1. SALL4 and C-kit positive malignant extrarenal rhabdoid tumor of the pelvis in a child: A diagnostic and therapeutic challenge
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Pahwa, Saloni, Pasricha, Sunil, Kapoor, Gauri, Jajodia, Ankush, Koyyala, Venkata Pradeep Babu, and Mehta, Anurag
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Gene mutations -- Health aspects ,Immunohistochemistry -- Research ,Kidney cancer -- Diagnosis -- Care and treatment -- Genetic aspects ,Tumors in children -- Diagnosis -- Care and treatment -- Genetic aspects ,Biological markers -- Identification and classification -- Health aspects ,Health - Abstract
Extrarenal rhabdoid tumors (ERRTs) are highly aggressive pediatric tumors with very few cases reported in the literature. These tumors, similar to their renal counterparts, are characterized by inactivating mutations of the SMARCB1/INI-1 gene, a member of the SWI/SNF chromatin remodeling pathway. Diagnosis of ERRTs appears challenging owing to its rarity, varied morphological profile with a higher tendency for rhabdoid differentiation, and overlapping features with other SMARCB-1 deficient tumors. Here, we report a case of ERRT in the pelvis of a three-year-old child with an unusual expression of SALL4 and C-kit on immunohistochemistry. A complete immunohistochemical workup might help in differentiating ERRTs from other SMARCB1/INI1-deficient soft tissue tumors. The expression of stem cell markers in the presented case also suggests that these tumors might originate from or share similarities with embryonic stem cells or germ cells. Keywords: Extrarenal rhabdoid tumor, pediatric tumors, SMARCB1, Author(s): Saloni Pahwa [1]; Sunil Pasricha (corresponding author) [1]; Gauri Kapoor [2]; Ankush Jajodia [3]; Venkata Pradeep Babu Koyyala [4]; Anurag Mehta [5] INTRODUCTION Malignant rhabdoid tumors (MRTs) are rare, [...]
- Published
- 2024
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