Do Intracranial Neoplasms Differ in Ollier Disease and Maffucci Syndrome? An in-Depth Analysis of the Literature

Ranger, Adrianna; Szymczak, Artur

doi:10.1227/01.neu.0000356984.92242.d5

Cited by 41 publications

(39 citation statements)

References 74 publications

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“…Chromosomal imbalances in this region are detected in highly malignant human colon cancer cell lines [Ranger and Szymczak, 2009]. The third locus, 14q11.2, is associated with lymphoma, meningioma and adenocarcinoma.…”

Section: Discussionmentioning

confidence: 99%

Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping

et al. 2014

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Maffucci syndrome (MS) is a rare congenital disorder characterized by multiple central cartilaginous tumors (enchondromas) in association with cutaneous spindle cell hemangiomas. These patients have a high incidence of malignant transformation. No familial case is known and the etiopathogenic cause remains unknown. In enchondromatosis (Ollier disease, OD), which is comprised of enchondromas only, 4 mutations in the PTHR1 gene have been identified in 4 patients; 3 were somatic and 1 was germline. No PTHR1 mutations have been detected in MS, whereas somatic IDH1 and, more rarely, IDH2 mutations have been observed in 77% of patients with MS and 81% of patients with OD. These genetic alterations are shared with other tumors, including glioma, leukemia and carcinoma. To search for underlying somatic genomic causes, we screened MS tissues using Affymetrix SNP-chips. We looked for CNVs, LOH and uniparental isodisomy (UPID) by performing pairwise analyses between allelic intensities in tumoral DNA versus the corresponding blood-extracted DNA. While common chromosomal anomalies were absent in constitutional DNA, several shared CNVs were identified in MS-associated tumors. The most frequently encountered somatic alterations were localized in 2p22.3, 2q24.3 and 14q11.2, implicating these chromosomal rearrangements in the formation of enchondromas and spindle cell hemangiomas in MS. In one chondrosarcoma specimen, large amplifications and/or deletions were observed in chromosomes 3, 6, 9, 10, 12, 13, and 19. Some of these genetic changes have been reported in other chondrosarcomas suggesting an etiopathogenic role. No LOH/UPID was observed in any Maffucci tissue. Our findings identify frequent somatic chromosomal rearrangements on 2p22.3, 2q24.3 and 14q11.2, which may unmask mutations leading to the lesions pathognomonic of MS.

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Section: Discussionmentioning

confidence: 99%

Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping

et al. 2014

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“…Initial genetic studies demonstrated a normal karyotype and subsequent theories concerning mutations of the parathyroid hormone receptor PTH1R have been suggested and disproved [6][7][8]. One case of Maffucci's syndrome has been reported with an inversion of chromosome bands p11 and p21 of chromosome 1, however no other cases have been identified [2].…”

Section: Discussionmentioning

confidence: 99%

Maffucci's syndrome and fibroadenoma of the breast: a case report

Cubitt¹,

Tungotyo²,

Galiwango³

et al. 2011

Eur J Plast Surg

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“…Bei beiden Erkrankungen sind außer-dem Angiosarkome, Hirntumoren und hepatobiliäre Neoplasien beschrieben worden, die häufig für die Lebenserwartung der Patienten bedeutsamer sind (Literatur bei [28]). Die Erkrankung ist auf Mutationen im EXT1-und EXT2-Gen zurückzuführen, die auf Chromosom 8q24.1 und Chromosom 11p11-p12 lokalisiert sind.…”

Section: Enchondromatoseunclassified

Familiäre Tumorerkrankungen im Knochen

Jundt

Baumhoer

2010

Pathologe

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Do Intracranial Neoplasms Differ in Ollier Disease and Maffucci Syndrome? An in-Depth Analysis of the Literature

Abstract: OD and Maffucci syndrome differ with respect to the distribution of intracranial malignancies by histology, and geographical and age distribution of cases, with OD patients younger by approximately a decade, and Maffucci syndrome patients more likely to live in Asia or South America.

Cited by 41 publications

References 74 publications

Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping

Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping

Maffucci's syndrome and fibroadenoma of the breast: a case report

Familiäre Tumorerkrankungen im Knochen

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