Tumors in Rubinstein‐Taybi syndrome

Miller, Robert W.; Rubinstein, Jack H.

doi:10.1002/ajmg.1320560125

Cited by 260 publications

(177 citation statements)

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“…Per age category, the incidence is compared to the general Dutch population (IKNL, [Link]), but small numbers preclude formal epidemiological risk assessment (Figure 1). The overall frequency of malignancies in the presently reported Dutch RSTS population (8.3% in those with proven variants, 4.6% overall) is higher than previously reported by Siraganian and Miller (1.5% and 2.3%, respectively) (Miller & Rubinstein, 1995; Siraganian et al, 1989) in individuals with an age distribution similar to the present cohort. As the same definition for malignant tumors was used by the latter authors as by us, this may be caused by the opportunity in the Netherlands of using a comprehensive, population‐based, and nation‐wide search strategy.…”

Section: Discussioncontrasting

confidence: 55%

“…Meningiomas were present in 8.3% of molecularly proven Dutch RSTS individuals (4.6% of all Dutch RSTS individuals) and occur in <0.1% in the general Dutch population (Casparie et al, 2007; Wiemels, Wrensch, & Claus, 2010), supporting an increased risk to develop meningioma in RSTS individuals (Bourdeaut et al, 2014; Miller & Rubinstein, 1995; Skousen, Wardinsky, & Chenaille, 1996). This is further supported by presentation of two metachronous, independent meningiomas in a single individual in the present study, who has been reported before separately (Verstegen, van den Munckhof, Troost, & Bouma, 2005).…”

Section: Discussionmentioning

confidence: 99%

“…Nine were malignant, 13 were benign, and 79% occurred under the age of 20. Miller and Rubinstein (1995) expanded the above series and reported 36 tumors in 725 RSTS individuals (5%). Tumors of the central nervous system and of hematological origin were relatively frequently reported (12 and 6 of 36 neoplasms, respectively) and two individuals with pilomatricomas were noted.…”

Section: Introductionmentioning

confidence: 98%

“…Genotype–phenotype studies have not been performed in subsequent reports either. The data in these series were composed of cases reported in literature and cases reported to Dr Jack Rubinstein (Miller & Rubinstein, 1995; Siraganian et al, 1989). …”

Section: Introductionmentioning

confidence: 99%

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Benign and malignant tumors in Rubinstein–Taybi syndrome

Boot

Belzen

Overbeek

et al. 2018

American J of Med Genetics Pt A

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Rubinstein–Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5–10%). Previous reports have suggested an increased incidence of specific benign and possibly also malignant tumors. We identified all known individuals diagnosed with RSTS in the Netherlands until 2015 (n = 87) and studied the incidence and character of neoplastic tumors in relation to their CREBBP/EP300 alterations. The population–based Dutch RSTS data are compared to similar data of the Dutch general population and to an overview of case reports and series of all RSTS individuals with tumors reported in the literature to date. Using the Nationwide Network and Registry of Histopathology and Cytopathology in the Netherlands (PALGA Foundation), 35 benign and malignant tumors were observed in 26/87 individuals. Meningiomas and pilomatricomas were the most frequent benign tumors and their incidence was significantly elevated in comparison to the general Dutch population. Five malignant tumors were observed in four persons with RSTS (medulloblastoma; diffuse large‐cell B‐cell lymphoma; breast cancer; non‐small cell lung carcinoma; colon carcinoma). No clear genotype–phenotype correlation became evident. The Dutch population‐based data and reported case studies underscore the increased incidence of meningiomas and pilomatricomas in individuals with RSTS. There is no supporting evidence for an increased risk for malignant tumors in individuals with RSTS, however, due to the small numbers this risk may not be fully dismissed.

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Section: Discussioncontrasting

confidence: 55%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

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Benign and malignant tumors in Rubinstein–Taybi syndrome

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Belzen

Overbeek

et al. 2018

American J of Med Genetics Pt A

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“…It should be noted, however, that RTS translocations are thought to cause disease solely by disrupting one CBP allele, 23 as opposed to the translocations in leukemia which cause oncogenesis by the fusion of two genes. Although there is an increased neoplasia frequency in RTS patients, 24 the inactivation of one CBP allele does not lead to acute myelogenous leukemia.…”

Section: Introductionmentioning

confidence: 95%

Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16)

et al. 1997

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The CREB-binding protein (CBP) is a large nuclear protein that regulates many signal transduction pathways and is involved in chromatin-mediated transcription. The translocation t(8;16)(p11;p13.3) consistently disrupts two genes: the CBP gene on chromosome band 16p13.3 and the MOZ gene on chromosome band 8p11. Although a fusion of these two genes as a result of the translocation is expected, attempts at detecting the fusion transcript by reverse transcriptase polymerase chain reaction (RT-PCR) have proven difficult; to date, only one inframe CBP/MOZ fusion transcript has been reported. We therefore sought other reliable means of detecting CBP rearrangements. We applied fluorescence in situ hybridization (FISH) and Southern blot analyses to a series of AML patients with a t(8;16) and detected DNA rearrangements of both the CBP and the MOZ loci in all cases tested. All six cases examined for CBP rearrangements have breakpoints within a 13 kb breakpoint cluster region at the 5′ end of the CBP gene. Additionally, we used a MOZ cDNA probe to construct a surrounding cosmid contig and detect DNA rearrangements in three t(8;16) cases, all of which display rearrangements within a 6 kb genomic fragment of the MOZ gene. We have thus developed a series of cosmid probes that consistently detect the disruption of the CBP gene in t(8;16) patients. These clones could potentially be used to screen other cancer-associated or congenital translocations involving chromosome band 16p13.3 as well.

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Medulloblastoma in patient with Rubinstein-Taybi syndrome

Skousen¹,

Wardinsky²,

Chenaille

1996

Am. J. Med. Genet.

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The following is a brief description of a patient with Rubinstein-Taybi syndrome (RTS) and medulloblastoma. We report the case in recognition of the apparent excess number of brain tumors in patients with RTS [Miller and Rubinstein, 19951 and because of the delay in diagnosis that occurred in this patient.The patient is a 9-year-old boy diagnosed at age 2 years with RTS on the basis of downward slanted palpe-bra1 fissures, micrognathia, broad toes and thumbs, mental retardation, and a stiff, unsteady gait. He was diagnosed with a posterior fossa medulloblastoma in March of 1990. Before the diagnosis, multiple visits were made t o his healthcare providers t o evaluate recurrent complaints of neck pain, vomiting, and constipation. Those visits focused on evaluations of the neck and gastrointestinal tract. At the time of diagnosis, the tumor had metastasize? to the suprasellar region and the left subfrontal area. DISCUSSIONThe literature describing RTS indicates 76% of these patients have a "stiff, unsteady gait" [Jones, 19881. The patient's ataxia and gait abnormalities were initially thought to be a component manifestation of the RTS. This led to a delay in the evaluation for a possible intracranial mass, postponing the diagnosis of the posterior fossa tumor.In his review, Dr. Miller noted that 5% of the known cases of RTS have developed benign or malignant tumors, several of those being intracranial [Miller and Rubinstein, 19951. The interaction of symptoms from a congenital syndrome such as RTS with a second underlying illness such as an intracranial tumor make early diagnosis of the tumor difficult. The increased incidence of tumors in these children suggests that unusual, persistent complaints such as, "my child is not walking like usual," or subtle abnormal physical exam findings should motivate early, thorough evaluation to rule out benign or malignant tumors.

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Tumors in Rubinstein‐Taybi syndrome

Cited by 260 publications

References 11 publications

Benign and malignant tumors in Rubinstein–Taybi syndrome

Benign and malignant tumors in Rubinstein–Taybi syndrome

Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16)

Medulloblastoma in patient with Rubinstein-Taybi syndrome

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