Surgical Treatment of Congenital Rhabdoid Tumor in a 10-Day-Old Newborn Valerio Ramieri, MD,* Emanuela Basile, MD,* Nikhil Carlo Cascone, MD,Þ Paolo Arangio, MD,* Claudio Ungari, MD,* Paolo Gennaro, MD,* Andrea Di Cataldo, MD,þ Angela Sementa, MD,§ Mario Giuseppe Romeo, MD,|| Anna Clerico, MD,# Milena La Spina, MD,þ Salvatore D’Amico, MD,þ Maria Licciardello, MD,þ Pietro Milone, MD,¶ and Piero Cascone, MDS* Background: Malignant rhabdoid tumors are rare and aggressive tumors of pediatric age. The primary tumor can occur in different localizations, but it mainly involves kidney, soft tissue, or central nervous system. It has been associated to a poor diagnosis. Methods: The authors present the case of a 10-day-old newborn affected by a bulky nasofronto-orbitary neoplasm. The patient under- went radical surgical treatment and further excision of a preauricular metastasis combined with postoperative chemotherapy treatment. Results: The authors adopted a diagnostic and therapeutic protocol according to international guidelines, not without difficulty because the first histological report showed esthesioneuroblastoma. The rarity and aggresivity of rhabdoid tumor and the precocity of onset in our patient presented a difficulty to define prognostic factors and survival rates, as well as therapeutic plan of treatment. Conclusions: The authors underline the importance of a correct prenatal diagnosis and an early surgical treatment to reach the com- plete healing of the patient. Key Words: Malignant rhabdoid tumor, Surgical treatment of rhabdoid tumor, Congenital tumor (J Craniofac Surg 2013;24: 523Y525) M alignant rhabdoid tumors (MRTs) are highly aggressive neo- plasms that were first described in young children with renal primaries. 1Y3 The tumor was classified as a distinct entity in an analysis of the First National Wilms’ Tumor Study cohort in 1978. It was recognized as rhabdomyosarcomatoid variant of Wilms tumor, with poor prognosis. 3,4 The primary tumor can involve different localizations. Its manifestations occur often in the kidney, soft tissue, and central nervous system. According to origin tissue, the rhabdoid tumor family is divided into 3 categories, with approximately equal dis- tribution: (1) primary central nervous system lesions, defined atyp- ical teratoid rhabdoid tumor, associated with low incidence of metastases outside the central nervous system, (2) renal primaries, and (3) soft tissue primaries. The latter typically relate to widespread metastatic disease. 5 The incidence of MRT/atypical rhabdoid tumor is not de- fined; however, European data indicate 0.1 to 0.5 per million chil- dren per year. 6 Rhabdoid tumors, not involving the kidney, are very rare. Their incidence is 5 of 155,926 consecutive biopsies in 4 children’s hospitals. 6 Renal MRT affects infants and young children; in contrast, extrarenal tumors have a bimodal age of distribution, characterized by one peak in early infancy and a second peak in later childhood. 7 The MRT is histologically defined by solid sheets of cells, intracytoplasmic acidophilic filamentous inclusion, and displaced nuclei. These cells resemble rhabdomyoblasts. The appellative rhabdoid was accorded to this tumor for its resemblance to rhab- domyosarcoma, on light microscopy, but now the lack of correlation with it is ascertained. It has a different ultrastructural and immu- nohistochemical pattern. 4,8 The diagnostic confirmation comes from cytogenetic and molecular genetic analyses. Cytogenetic analysis demonstrated monosomy 22 or loss of a band in 22q11. 9 Molecular genetics re- vealed the presence of mutations in hSNF5/INI11 gene, mapped to chromosome 22. 10 It could be considered the hallmark of atypical teratoid/rabdoid tumors, especially in children. Moreover, the lack of immunohistochemical staining for the INI1 gene product is help- ful for definitive diagnosis. 11 A strong correlation between younger age and poorer out- come in MRT/atypical teratoid rhabdoid tumor is established. 12 Treat- ment of MRTis based on chemotherapy, surgery, and irradiation. 13 We present the case of a 10-day-ol child affected by bulky frontonasal-orbital rhabdoid tumor. We constituted a multidisciplin- ary team, which was composed of maxillofacial surgeons, ophthal- mologists, neonatal intensive care unit physicians, radiologists, and oncologic pediatrician. In our opinion, the timely and radical surgical treatment has played relevant role in the healing of the patient. CLINICAL REPORT The authors present the case of a newborn with rhabdoid tumor. This child had a very delayed prenatal diagnosis of his mass. Indeed, it was identified only 10 days before the established delivery date. The boy was born at week 37 of pregnancy by cesarean CLINICAL STUDY The Journal of Craniofacial Surgery & Volume 24, Number 2, March 2013 523 From the *Unit of Maxillo-Facial Surgery, Universita ´ ‘‘Sapienza’’ I Facolta ´ di Medicina e Chirurgia; and †Unit of Ophthalmology, Universita ´ ‘‘Sapienza’’ di Roma II Facolta ´ di Medicina e Chirurgia, Roma; ‡Unit of Pediatric He- matology and Oncology, Universita ´ di Catania, Catania; §Unit of Pathology, Gaslini Institute, Genoa; ||Unit of Neonatal Intensive Care, Universita ´ di Catania, Catania; #Unit of Pediatric Hematology and Oncology, Univer- sita ´ ‘‘Sapienza’’I Facolta ´ di Medicina e Chirurgia, Roma; and ¶Unit of Ra- diology, Universita ´ di Catania, Catania, Italy. Received October 11, 2012. Accepted for publication November 25, 2012. Address correspondence and reprint requests to Emanuela Basile, MD, Dipartimento di Chirurgia Maxillo Facciale, Universita ´ ‘‘Sapienza’’ I Facolta ´ di Medicina, Viale Regina Elena 324, Roma, Italia; E-mail: emanuela.basile1985@gmail.com The authors report no conflicts of interest. Copyright * 2013 by Mutaz B. Habal, MD ISSN: 1049-2275 DOI: 10.1097/SCS.0b013e31828043bd Copyright © 2013 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.