Osteosarcomatosis with Rothmund-Thomson syndrome.

El-Khoury, J; Haddad, Samuel; Atallah, N

doi:10.1259/bjr.70.830.9135453

Cited by 33 publications

(14 citation statements)

References 9 publications

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“…Four patients had multicentric OS, which has been described in other RTS patients [Sim et al, 1992;el-Khoury et al, 1997;Spurney et al, 1998]. Concordance of OS was observed in two sibling pairs.…”

Section: Malignanciessupporting

confidence: 65%

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: Malignanciessupporting

confidence: 65%

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

et al. 2001

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“…Until now, only non-melanoma skin cancers are reported [1, 19, 20, 21] which appear at a relatively young age. Also non-cutaneous malignancies are found, mostly osteosarcomas [22, 23, 24, 25, 26, 27, 28]. Other tumours that are described are fibrosarcoma [19], parathyroid adenoma [29], Hodgkin’s ‘sarcoma’ [20] and gastric carcinoma [30].…”

Section: Discussionmentioning

confidence: 99%

A Female Patient with the Rothmund-Thomson Syndrome Associated with Anhidrosis and Severe Infections of the Respiratory Tract

et al. 1998

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The Rothmund-Thomson syndrome is a rare syndrome which is believed to be inherited in an autosomal pattern. Poikiloderma of the face and extremities is a characteristic feature. Besides this, less common aspects have been reported like alopecia, cataracts, short stature, musculoskeletal/bone defects or small hands, hypogonadism, abnormal teeth, dysplastic nails, anhidrosis and a high incidence of cutaneous and non-cutaneous malignancies. We present a patient with the Rothmund-Thomson syndrome together with anhidrosis and multiple infections of the upper and lower respiratory tract. Investigation of immunological function revealed a low total number of T lymphocytes with a slightly depressed reactivity. Immunoglobulins were markedly increased.

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“…RECQ4 has been shown to be part of a stable complex in the cytoplasm with the ubiquitin ligases, UBR1 and UBR2 (Yin et al, 2004). The pathological association between a subset of RTS patients and osteosarcoma has long been observed (Drouin et al, 1993;el-Khoury et al, 1997). The molecular basis of this is probably due to the mutations in the RECQ4 gene.…”

Section: Introductionmentioning

confidence: 99%

Tumor suppressor p53 represses transcription of RECQ4 helicase

et al. 2005

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RECQ4 is a member of the RecQ helicase family, which has been implicated in the regulation of DNA replication, recombination and repair. p53 modulates the functions of RecQ helicases including BLM and WRN. In this study, we demonstrate that p53 can regulate the transcription of RECQ4. Using nontransformed, immortalized normal human fibroblasts, we show that p53-dependent downregulation of RECQ4 expression occurred in G1-arrested cells, both in the absence or presence of exogenous DNA damage. Wild-type p53 (but not the tumor-derived mutant forms) repressed RECQ4 promoter activity. The camptothecin or etoposide-dependent p53-mediated repression was attenuated by trichostatin A (TSA), an inhibitor of histone deacetylases (HDACs). Repression of the RECQ4 promoter was accompanied with an increased accumulation of HDAC1, and the loss of SP1 and p53 binding to the promoter. The simultaneous formation of a camptothecin-dependent p53-SP1 complex indicated its occurrence outside of the RECQ4 promoter. These data suggest that p53-mediated repression of RECQ4 transcription during DNA damage results from the modulation of the promoter occupancy of transcription activators and repressors.

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Osteosarcomatosis with Rothmund-Thomson syndrome.

Cited by 33 publications

References 9 publications

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

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

A Female Patient with the Rothmund-Thomson Syndrome Associated with Anhidrosis and Severe Infections of the Respiratory Tract

Tumor suppressor p53 represses transcription of RECQ4 helicase

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