Klinefelter Syndrome and Neuroblastoma

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<ul><li><p>Pediatr Blood Cancer 2011;57:696</p><p>LETTER TO THE EDITORKlinefelter Syndrome and Neuroblastoma</p><p>To the Editor: Klinefelter syndrome (KS) has been associated to</p><p>increased risk of cancer in adulthood [1]. However, the absence of</p><p>epidemiological studies including children, limit the statistical data</p><p>needed to assess the risk of pediatric tumors in these patients.</p><p>Noteworthy is that, due to the lack of reported cases in the literature,</p><p>KS has been speculated as protective against neuroblastoma [2]. A</p><p>constitutional supernumerary X chromosome may protect against</p><p>neuroblastomameanwhile Xmonosomy, Turner syndrome, tends to</p><p>be prone to neurogenic tumors and gonadal tumors [3].</p><p>We report a tenmonth old child with intrauterine diagnose of KS</p><p>(47,XXYvisible onmetaphase preparations), left polycystic kidney</p><p>and arthrogryposis. A routine surveillance ultrasonography dis-</p><p>closed a right heterogeneous adrenalmasswhich contained calcium.</p><p>Ferritin, lactate dehydrogenase, and urine catecholamines and</p><p>metabolites, including vanillylmandelic acid, homovanillic acid and</p><p>dopamine, were within normal ranges. A magnetic resonance</p><p>imaging (MRI) conrmed an enlarged right adrenal gland measur-</p><p>ing 6 cm 5 cm 3.5 cm. A 123I metaiodobenzylguanidine(MIBG) scintigraphy revealed right adrenal uptake. Bone scan99Tc and bone marrow aspirates were negative. The patient was</p><p>treated with radical excision alone according to the protocol for</p><p>localized resectable neuroblastoma (LNESG2) of the International</p><p>Society of Pediatric Oncology (SIOP). He also underwent left</p><p>nephrourectomy due to non-functional left polycystic kidney. The</p><p>histological study concluded poorly differentiated neuroblastoma,</p><p>stage 2B. Cytogenetic studies showed tetraploidy by ow cytometry</p><p>and noMYCNamplication or 1p deletion by uorescence-based in</p><p>situ hybridization (FISH). Five years after initial diagnosis the</p><p>patient remains alive without remarkable events.</p><p>Reports of constitutional chromosome anomalies in children</p><p>presenting with particular embryonal tumors precludes identica-</p><p>tion of genes involved in the development of cancer. Less aggressive</p><p>tumors have been seen with viable genetic conditions, whereas</p><p>severe genetic conditions were associated with large and dissemi-</p><p>nated tumors that occurred earlier as reported by Satge et al. [4] The</p><p>numerous chromosomes and chromosome regions involved in</p><p>karyotype anomalies reported in neuroblastomas suggest that</p><p>several pathways lead to this tumor and to different tumoral</p><p>aggressivity [4]. Neuroblastoma has the highest rate of spontaneous</p><p>regression among malignant tumors, especially at younger age.</p><p>When screening programs have been undertaken, there has been a</p><p>higher incidence of neuroblastoma reported [5]. This overdiagnosis</p><p>may be due to spontaneous regression in stages 4S and in other non-</p><p>stage 4S especially if primarily located in the adrenal gland. It may</p><p>be adduced that genetic diagnosis of KS is usually made in</p><p>adolescences and early adulthood explaining the lack of reported</p><p>neuroblastomas in this age group. It is possible that lower stage</p><p>neuroblastoma is more often associated to KS in early childhood</p><p>that involutes and is not diagnosed, or that by itself excess X</p><p>chromosome prompts involution of neuroblastoma.</p><p>The casewe are reporting could have probably gone unnoticed if</p><p>the neuroblastoma had not been found by periodic abdominal</p><p>ultrasonography exams performed due to the patients renal</p><p>pathology; furthermore, it might have spontaneously regressed</p><p>without treatment.</p><p>Mara Elena Mateos, MD, PhD*</p><p>Pediatric Oncology Unit</p><p>Department of Pediatrics</p><p>University Hospital Reina Sofa</p><p>Cordoba, Spain</p><p>Eduardo Lopez-Laso, MD, PhD</p><p>Pediatric Neurology Unit</p><p>Department of Pediatrics</p><p>University Hospital Reina Sofa</p><p>Cordoba, Spain</p><p>Juan Luis Perez-Navero, MD, PhD</p><p>Pediatric Intensive Care Unit</p><p>Department of Pediatrics</p><p>University Hospital Reina Sofa</p><p>Cordoba, Spain</p><p>REFERENCES</p><p>1. Swerdlow AJ, Schoemaker MJ, Higgins CD, et al. Cancer incidence and</p><p>mortality inmenwithKlinefelter syndrome:A cohort study. JNatl Cancer Inst</p><p>2005;97:12041210.</p><p>2. Satge D, Sasco AJ, Plantaz D, et al. Abnormal number of X chromosomes and</p><p>neuroblastic tumors. J Pediatr Hematol Oncol 2001;23:331332.</p><p>3. Satge D, Moore SW, Stiller CA, et al. Abnormal constitutional karyotypes in</p><p>patients with neuroblastoma: A report of four new cases and review of 47</p><p>others in the literature. Cancer Genet Cytogenet 2003;147:8998.</p><p>4. Sasaki Y, Nakayama H, Ikeda M. Turner syndrome and ganglioneuroma.</p><p>J Pediatr Hematol Oncol 2000;22:8990.</p><p>5. Hero B, Simon T, Spitz R, et al. Localized infant neuroblastomas often show</p><p>spontaneous regression: Results of the prospective trials NB95-S and NB97.</p><p>J Clin Oncol 2008;26:15041510.</p><p> 2011 Wiley-Liss, Inc.DOI 10.1002/pbc.23089Published online 30 June 2011 in Wiley Online Library(wileyonlinelibrary.com).</p><p>Abbreviations: KS, Klinefelter syndrome; SIOP, International Society</p><p>of Pediatric Oncology; MRI, magnetic resonance imaging; MIBG,</p><p>123I metaiodobenzylguanidine; FISH, uorescence-based in situ</p><p>hybridization.</p><p>*Correspondence to: Mara Elena Mateos, MD, PhD, Pediatric</p><p>Oncology Unit, Department of Pediatrics, University Hospital Reina</p><p>Sofa, Cordoba, Av. Menendez Pidal, s/n, 14004 Cordoba, Spain.</p><p>E-mail: marielmateos@gmail.com</p><p>Received 17 November 2010; Accepted 25 January 2011</p></li></ul>