Concurrent Cutaneous and Retropharyngeal Rhabdoid Tumors in a Female Infant: A Rare Case Report and a Review of the Literature

Abstract

Rhabdoid tumors are rare tumors that are usually diagnosed in the pediatric population and originate from renal tissues. Extrarenal rhabdoid tumors are even rarer, aggressive, and more difficult to diagnose than rhabdoid tumors. In our case, a 3-month-old female infant presented with deteriorating respiratory symptoms of stridor and dyspnea, with septic shock and multiple subcutaneous nodules involving the axilla and back. Physical examination revealed multiple nontender and mobile nodules on the right axilla and the back. Computed tomography scan revealed a retropharyngeal mass with signs of lung infiltration. An excisional biopsy of the axillary mass with immunohistochemistry confirmed the diagnosis of an extrarenal rhabdoid tumor. However, the patient died from septic shock shortly before the tissue diagnosis was established. Rhabdoid tumors are rare malignancies that require a high suspicion index. Nonregressive infantile nodules should raise suspicion of a sinister cause and should not be dismissed prematurely. Outcomes remain poor due to diagnostic and therapeutic delays and limitations.

Keywords

case report - malignant rhabdoid tumor - SMARCB1 - extrarenal rhabdoid tumor - multifocal

Introduction

Rhabdoid tumors are rare, aggressive tumors with a poor prognosis and a high tendency to metastasize.[1] They appear mainly in infants and most commonly involve the kidney, which makes them the second most common malignant renal tumors in neonates after Wilms tumors.[1] [2]

Despite belonging to the family of primary renal tumors, rhabdoid tumors may also be found in different extrarenal sites. Hence, this tumor is situated mainly on the central body-axis, such as in the central nervous system (CNS), it is also known as atypical teratoid/rhabdoid tumor. These tumors are present in the mediastinum, the head and neck area,[1] [3] and, rarely, the skin where the metastatic nodules give the appearance of a “blue muffin baby syndrome.”[4] [5] Even rarer forms of rhabdoid tumors include the rhabdoid tumor predisposition syndrome (RTPS), which is characterized by having a germline mutation in one of the rhabdoid tumor-causing genes and an increased risk of metastasis.[3] Presentations vary depending on the site of the primary tumor. Symptoms commonly include flank pain and hematuria in cases with renal origin of tumor.[6] In contrast, for extrarenal cases, recurrent urinary tract infections, frequent urination, and hematuria are common with bladder involvement,[7] and epigastric pain is common with liver involvement.[1] Also, similar to other malignancies, rhabdoid tumors may present with septic shock.[8]

Two genes have been commonly identified as a part of the pathology of rhabdoid tumors: tumor suppressor genes SMARCB1 (INI1) and SMARCA4 (BRG1) on chromosomes 22 and 19, respectively. Both are members of the adenosine triphosphate (ATP)-dependent SWItch gene (SWI)/Sucrose Non-Fermentable gene (SNF) chromatin-remodeling complex.[9] Mutations of SMARCB1 are associated with RTPS type 1 and are attributed to 90% of malignant rhabdoid tumors; SMARCA4 mutations are associated with RTPS type 2 and have also been implicated in other malignancies such as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).[10] Additionally, given its location on chromosome 22, RTPS type 1 can be associated with the dysmorphic phenotype of DiGeorge syndrome and various types of congenital anomalies. Surprisingly, mutations of SMARCB1 and SMARCA4 are associated with Coffin–Siris syndrome without having an increased risk of malignant rhabdoid tumor.[10]

Due to the rare and aggressive nature of the condition, a single, unified approach or guideline for the diagnosis and treatment of rhabdoid tumors remains elusive.[11] Treatment may involve surgery, chemotherapy, radiotherapy, and even stem cell transplant.[12] Here, we present a rare case of extrarenal, extra-CNS rhabdoid tumor associated with congenital anomalies. Reporting such presentations contributes to physicians' awareness of this rare condition and can hopefully help avoid lengthy delays in diagnosis. This case report has been reported in line with the Surgical CAse REport 2020 criteria.[13]

Case Presentation

A full-term, vaginally delivered 3-month-old female presented to the emergency department with progressive shortness of breath and stridor, which started 2 months before presentation and exacerbated suddenly 1 hour before reaching the emergency room. Upon evaluation, the baby was drowsy and demonstrated signs of poor oral feeding and weight loss. During the physical examination, multiple nontenders and mobile cutaneous nodules with overlying redness were noticed on the right axilla and the back. The nodules had also appeared 2 months before the present evaluation and had exhibited progressive growth ([Fig. 1]).

Fig. 1 Clinical picture: cutaneous nodules on the right axilla.

The patient was given antibiotics for her respiratory symptoms. At the same time, her nodules were diagnosed clinically as multiple hemangiomas, for which she was sent for an ultrasound (US). The US revealed a well-defined, mildly hypoechoic, rounded nodule. It was hypervascularized, with a peak systolic velocity of 30 cm/s. A 0.3-cm hypoechoic mass was detected in the liver as well. These findings increased the suspicion of an infantile melanoma with liver metastasis, prompting computed tomography (CT) imaging and biopsy. CT of the neck, abdomen, chest, and pelvis revealed a large, 3.5 × 3 × 3 cm, ill-defined, heterogeneous, enhancing retropharyngeal mass extending to the skull base, with small areas of hypodensities suggesting necrosis ([Fig. 2A] and [B]), and another well-defined, heterogeneous, enhancing, subcutaneous mass in the right axilla measuring 2.1 × 1.3 × 1.7 cm ([Fig. 2C] and [D]), as well as a third well-defined, retroperitoneal, hypodense, cystic lesion with a thickened enhanced wall near the right adrenal gland, measuring 1.1 × 1.2 × 2.1 cm. Additionally, the presence of multiple bilateral lung micronodules suggested metastasis. Horseshoe kidney was also noted.

Fig. 2 Computed tomography (CT) scan: (A and B) retropharyngeal heterogeneously enhancing soft tissue mass lesion with central necrosis, the mass extending to the skull base, and (C and D) heterogeneously enhancing subcutaneous mass lesion in the right axilla.

An excisional biopsy of the axillary mass was taken a month after the CT. The sample was 6 × 4.5 × 3.5 cm in size, with a 1.5 × 1.5 cm ulcer at the central area of necrotic skin. Under the microscope, sections showed a tumor composed of sheets of cells with abundant cytoplasm, eosinophilic hyaline globules, and vesicular nuclei with prominent nucleoli. Other focal areas showed spindle cell morphology and multinucleated giant cells, with areas of prominent nuclear pleomorphism, tumor necrosis, and increased mitotic activity ([Fig. 3A–C]).

Fig. 3 Microscopic pictures of the tumor: (A) tumor composed of sheets of cells with abundant cytoplasm, eosinophilic hyaline globules, and vesicular nuclei with prominent nucleoli, (B) focal areas of spindle cell morphology, and (C) high power shows prominent nuclear pleomorphism, tumor necrosis, and increased mitotic activity.

Tumor cells were positive for pan-cytokeratin (pan-CK) and epithelial membrane antigen and focally positive for SALL4, CK19, and CK7. They were negative for CD34, CD31, S100, HMB45, desmin, CD99, myogenin, smooth muscle actin, synaptophysin, chromogranin, CK5/6, CK20, and P63. The specimen was sent to the histopathology center at King Hussein Cancer Center for immunohistochemistry as the tests were unavailable in the Gaza Strip. BAF−47 “INI-1” immunohistochemistry was lost within the cells, indicating the absence of the INI-1 protein, as depicted in [Fig. 4A–C].

Fig. 4 Immunohistochemistry pictures of the tumor: (A) tumor cells positive for pan-cytokeratin (pan-CK), (B) tumor cells are positive for epithelial membrane antigen (EMA), and (C) INI-1 (BAF-47) loss within tumor cells.

While waiting for the tissue diagnosis, the patient presented unconscious and in septic shock due to pneumonia, which required admission to the pediatric intensive care unit and mechanical ventilation. Unfortunately, she passed away a few days later before her final diagnosis of an extrarenal rhabdoid tumor involving the skin and retropharyngeal space with an undefined primary was discerned. The patient family history and antenatal scans were unremarkable for any malignancy or masses.

Discussion

This report derives significance from the rarity and widespread nature of a histologically and immunologically confirmed extrarenal, extra-CNS rhabdoid tumor involving the retropharyngeal space and skin simultaneously. The rapid progression, critical clinical presentation, and early death of the patient impacted the diagnostic workup. Thus, the radiological and histopathological findings in our case suggest two hypotheses regarding the final diagnosis. The tumors could represent a multifocal rhabdoid tumor involving both the skin and the retropharyngeal space, which may be seen in conditions with germline mutations such as the rhabdoid tumor predisposing syndromes. Alternatively, it is also possible that one of the masses represented a primary extrarenal rhabdoid tumor and the second a metastasis of this primary. The authors believe the first hypothesis to be more plausible. This is supported by the absence of rhabdoid tumors with peri- or retropharyngeal metastasis in the literature, in addition to the fact that cutaneous metastasis from nonhematopoietic childhood malignancies is rare.[14] Furthermore, renal anomalies such as horseshoe kidney increase the suspicion of germline mutation. Horseshoe kidneys have been reported with chromosomal abnormalities and may run in some families, indicating a genetic contribution. The condition also carries an increased risk of developing renal malignancies such as Wilms tumor.[15] Finally, the median age of patients with germline mutation was stated to be 5 months in contrast to the median age of 18 months in sporadic cases.[16]

In our review of the literature, 1,130 titles and abstracts were identified using the search terms [“Rhabdoid tumor” AND (“Case report*” OR “Case series*”)] in the PubMed database. Of those, we found 34 relevant previous cases, of which 12 were multifocal, 6 were primary pharyngeal, and 16 were of a primary cutaneous origin ([Table 1]). Twenty out of 34 (58.8%) were males, 13 (38.2%) were newborns. The multifocal cases were identified based on genetic analysis and/or histopathological variations between tumor samples.

Table 1 Comparison between some cases from the literature

Multifocal rhabdoid tumor
Case number	Age/Sex	Location	Metastasis	Symptoms	Genetic characteristic of tumor	Management	Outcome	Notes
Case 1[18]	2 years/M	4th ventricle	Not present	Vomiting Hydrocephalus	No expression of SMARCB1 (INI1) on immunohistochemistry Deletion in 22q encompassing the SMARCB1 gene on genetic analysis	Gross total resection Intrathecal chemotherapy Focal radiotherapy	Remission for 10 years	Metachronous tumors with the CNS lesion appeared at 2 years and the renal lesion appeared at 11 years
		Kidney				Nephrectomy	No recurrence two years after the surgery
Case 2[19]	6 months/M	Subependymal mass brain involvement Intralymphatic involvement of the lungs, thymus, and epicardium	Not present	Respiratory symptoms	No expression of SMARCB1 (INI1) on Immunohistochemistry Deletion of SMARCB1 gene on genetic analysis	Not established	Died before establishing the diagnosis
Case 3[20]	2 months\M	Cerebellar vermis	Not present	Vomiting Hydrocephalus	No expression of SMARCB1 (INI1) on immunohistochemistry Nonsense mutation of the SMARCB1 gene on genetic analysis	External shunt for hydrocephalus Total removal of the cerebellar mass Chemotherapy Radiotherapy	Died at 1 year	Multiple new tumors emerged and disseminated throughout patient life and body
		Kidney				Nephrectomy Chemotherapy Resection of the recurrent masses Radiotherapy
Case 4[21]	Newborn/F	Orbit	Not present	Mass affect Vomiting	No expression of SMARCB1 (INI1) on immunohistochemistry Deletion in 22q encompassing the SMARCB1 gene on genetic analysis	Gross total resection chemotherapy	Full remission without recurrence for 4.5 years	The CNS lesion appeared 4.5 months after orbital lesion which appeared at birth
		Lateral ventricle				Gross total resection chemotherapy
Case 5[22]	8 months/M	Cerebellum	Not present	Mass affect Neurological deficit Vomiting Hematuria	Not stated	Gross total resection chemotherapy	Died 6 months after the surgery
		Kidney				Nephrectomy Chemotherapy
Case 6[23]	4 months/M	Lateral ventricle	Regional lymph node of the kidney and lung	Mass affect Vomiting Hydrocephalus Drowsiness	Loss of chromosome 22 on genetic analysis	Gross total resection ventricular- peritoneal shunt Chemotherapy	Died 6 months after the first presentation	The renal mass appeared 5 months after the CNS lesion
		Kidney			Partial deletion of chromosome 22 on genetic analysis	Nephrectomy
Case 7[24]	11 months/F	Pineal gland and frontal lobe	Not present	Mass affect drowsiness	No expression of SMARCB1 (INI1) on immunohistochemistry Positive ASCL1 on immunohistochemistry Mutation of SMARCB1 gene on genetic analysis	Gross total resection of frontal mass Chemotherapy Tamoxifen	Complete remission for 8 years	Metachronous tumors with the CNS lesions appeared 8 years before the soft tissue lesion
		Thigh			Positive ASCL1 on immunohistochemistry Mutation of SMARCB1 gene on genetic analysis	Chemotherapy Mass resection	Complete remission for 3 years
Case 8[25]	Newborn/M	Orbit parotid gland	Not present	Mass affect	No expression of SMARCB1 (INI1) on immunohistochemistry Mutation of SMARCB1 gene on genetic analysis	Chemotherapy Parotidectomy	Complete remission for 18 months
Case 9[26]	7 months/F	Neck Cerebellar Vermis Lung	Not present	Neurological deficit Hydrocephalus	No expression of SMARCB1 (INI1) on immunohistochemistry Mutation of SMARCB1 gene on genetic analysis	Chemotherapy Radiotherapy Ventricular- peritoneal shunt	Died 10 months after diagnosis
Case 10[27]	7 weeks/F	Posterior fossa	Not present	Vomiting Hydrocephalus	No expression of SMARCB1 (INI1) on immunohistochemistry Mutation of SMARCB1 gene on genetic analysis	Gross total resection chemotherapy	No recurrence 2 years after presentation
		Kidney				Nephrectomy Chemotherapy
Case 11[28]	2 weeks\M	Orbit Fourth ventricle	Not present	Mass affect	Mutation of SMARCB1 gene on genetic analysis	Tumor resection Chemotherapy	No recurrence 2 years after the surgery
Case 12[29]	10 days/F	Bladder	Not present	Pain Vomiting Failure to thrive	No expression of SMARCB1 (INI1) on immunohistochemistry Mutation of SMARCB1 gene on genetic analysis	Tumor resection	Died at 50 days of his life
		Lateral ventricle				Not established
Pharyngeal and peripharyngeal rhabdoid tumors
Case 13[30]	3 days/M	Retropharyngeal space	Not present	Respiratory symptoms Mass affect	Not stated	Not stated	Not stated
Case 14[31]	60 years/M	Parapharyngeal space	Not present	Mass affect Neurological deficit Pain	Not stated	Parotidectomy and partial mandibulectomy	Not stated	The tumor arose from parotid adenoma and extended to occupy the parapharyngeal space
Case 15[32]	27 months/F	Retropharyngeal space	Not present	Respiratory symptoms	Not stated	Chemotherapy Radiotherapy	Died 8 months after diagnosis
Case 16[33]	Newborn/F	Pharynx	Heart Lung Liver Kidney	Mass affect	No expression of SMARCB1 (INI1) on immunohistochemistry Positive expression of SMARCA4\BRG1 on immunohistochemistry Somatically acquired homozygous detection of SMARCB1 gene on genetic analysis	Not established	Born death
Case 17[34]	20 months/M	Retropharyngeal space	Not present	Respiratory symptoms Neurological deficit	Not stated	Chemotherapy Tumor resection	Died days after initiation of chemotherapy
Case 18[35]	20 months/F	Retropharyngeal space	Lymph nodes	Mass affect	No expression of SMARCB1 (INI1) on immunohistochemistry	Chemotherapy Palliative care	Recurrence of the tumor over 3 months of the first regression	Palliative care started after the recurrence of the tumor
Cutaneous rhabdoid tumors
Case 19[36]	42 years/M	Leg	Not present	Mass affect	Not stated	Not stated	Not stated
Case 20[37]	Newborn/F	Forearm	Soft tissue of the axilla	Mass affect	No expression of SMARCB1 (INI1) on immunohistochemistry	Above elbow amputation Chemotherapy Radiotherapy	Patient died 6 months after therapy initiation
Case 21[38]	29 years/M	Head	Lung lymph nodes	Mass affect	No expression of SMARCB1 (INI1) on immunohistochemistry	Tumor resection Chemotherapy Radiotherapy	General condition is good 6 months after surgery, despite of no regression of the metastasis
Case 22[39]	Newborn/M	Back	Not present	Mass affect	Not stated	Tumor resection Chemotherapy Radiotherapy	Complete remission after 4 years of diagnosis
Case 23[40]	Newborn/F	Scalp	Brain	Mass affect	No expression of SMARCB1 (INI1) on immunohistochemistry	Tumor resection chemotherapy Palliative care	Died at age of 10 months	Despite negative SMARCB1 (INI1) expression on immunohistochemistry no mutation was detected on genetic analysis
Case 24[41]	Newborn/F	Chest	Bone marrow Lung	Mass affect	Normal gene analysis using FISH	Tumor resection chemotherapy	Died after 12 months due of lung metastasis
		Axilla				Chemotherapy
		Elbow				Chemotherapy distal humorous amputation
Case 25[42]	27 years/M	Palm	Lymph nodes	Mass affect	No expression of SMARCB1 (INI1) on immunohistochemistry	Tumor resection chemotherapy Radiotherapy	Complete remission for 12 months after surgery
Case 26[43]	Newborn/M	Forehead	Bone marrow	Mass affect	No expression of SMARCB1 (INI1) on immunohistochemistry Positive expression of SMARCA4\BRG2 on immunohistochemistry	Chemotherapy	Died at 4 days
Case 27[44]	53 years/F	Calf	Lymph nodes Lung Adrenal gland Iliac Bone	Mass affect Pain	Not stated	Tumor resection chemotherapy	Died 8 months after presentation
Case 28[45]	1 day/F	Leg Foot Clavicle Groin	Liver	Mass affect	No expression of SMARCB1 (INI1) on immunohistochemistry	Chemotherapy	Died at 10 weeks
Case 29[46]	Newborn/F	Back	Not present	Mass affect	Not stated	Tumor resection	Patient died 9 months after diagnosis
Case 30[47]	Newborn/M	Back	Occipital lobe	Mass affect	Not stated	Tumor resection	Died at 19 months
Case 31[48]	Newborn/M	Scapula	Mediastinum Axilla Chest wall Lung Thymus Scalp Midbrain Pons	Mass affect	Not stated	Chemotherapy surgical excision Palliative care	Died days after establishing palliative care
Case 32[49]	Newborn/M	Scapula	Lymph node Chest wall Lung Scalp Thymus Midbrain	Mass affect	Not stated	Chemotherapy	Died 3.5 months after presentation	Tumor arose from neurovascular hematoma
Case 33[50]	Newborn/M	Scalp Parotid region	Porta hepatis Adrenal gland Kidney	Mass affect	No expression of SMARCB1 (INI1) on immunohistochemistry	Propranolol Palliative Chemotherapy	Died at 60 days of life
Case 34[51]	1 month/M	Scalp	Not present	Mass affect	No expression of SMARCB1 (INI1) on immunohistochemistry	Tumor resection Chemotherapy	Not stated

Abbreviations: CNS, central nervous system; F, female; FISH, fluorescence in situ hybridization; M, male.

All multifocal cases (except case 5 where multifocality was established based on histopathology only) had germline mutations of the SMARCB1 gene, consistent with RTPS1. The histopathological variations were confirmed in the cases 5, 6, 7, and 12. Tumors involving both the kidney and the CNS simultaneously were common among the multifocal cases (1, 3, 5, 6, and 10). Overall, immunohistochemistry tests and evaluation of the SMARCB1 (INI1) protein expression were employed in over half the cases (19 out of 34 cases). The remaining cases (5, 6, 11, 13, 14, 15, 17, 19, 22, 24, 27, 29, 30, 31, and 32) were not evaluated for SMARCB1 (INI1) protein expression and sufficed with only genetic testing and/or other immunohistochemistry markers that differentiate rhabdoid tumor from other histologically resembling tumor such as primitive neuroectodermal tumor and tumors of muscle cell origin.

Similar to our patient, cases 6, 16, 21, 24, 27, 31, and 32 had lung metastasis. Also, cases 20, 22, 23, 28, 29, 33, and 34 had their cutaneous lesions preliminarily diagnosed as hemangiomas before suspecting a malignant tumor. The presenting symptoms and physical findings varied according to tumor location and extent. They included respiratory symptoms, mass effect, neurological deficits, pain, vomiting, failure to thrive, hydrocephalus, hematuria, and drowsiness as depicted in [Table 1]. From these diverse presentations, one infers that there is a need for a sensitive and cost-effective approach to differentiate this tumor from other similar conditions.

Our patient presented with suspicious findings on imaging that usually require urgent intervention. However, the excisional biopsy was delayed a month after the CT scan, as the image was sent to a specialized center outside the country for proper interpretation. This delay impacted the timing of management and most likely contributed to the unfortunate outcome of this patient. Similar to our case, two other cases (cases 2 and 16) died during the process of diagnosis, which highlights the aggressive nature of the tumor. Different management modalities were utilized, including surgical resection of the tumor, radiotherapy, chemotherapy, and, often, combinations of these modalities ([Table 1]). Poor outcomes were reported in most cases, although a few showed complete remission without recurrence or residual tumors (1, 4, 7, 8, 10, 11, 22, and 25). Management of these cases involved surgical resection, radiotherapy, and various chemotherapy protocols, such as the Rhabdoid 2007 Protocol (case 4), closed Children's Oncology Group Protocol (case 7), Euro-Ewing Protocol (case 7), and the Dana-Farber Cancer Institute Protocol (case 10). Targeted therapy on fibroblastic growth factor receptors, histone deacetylase, and other cell cycle proteins are also useful in the treatment of rhabdoid tumor.[17]

The limitations of the present report include the unavailability of genetic analysis and obtaining a biopsy from the axillary mass only. In addition, the patient's early death and the absence of a postmortem biopsy made it impossible to identify with certainty whether the tumor was a multifocal rhabdoid tumor or if the masses represented a single extrarenal primary rhabdoid tumor with metastasis.

Conclusion

Rhabdoid tumors are rare and aggressive, and they remain elusive to clinicians despite advances in radiological and histopathological diagnostics. Delayed diagnosis and the aggressiveness of the tumors contribute to the generally poor outcomes noted in patients with this condition.

Conflict of Interest

None declared.

Acknowledgments

Doctors Mohammad Dabour Asad and Hossam Hamada were the two most senior pathologists in the Gaza Strip and worked at the Pathology Department at Al-Shifa Medical Complex. Both of them primarily contributed to this study. They were killed in separate incidents during the ongoing 2023–2025 Gaza War. Their contributions to pathology services in the Gaza Strip were invaluable and difficult to replace.

Patient Consent

Written informed consent was obtained from the patient's guardian to publish this case report and accompanying images, and identifying details were omitted to guarantee anonymity.

Authors' Contributions

All authors contributed to the literature review and writing of the initial manuscript. B.A. and M.D.A. contributed to data interpretation, writing, and revision of the final manuscript. M.D.A., M.A., and A.A.-K.S. prepared the figures. All authors approved the final manuscript. A.A.-K.S. is the corresponding author.

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Artikel online veröffentlicht:
21. März 2025