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Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The inheritance of multiple exostoses follows a classical autosomal dominant pattern, although some individuals have only a few lesions that may not be symptomatic. It may form part of the Langer-Giedion syndrome (microdeletion of chromosome 8q), with mental retardation and features of trichorhinophalangeal dysplasia. Specific genes on chromosomes 8 and 11 have now been isolated. By contrast, enchondromatosis (Ollier disease) is rarely transmitted to children. When accompanied by haemangiomas, it is termed Maffucci syndrome. There is a risk of sarcomatous malignant change in the enchondromata.
Epidemiology and genetic associations of neonatal tumors
Published in Prem Puri, Newborn Surgery, 2017
These may be autosomal dominant, recessive, or X-linked. In addition, certain disorders of sexual differentiation may also be associated with cancer in the pediatric age group. Autosomal dominant syndromes include familial colonic polyposis, neurofibromatosis, and the nevoid basal cell carcinoma syndrome (Gorlin syndrome), as well as the blue rubber bleb and Sotos syndromes. Skeletal abnormalities such as multiple exostoses, polyostotic fibrous dysplasia, and Maffucci syndrome are also associated with a higher incidence of tumor formation. These tumors do not normally present in the neonatal period and are added for completeness, but are extremely interesting from a genetic point of view (i.e., in tracing the affected individuals in family groups).
Tumours
Published in Ashley W. Blom, David Warwick, Michael R. Whitehouse, Apley and Solomon’s System of Orthopaedics and Trauma, 2017
Jonathan Stevenson, Michael Parry
Secondary central chondrosarcomas These arise in previously benign enchondromas, although the risk cannot be quantified as enchondromas are frequently asymptomatic incidental findings on X-rays. 011ier’s disease or multiple enchondromatosis patients present in childhood with enchondromas, most numerous in the phalangeal bones of the hands and feet. Clinical findings include asymmetric limb shortening, swelling of the fingers and toes, and disturbed movements of the interphalangeal joints. They may occur unilaterally, but frequently they are bilateral. After puberty no new enchondromas develop, and tumour growth in adulthood is considered to be malignant degeneration of these tumours. Pathological fractures in the affected bones may occur. Maffucci syndrome combines multiple enchondromas and cutaneous or visceral haemangiomas, and may present at birth or develop later. 011ier’s disease and Maffucci syndrome have a significant risk of developing secondary chondrosarcomas of approximately 20–30% and 40–50% respectively, typically in the third or fourth decade, although in Maffucci syndrome, patients are at increased risk of also developing carcinomas (e.g. breast, liver, ovary), which suggests an underlying genetic predisposition.
Primary Angiosarcoma of the Gastrointestinal Tract: A Systematic Review of the Literature
Published in Journal of Investigative Surgery, 2022
Dimitrios Schizas, Aikaterini Mastoraki, Ilias Giannakodimos, Alexios Giannakodimos, Afroditi Ziogou, Ioannis Katsaros, Maximos Frountzas, Ioannis Koutelidakis, Pantelis Vassiliu, Emmanouil Pikoulis
Several risk factors have been associated to angiosarcomas development with radiation therapy and chronic lymphedema (Stewart Treves Syndrome) being the most common [12]. Vascular malignancies must adhere to Cahan’s criteria in order to be characterized as post-radiated [44]. The estimated mean period between exposure to radiation and development of PGAS is 12.5 years, while the dose of administered radiation varies from 40 to 80 grays [45]. Occasionally, endothelial tumors may emerge in correlation with foreign bodies, prior chemotherapy and exogenous toxins, including vinyl chloride, thorotrast and arsenic [46]. Familiar syndromes, such as Neurofibromatosis type 1 and Maffucci syndrome, chronic inflammation, anal abscesses, fistulas and peritoneal dialysis constitute other suspected etiological parameters [47,48]. In the present systematic review, radiation and foreign bodies were potential risk factors at 28.2% of the included cases. The increased percentage (35.7%) of risk factors exposure in multifocal cases indicates an aggressive nature of the PGASs in their presence.
Further understanding of glioma mechanisms of pathogenesis: implications for therapeutic development
Published in Expert Review of Anticancer Therapy, 2020
Michael Ruff, Sani Kizilbash, Jan Buckner
Isocitrate dehydrogenase-1 (IDH-1) is a cytosolic NADP+-dependent enzyme involved in cellular metabolism, familiar to many from rote memorization of the (Kreb’s) citric-acid cycle. Somatic gain of function mutations in the IDH-1 (cytosolic) and IDH-2 (mitochondrial) genes initiate events in the majority of low-grade gliomas [30], whereas somatic IDH mutant mosaicism is seen in Ollier disease/Maffucci syndrome [31] and is associated with the formation of enchondromas, chondrosarcomas, glioma and spindle-cell hemangiomas. In its wild-type state, IDH normally functions to catalyze isocitric acid to alpha-ketoglutaric acid, while also producing NADPH, the reduced form of nicotinamide adenine dinucleotide phosphate. The canonical mutations are IDH-1 mutations, and the majority of these are R132 H mutations in which the highly conserved amino acid arginine (R7) in position 132 of the amino-acid sequence is substituted with histidine (H) in the binding site for isocitrate [30]. This substitution increases the function of the IDH mutation, which further catalyzes α-ketoglutarate to the pathogenic ‘onco-metabolite’ D-2-hydroxyglutarate (2-HG) while oxidizing NADPH to NADP+. The spectrum and significance of non-canonical IDH mutations comprise an ongoing field of study.
IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Published in Pediatric Hematology and Oncology, 2020
Anand Srinivasan, Yaolin Zhou, Teresa Scordino, Sandeep Prabhu, Andrea Wierenga, Garfield Simon, Klaas J. Wierenga, Joel Thompson, Rikin Shah, Arpan A. Sinha
In addition, mutations in IDH1 and IDH2 are implicated in skeletal enchondromatosis.2,3 Ollier disease (multiple enchondromas) and Maffucci syndrome (multiple enchondromas combined with hemangiomas) are non-hereditary disorders associated with somatic mosaic mutations in IDH genes. Malignant transformation of enchondromas to chondrosarcomas and other cancers such as brain tumors and AML have also been reported in patients with these conditions.4