Two Primary Osteosarcomas in a Patient With Rothmund-Thomson Syndrome

Anbari, Kevin K.; Ierardi-Curto, Lynne; Silber, Jeff S.; Asada, Naohiro; Spinner, Nancy B.; Zackai, Elaine H.; Belasco, Jean B.; Morrissette, Jennifer D.; Dormans, John P.

doi:10.1097/00003086-200009000-00032

Cited by 31 publications

(16 citation statements)

References 36 publications

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“…Eight were direct contacts. Four of the patients had been reported previously [Blaustein et al, 1993;Lindor et al, 2000, Anbari et al, 2000Pujol et al, 2000]. Four patients were ascertained postmortem.…”

Section: Resultsmentioning

confidence: 99%

“…However, in our cohort most subjects have normal peripheral blood karyotypes, and only one of our subjects had an abnormality of chromosome 8. Two of the patients with abnormal karyotypes [Lindor et al, 2000;Anbari et al, 2000] were treated for OS around the time that the karyotypes were done, so we cannot exclude effects of chemotherapy on the abnormal karyotypes. The third patient with an abnormal karyotype did not have OS.…”

Section: Discussionmentioning

confidence: 99%

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Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

et al. 2001

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Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy, small stature, skeletal abnormalities, juvenile cataracts, and predisposition to specific cancers. We have identified a contemporary cohort of 41 patients to better define the clinical profile, diagnostic criteria, and management of patients with RTS. Patients with the diagnosis of RTS were ascertained by referrals from dermatology, ophthalmology, genetics, and oncology or from direct contact with the patient's family. Medical information was obtained from interviews with physicians, patients, and their parents and a review of medical records. The age range at ascertainment was 9 months to 42 years (28 males and 13 females; M:F, 2:1). All subjects displayed a characteristic rash. Thirteen subjects had osteosarcoma (OS) (32%), eight had radial defects (20%), seven had gastrointestinal findings (17%), two had cataracts (6%), and one had skin cancer (2%). Twenty-two of 28 patients without OS were less than 15 years old and thus remain at significant risk for this tumor. This case-series study reveals a clinical profile of RTS that includes a higher prevalence of OS and fewer cataracts, compared with historical reports. These differences may reflect either allelic or genetic heterogeneity. This study documents the frequency of clinical anomalies in a contemporary cohort of RTS patients and revises guidelines for diagnosis and management of RTS.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

et al. 2001

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“…9,23,48,77 Although no clear genetic error is associated with the entity, the disease is known to have a relationship with retinoblastoma in the Li-Fraumeni syndrome, 9,23,24,47,60,72 and with the dermatologic disorder, Rothmund-Thompson syndrome. 1,9,17,21,23,61 Some of the more aggressive lesions show a greater degree of aneuploidy on flow cytometry 23,54,70 or germ cell alterations in p53, c-fos, 23,33,43,45,59,70,81 or other gene and enzyme factors including MDM2 45,81 and HER2/erb-2, 35,51,82 cyclooxygenase-2, 22 PCNA, 43 p-glycoprotein, 1,39,58,68 and bone morphogenetic proteins. 73 Some of the rarer special forms of osteosarcoma include telangiectatic, fibrohistiocytic, chondroblastic, and metachronous osteosarcomas, 7,9,23,38,48,55,61 but only the last two seem to have a better prognosis than the rest.…”

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confidence: 99%

Survival Data for 648 Patients with Osteosarcoma Treated at One Institution

Mankin¹,

Hornicek²,

Rosenberg³

et al. 2004

Clinical Orthopaedics and Related Research

161

108

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During the past 30 years, the orthopaedic oncology group at the Massachusetts General Hospital has treated 648 patients with osteosarcoma centrally located in the bone. Using records maintained in a specifically designed computer system, a study was done to assess the factors that seemed to influence the survival outcome. The overall survival for the entire series was 68% at an average followup of 6 ± 4 years. Death occurred at a mean of 3 ± 3 years. Patient gender had no effect, but age of the patient was correlated with survival data, with the poorest survival for the older patients. Surgical treatment had no effect on outcome, but the Musculoskeletal Tumor Society stage of the lesion, the presence of metastases or local recurrence, and the chemotherapeutic treatment (very dependent on the drugs available and adjuvant versus neoadjuvant administration at various decades) all had a profound effect. In addition, anatomic location, size of the tumor, and percentage of tumor cells killed after neoadjuvant chemotherapy all had an effect on outcome.

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“…The family of RecQ helicases are enzymes that unwind double-stranded DNA into single-stranded DNA. The presence of a mutation in RecQ helicase has been described in other instability disorders associated with malignancy such as RothmundThomson syndrome [13].…”

Section: Discussionmentioning

confidence: 97%