Metatarsal osteosarcoma in Rothmund-Thomson syndrome: A case report

Journal of Bone and Joint Surgery

Volumn 92, Issue 3, 2010, Pages 726-730

  Padhy, Debabrata ^a   Madhuri, Vrisha ^a   Pulimood, Susanne A ^a   Danda, Sumita ^a   Walter, Noel M ^a   Wang, Lisa L ^b  

^a CHRISTIAN MEDICAL COLLEGE   (India)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CISPLATIN; DOXORUBICIN; GRANULOCYTE COLONY STIMULATING FACTOR; PROTEIN RECQL 4; RECQ HELICASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BONE MARROW BIOPSY; BONE SCINTISCANNING; CANCER CHEMOTHERAPY; CASE REPORT; CHROMOSOME ANALYSIS; DRUG DOSE REDUCTION; DRUG WITHDRAWAL; FEBRILE NEUTROPENIA; FOOT AMPUTATION; FOOT RADIOGRAPHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KERATODERMA; MALE; METATARSAL BONE; MULTIPLE CYCLE TREATMENT; NEEDLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOSARCOMA; PANCYTOPENIA; PRIORITY JOURNAL; ROTHMUND THOMSON SYNDROME; SPLENECTOMY; TELANGIECTASIA; TREATMENT OUTCOME; AMPUTATION; BONE TUMOR; DIFFERENTIAL DIAGNOSIS; PATHOLOGY;

ADOLESCENT; AMPUTATION; BONE NEOPLASMS; DIAGNOSIS, DIFFERENTIAL; HUMANS; MALE; METATARSAL BONES; OSTEOSARCOMA; ROTHMUND-THOMSON SYNDROME;

EID: 77950907893     PISSN: 00219355     EISSN: 15351386     Source Type: Journal    
DOI: 10.2106/JBJS.I.00478     Document Type: Article

References (14)

1. Fuchs B, Pritchard DJ. Etiology of osteosarcoma. Clin Orthop Relat Res. 2002;397:40-52.
2. Anbari KK, Ierardi-Curto LA, Silber JS, Asada N, Spinner N, Zackai EH, Belasco J, Morrissette DJ, Dormans JP. Two primary osteosarcomas in a patient with Rothmund-Thomson syndrome. Clin Orthop Relat Res. 2000;378:213-23.
3. Dick DC, Morley WN, Watson JT. Rothmund-Thomson syndrome and osteogenic sarcoma. Clin Exp Dermatol. 1982;7:119-23.
4. Kozlowski K, Scougall JS, Oates RK. Osteosarcoma in a boy with Rothmund-Thomson syndrome. Pediatr Radiol. 1980;10:42-5.
5. Pujol LA, Erickson RP, Heidenreich RA, Cunniff C. Variable presentation of Rothmund-Thomson syndrome. Am J Med Genet. 2000;95:204-7.
6. Varughese M, Leavey P, Smith P, Sneath R, Breatnach F, O'Meara A. Osteogenic sarcoma and Rothmund Thomson syndrome. J Cancer Res Clin Oncol. 1992;118:389-90.
7. James WD, Berger TG, Elston DM. Andrews' diseases of the skin: clinical dermatology. Philadelphia: Saunders; 2006.
8. Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zackai EH, Plon SE. Association between osteosarcoma and deleterious mutations in RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst. 2003;95:669-74.
9. Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M. The mutation spectrum in RECQL4 diseases. Eur J Hum Genet. 2009;17:151-8.
10. Mehollin-Ray AR, Kozinetz CA, Schlesinger AE, Guillerman RP, Wang LL. Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. AJR Am J Roentgenol. 2008;191:W62-6.
11. Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, Plon SE. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet. 2001;102:11-7.
12. Hicks MJ, Roth JR, Kozinetz CA, Wang LL. Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome. J Clin Oncol. 2007;25:370-5.
13. Edmonson AS, Crenshaw AH, editors. Campbell's Operative Orthopedics. Vol 2. 6th ed. St. Louis: C.V. Mosby; 1980. p 1454-5.
14. Standring S, editor. Gray's anatomy: the anatomical basis of clinical practice. 39th ed. New York: Elsevier Churchill Livingstone; 2005. p 1498-526.