J Pediatr Hematol Oncol
Volume 37, Number 2, March 2015
wDepartment of Pediatric Hematology and Oncology, University Children’s Hospital Muenster, Muenster, Germany
REFERENCES 1. Jaing TH, Yang CP, Hung IJ, et al. Phyllodes tumor in survivors of childhood osteosarcoma: a single institution’s experience. J Pediatr Hematol Oncol. 2014;36:e36–e38. 2. Birch JM, Alston RD, McNally RJ, et al. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene. 2001;20:4621–4628. 3. Mazoyer S, Lalle P, Moyret-Lalle C, et al. Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations. Oncogene. 1994;9:1237–1239. 4. Kefeli M, Yildiz L, Akpolat I, et al. The coexistence of invasive ductal carcinoma and malignant phyllodes tumor with liposarcomatous and chondrosarcomatous differentiation in the same breast in a post-osteosarcoma case. Pathol Res Pract. 2008;204:919–923. 5. Armstrong GT, Liu W, Leisenring W, et al. Occurrence of multiple subsequent neoplasms in long-term survivors of childhood cancer: a report from the childhood cancer survivor study. J Clin Oncol. 2011;29:3056–3064.
Neuroblastoma and Spinal Muscular Atrophy To the Editor: A recent report describes a child with coincident neuroblastoma and
spinal muscular atrophy type 1 (SMA 1), formerly Werdnig-Hoffman disease.1 That paper’s review of the literature identified 3 adolescents with SMA types 2 or 3 who had alveolar rhabdosarcoma. Whether SMA is genetically or otherwise related to these cancers, or whether the association is fortuitous, remains unclear. We add a case of a child with neuroblastoma whose sister had SMA 1. Our patient D.A., presented at 3 years of age with diffuse bone pain. Evaluation identified a retroperitoneal paraspinal mass arising from T12 to L4, which biopsy confirmed to be neuroblastoma, unfavorable histology. Inadequate tumor cell growth precluded cytogenetic evaluation; no mycN amplification was noted on florescent in situ hybridization. The patient had INSS stage 4 disease with bone, marrow, lymph node involvement. A 3-yearold sister was said to have died with SMA 1. D.A. was said to be negative for that diagnosis and had had a history of normal neurodevelopment. Review of PubMed for SMA and childhood cancer showed no other cases with the 2 diseases in a single family. Nonetheless, our case provides another suggestion that neuroblastoma and SMA may be related. SMA 1 is an autosomal recessive disease characterized by degeneration of motor neurons of the spinal cord and caused by inactivating mutations of the survival of motor neuron 1 (SMN1) gene at 5q13.2, not a locus proximate to any mutations described in neuroblastoma tumors.2 SMN encodes a protein which is part of
Letters to the Editor
a signaling pathway that leads to differentiation of anterior horn cells. Anterior horn cells are the site of origin of a subset of neuroblastoma primary tumors, including that seen in D.A. SMN levels have been found to increase during in vitro differentiation of cell lines derived from children with neuroblastoma.3 Whether intermediate changes in SMN levels predispose to or are otherwise associated with neuroblastoma, particularly paraspinal tumors, deserves further attention. Such an abnormality, in addition to offering more clues to pathogenesis, might offer options for treatment. Julie Blatt, MD Stuart H. Gold, MD Division of Pediatric Hematology Oncology, University of North Carolina, Chapel Hill, NC
REFERENCES 1. Sag E, Sen HS, Haliloglu G, et al. Neuroblastoma in a patient with spinal muscular atrophy type I: is it just a coincidence? J Child Neurol. Aug 14, 2014. [Epub ahead of print] 2. Lefebvre S, Bu¨rglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80:155–165. 3. Zhang H, Xing L, Rossoll W, et al. Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons. J Neurosci. 2006;26:8622–8632.
The authors declare no conflict of interest.
Copyright
r
2014 Wolters Kluwer Health, Inc. All rights reserved.
www.jpho-online.com |
159
Volume 37, Number 2, March 2015
wDepartment of Pediatric Hematology and Oncology, University Children’s Hospital Muenster, Muenster, Germany
REFERENCES 1. Jaing TH, Yang CP, Hung IJ, et al. Phyllodes tumor in survivors of childhood osteosarcoma: a single institution’s experience. J Pediatr Hematol Oncol. 2014;36:e36–e38. 2. Birch JM, Alston RD, McNally RJ, et al. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene. 2001;20:4621–4628. 3. Mazoyer S, Lalle P, Moyret-Lalle C, et al. Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations. Oncogene. 1994;9:1237–1239. 4. Kefeli M, Yildiz L, Akpolat I, et al. The coexistence of invasive ductal carcinoma and malignant phyllodes tumor with liposarcomatous and chondrosarcomatous differentiation in the same breast in a post-osteosarcoma case. Pathol Res Pract. 2008;204:919–923. 5. Armstrong GT, Liu W, Leisenring W, et al. Occurrence of multiple subsequent neoplasms in long-term survivors of childhood cancer: a report from the childhood cancer survivor study. J Clin Oncol. 2011;29:3056–3064.
Neuroblastoma and Spinal Muscular Atrophy To the Editor: A recent report describes a child with coincident neuroblastoma and
spinal muscular atrophy type 1 (SMA 1), formerly Werdnig-Hoffman disease.1 That paper’s review of the literature identified 3 adolescents with SMA types 2 or 3 who had alveolar rhabdosarcoma. Whether SMA is genetically or otherwise related to these cancers, or whether the association is fortuitous, remains unclear. We add a case of a child with neuroblastoma whose sister had SMA 1. Our patient D.A., presented at 3 years of age with diffuse bone pain. Evaluation identified a retroperitoneal paraspinal mass arising from T12 to L4, which biopsy confirmed to be neuroblastoma, unfavorable histology. Inadequate tumor cell growth precluded cytogenetic evaluation; no mycN amplification was noted on florescent in situ hybridization. The patient had INSS stage 4 disease with bone, marrow, lymph node involvement. A 3-yearold sister was said to have died with SMA 1. D.A. was said to be negative for that diagnosis and had had a history of normal neurodevelopment. Review of PubMed for SMA and childhood cancer showed no other cases with the 2 diseases in a single family. Nonetheless, our case provides another suggestion that neuroblastoma and SMA may be related. SMA 1 is an autosomal recessive disease characterized by degeneration of motor neurons of the spinal cord and caused by inactivating mutations of the survival of motor neuron 1 (SMN1) gene at 5q13.2, not a locus proximate to any mutations described in neuroblastoma tumors.2 SMN encodes a protein which is part of
Letters to the Editor
a signaling pathway that leads to differentiation of anterior horn cells. Anterior horn cells are the site of origin of a subset of neuroblastoma primary tumors, including that seen in D.A. SMN levels have been found to increase during in vitro differentiation of cell lines derived from children with neuroblastoma.3 Whether intermediate changes in SMN levels predispose to or are otherwise associated with neuroblastoma, particularly paraspinal tumors, deserves further attention. Such an abnormality, in addition to offering more clues to pathogenesis, might offer options for treatment. Julie Blatt, MD Stuart H. Gold, MD Division of Pediatric Hematology Oncology, University of North Carolina, Chapel Hill, NC
REFERENCES 1. Sag E, Sen HS, Haliloglu G, et al. Neuroblastoma in a patient with spinal muscular atrophy type I: is it just a coincidence? J Child Neurol. Aug 14, 2014. [Epub ahead of print] 2. Lefebvre S, Bu¨rglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80:155–165. 3. Zhang H, Xing L, Rossoll W, et al. Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons. J Neurosci. 2006;26:8622–8632.
The authors declare no conflict of interest.
Copyright
r
2014 Wolters Kluwer Health, Inc. All rights reserved.
www.jpho-online.com |
159
