Pleural effusion revealing a malignant rhabdoid tumor of the chest wall in an infant: A case report and literature review

Mohamed, Daoud Ali; Lamalmi, Najat

doi:10.5348/101125z01dm2020cr

Cited by 1 publication

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“…The main differential for the tumor in our case was an epithelioid sarcoma. Both tumors can have rhabdoid morphology, with a loss of INI-1 , while epithelial and mesenchymal markers are positive, whereas rhabdoid tumors express epithelial, mesenchymal, and neural markers [ 11 ], and both tumors show immunopositivity for keratins and EMA, with occasional staining for desmin and CEA. CD34 can be used as a differential tool since epithelioid sarcoma is CD34 positive in 50% of cases, while rhabdoid tumors are always negative [ 35 ].…”

Section: Discussionmentioning

confidence: 99%

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Cardiac Rhabdoid Tumor—A Rare Foe—Case Report and Literature Review

et al. 2022

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Intracardiac masses are unusual findings in infants, and most of them are benign. Nevertheless, they may be associated with a significant degree of hemodynamic instability and/or arrhythmias. Malignant tumors of the heart rarely occur in children. Rhabdoid tumors are aggressive tumors with a dismal prognosis even when diagnosed early. Although rhabdomyomas are common cardiac tumors in infants, they are mostly benign. The most common sites of involvement are the kidneys and central nervous system, but soft tissues, lungs, and ovaries may also be affected. The diagnosis can be challenging, particularly in sites where they do not usually occur. In the present paper, we report the case of a 2-year-old boy diagnosed with cardiac rhabdoid tumor highlighting the importance of molecular studies and recent genetic discoveries with the purpose of improving the management of such cases. The aim of this educational case report and literature review is to raise awareness of cardiac masses in children and to point out diagnostic hints toward a cardiac tumor on various imaging modalities. Given the rarity of all tumors involving the heart and the lack of symptom specificity, a high degree of suspicion is needed to arrive at the correct diagnosis.

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Section: Discussionmentioning

confidence: 99%

“…Diagnosis is challenging, but immunohistochemical evaluation allowing detection of INI-1 loss has made the diagnosis of this entity easier. INI-1 loss reflects the presence of SMARCB1 mutations, a sensitive marker for malignant rhabdoid tumors [ 11 ].…”

Section: Introductionmentioning

confidence: 99%