staining is the most consistent feature and most are reactive for mesenchymal (vimentin) and epithelial markers (cytokeratin, epithelial membrane antigen). MRT is genetically characterized by the inactivation of hSNF5/INI1 (SMARCB1) tumor suppressor gene on chromosome 22q, resulting in lack of normal nuclear expression of INI-1.[2]

Given the rarity of extracranial extrarenal RT, disease-specific standardized treatment protocols have not yet been systematically evaluated. Current, treatment protocols are based on a multimodal approach, combining surgery, chemotherapy, and radiotherapy. Despite many attempts to improve these regimens, the outcome is still dismal compared to most other pediatric malignancies. Tumor stage and age at presentation predict prognosis with survival increasing with age. Further studies are required to completely understand the natural course of the disease and the need for ideal treatment protocol for these highly malignant, aggressive tumors.

   Conclusions Top

Management of congenital MRTs remains a major challenge. Proper pathological and genetic evaluation is required in a timely manner for optimal therapeutic and counseling interventions.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.


The authors are thankful to Prof. Ashim Das, Department of Histopathology Postgraduate Institute of Medical Education and Research Chandigarh, for his guidance in interpretation of the histopathological findings.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

   References Top

Madigan CE, Armenian SH, Malogolowkin MH, Mascarenhas L. Extracranial malignant rhabdoid tumors in childhood: The Childrens Hospital Los Angeles experience. Cancer 2007;110:2061-6.  Back to cited text no. 1
Krishna Shetty M, Sreedhar D, Choudhary A, Prasad KK, Naik N, Prasad B. Malignant rhabdoid tumour of kidney – A rare aggressive tumour. J Clin Sci Res 2016;5:61.  Back to cited text no. 2
Cheng H, Yang S, Cai S, Ma X, Qin H, Zhang W, et al. Clinical and prognostic characteristics of 53 cases of extracranial malignant rhabdoid tumor in children. A single-institute experience from 2007 to 2017. Oncologist 2019;24:e551-8.  Back to cited text no. 3
Isaacs H Jr. Fetal and neonatal rhabdoid tumor. J Pediatr Surg 2010;45:619-26.  Back to cited text no. 4
Tergestina M, Ross B, Manipadam M, Kumar M. Malignant rhabdoid tumour of the neck in a neonate. BMJ Case Rep 2018;2018:bcr2017223145.  Back to cited text no. 5


  [Figure 1], [Figure 2]


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