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Cancer Science Mar 2014We report on a 24-year-old woman who was diagnosed as having Maffucci syndrome with anaplastic astrocytoma. We analyzed the IDH1 and IDH2 mutations of enchondroma,...
We report on a 24-year-old woman who was diagnosed as having Maffucci syndrome with anaplastic astrocytoma. We analyzed the IDH1 and IDH2 mutations of enchondroma, hemangioma and anaplastic astrocytoma tissues and the same somatic mosaic mutation in IDH2 gene was identified in all these tissues. In addition, we identified additional mutation of the TP53 gene in anaplastic astrocytoma tissue but not in other benign tumors. This is the first report of the detection of an identical IDH2 mutation in multiple tissues and TP53 mutation in anaplastic astrocytoma in a patient with Maffucci syndrome. This case is unique and supports the IDH2-dependent genetic pathway and second-hit model for gliomagenesis.
Topics: Astrocytoma; Base Sequence; Brain Neoplasms; DNA Mutational Analysis; Enchondromatosis; Fatal Outcome; Female; Hemangioma; Humans; Isocitrate Dehydrogenase; Mutation, Missense; Radiography; Tumor Suppressor Protein p53; Young Adult
PubMed: 24344754
DOI: 10.1111/cas.12337 -
APSP Journal of Case Reports 2013Maffucci's syndrome is a rare non hereditary disorder characterized by multiple enchondromas and haemangiomas. A 12 year old boy presented with a painful swelling at his...
Maffucci's syndrome is a rare non hereditary disorder characterized by multiple enchondromas and haemangiomas. A 12 year old boy presented with a painful swelling at his right hand and deformed left upper limb. On detailed workup, he was found to have multiple enchondromas involving long bones and a single haemangioma. A diagnosis of Maffucci's syndrome was established. The clinical features and workup of the disease in our patient is reported.
PubMed: 24040593
DOI: No ID Found -
The Oncologist 2011Enchondromatosis is characterized by the presence of multiple benign cartilage lesions in bone. While Ollier disease is typified by multiple enchondromas, in Maffucci...
BACKGROUND
Enchondromatosis is characterized by the presence of multiple benign cartilage lesions in bone. While Ollier disease is typified by multiple enchondromas, in Maffucci syndrome these are associated with hemangiomas. Studies evaluating the predictive value of clinical symptoms for development of secondary chondrosarcoma and prognosis are lacking. This multi-institute study evaluates the clinical characteristics of patients, to get better insight on behavior and prognosis of these diseases.
METHOD
A retrospective study was conducted using clinical data of 144 Ollier and 17 Maffucci patients from 13 European centers and one national databank supplied by members of the European Musculoskeletal Oncology Society.
RESULTS
Patients had multiple enchondromas in the hands and feet only (group I, 18%), in long bones including scapula and pelvis only (group II, 39%), and in both small and long/flat bones (group III, 43%), respectively. The overall incidence of chondrosarcoma thus far is 40%. In group I, only 4 patients (15%) developed chondrosarcoma, in contrast to 27 patients (43%) in group II and 26 patients (46%) in group III, respectively. The risk of developing chondrosarcoma is increased when enchondromas are located in the pelvis (odds ratio, 3.8; p = 0.00l).
CONCLUSIONS
Overall incidence of development of chondrosarcoma is 40%, but may, due to age-dependency, increase when considered as a lifelong risk. Patients with enchondromas located in long bones or axial skeleton, especially the pelvis, have a seriously increased risk of developing chondrosarcoma, and are identified as the population that needs regular screening on early detection of malignant transformation.
Topics: Adolescent; Adult; Aged; Bone Neoplasms; Cartilage Diseases; Child; Child, Preschool; Chondrosarcoma; Enchondromatosis; Europe; Female; Hemangioma; Humans; Male; Middle Aged; Prognosis; Retrospective Studies; Risk Factors; Skin Neoplasms
PubMed: 22147000
DOI: 10.1634/theoncologist.2011-0200 -
Acta Ortopedica Mexicana 2019Maffucci syndrome is characterized by the presence of multiple enchondromes and hemangiomas that can affect soft tissues and other organs. The risk of malignant...
Maffucci syndrome is characterized by the presence of multiple enchondromes and hemangiomas that can affect soft tissues and other organs. The risk of malignant transformation of lesions is 100% during the life of the individual, with chondrosarcoma being the most frequently associated malignant tumor. We present the case of a 44-year-old man diagnosed with Maffucci syndrome who developed a synchronous double primary: chondrosarcoma and high-grade multicenter fusocellular sarcoma of scapular and tricipital region, was treated with disarticulation interscapule-thoracic, presented accelerated progression and lung disease. There are other neoplasms associated with Maffucci syndrome, such as pancreatic adenocarcinoma, mesenchymal ovarian tumors, gliomas, astrocytomas and pituitary tumors. It is therefore very interesting to report the uncommon association between fusocellular sarcoma and secondary chondrosarcoma in patients with Maffucci syndrome. Follow-up in this group of patients is complex and is based on the intentional search for accelerated growing lesions, paying attention to progressive growth injuries, clinical symptoms or radiological malignancy data.
Topics: Adenocarcinoma; Adult; Bone Neoplasms; Chondrosarcoma; Enchondromatosis; Humans
PubMed: 32253856
DOI: No ID Found -
Nefrologia : Publicacion Oficial de La... 2003Since its discovery in 1923, the parathyroid hormone (PTH), was thought to be the sole hormone capable of stimulating bone resorption, renal tubular calcium... (Review)
Review
Since its discovery in 1923, the parathyroid hormone (PTH), was thought to be the sole hormone capable of stimulating bone resorption, renal tubular calcium reabsorption, calcitriol synthesis, and urinary excretion of phosphate. However, in 1987, the PTHrP (PTH-related peptide), was demonstrated to share most of the biological actions of PTH through the activation of the same receptor. This receptor was cloned in 1992 and named PTH/PTHrP receptor or PTH-R1. Both, PTH and PTHrP bind with great affinity to PTH-R1 and stimulate a signal transduction system involving different G-proteins, phospholipase C, and adenylate cyclase. A third member of the PTH family, the TIP-39 (tuberoinfundibular peptide), binds and activates another PTH receptor (PTH-R2). There is evidence for other PTH receptors, a PTH-R3, probably specific for PTHrP in keratinocytes, kidney, placenta and a PTH-R4 specific for C-terminal PTH fragments. Activating mutations in the PTH-R1 gene cause Jansen type metaphyseal chondrodysplasia, whereas inactivating mutations are responsible for Blomstrand type rare chondrodysplasia and enchondromatosis. The renal and bone PTH-R1 expression is upregulated in vitamin D deficient rats and by endotoxin, interleukin-2, dexamethasone, T3, and TGF beta. On the contrary, PTH, PTHrP, angiotensin-II, IGF-1, PGE2, vitamin D, and chronic renal failure decrease its expression. In conclusions, the biological implications of the identification and cloning of different PTH receptors are at their beginning. The almost ubiquitous distribution of PTHrP and PTH-R1, the numerous PTHrP and PTH fragments, let us suppose the existence of other PTH-related receptors, and a great complexity of the bone and mineral metabolism.
Topics: Animals; Bone and Bones; Chronic Kidney Disease-Mineral and Bone Disorder; Enchondromatosis; Endotoxins; Gene Expression Regulation; Growth Substances; Humans; Interleukin-3; Kidney Failure, Chronic; Kidney Tubules; Minerals; Neuropeptides; Osteochondrodysplasias; Parathyroid Hormone; Parathyroid Hormone-Related Protein; Peptide Hormones; Protein Conformation; Rats; Receptor, Parathyroid Hormone, Type 1; Receptors, Parathyroid Hormone; Signal Transduction; Vitamin D Deficiency
PubMed: 12778847
DOI: No ID Found -
Acta Reumatologica Portuguesa 2010Ollier Disease and Maffucci Syndrome are two rare diseases that can cause tumors in several organs, having a special predilection for the hand. However, there have been...
Ollier Disease and Maffucci Syndrome are two rare diseases that can cause tumors in several organs, having a special predilection for the hand. However, there have been very few reports in the literature focusing on hand manifestations of these diseases. We report the cases of three female patients: one with Ollier Disease, and two other with Maffucci Syndrome. All patients had hand involvement as their initial primary complaint. The Ollier Disease patient developed chondrosarcomas of two digits and had to have these fingers amputated. One of the Maffucci patients died one year after presentation from a brain glioblastoma. These cases emphasize the importance of early diagnosis of Ollier Disease and Maffucci Syndrome, as these two conditions are associated not only to crippling hand deformity, but also to a significant risk of chondrosarcoma, and other malignant tumors.
Topics: Adult; Enchondromatosis; Female; Hand; Humans; Middle Aged; Radiography
PubMed: 20975644
DOI: No ID Found -
British Medical Journal Sep 1950
Topics: Enchondromatosis; Humans; Osteochondrodysplasias
PubMed: 15434456
DOI: 10.1136/bmj.2.4678.555 -
Proceedings of the Royal Society of... Jul 1949
Topics: Enchondromatosis; Humans; Osteochondrodysplasias
PubMed: 18228986
DOI: No ID Found -
Proceedings of the Royal Society of... Jul 1947
Topics: Enchondromatosis; Humans; Mucopolysaccharidosis IV; Osteochondrodysplasias
PubMed: 19993598
DOI: No ID Found -
Journal of Orthopaedic Science :... Jul 2006
Review
Topics: Bone Neoplasms; Enchondromatosis; Fibrous Dysplasia of Bone; Giant Cell Tumor of Bone; Humans; Osteitis Deformans; Osteoblastoma; Osteochondroma; Osteomyelitis; Osteosarcoma; Precancerous Conditions; Syndrome
PubMed: 16897210
DOI: 10.1007/s00776-006-1037-6