Maffuccisyndrome complicated by three different central nervous system tumors sharing an IDH1 R132C mutation: case report. Maffuccisyndrome (MS) and Ollier disease (OD) are nonhereditary congenital diseases characterized by multiple enchondromas and/or chondrosarcomas. Recent studies have implicated somatic mosaic mutations of isocitrate dehydrogenase 1 or 2 (IDH1/2) as contributing
Sclerosing angiomatoid nodular transformation of the spleen in a patient with Maffuccisyndrome: a case report and review of literature Maffuccisyndrome is a congenital, non-hereditary mesodermal dysplasia characterized by multiple enchondromas and hemangiomas. The presence of visceral vascular lesions in this syndrome is exceedingly rare. We report a 26-year-old female who was diagnosed with Maffuccisyndrome along with sclerosing angiomatoid nodular transformation (SANT) of the spleen. The patient underwent a laparoscopic splenectomy. Immunostaining of the excised specimen revealed 3 distinct types of vessels in the angiomatoid nodules: CD34-/CD8-/CD31+ small veins, CD34-/CD8+/CD31+ sinusoids, and CD34+/CD8-/CD31+ capillaries, leading to the diagnosis of SANT of the spleen. This case
MaffucciSyndrome Associated With Adrenocorticotropic Hormone–Independent Bilateral Macronodular Adrenal Hyperplasia Maffuccisyndrome is a rare, nonhereditary, mesodermal dysplastic disease characterized by the presence of multiple hemangiomas and enchondromas. This pathological condition, which is often unrecognized, is associated with a high prevalence of benign and malignant endocrine tumors involving pituitary, adrenal, thyroid, and parathyroid glands. We describe the case of a young patient presenting a history suggestive of secondary arterial hypertension and typical features of Maffuccisyndrome (multiple hemangiomas and enchondromas), which were unrecognized over the previous 3 decades. Given that endocrine diseases are common causes of secondary arterial hypertension
Maffuccisyndrome and neoplasms: a case report and review of the literature Maffuccisyndrome is characterized by the sporadic occurrence of multiple enchondromas together with multiple hemangiomas. Patients with Maffuccisyndrome are at increased risk of developing different kinds of malignant tumors. We report on a 39-year-old woman who was diagnosed with Maffuccisyndrome together with intrahepatic cholangiocarcinoma (IHCC). Heterozygous somatic mutations in the isocitrate dehydrogenase 1 and 2 (IDH1/IDH2) genes are associated with a number of different tumor types (e.g. IHCC) and also with Maffuccisyndrome. For IHCC, mutations in IDH1/IDH2 are associated with higher survival rates. IHCC tissue as well as normal liver tissue and peripheral blood were analyzed for IDH1/IDH2-mutations
Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffuccisyndrome. Maffuccisyndrome is a rare disease characterized by multiple enchondromas and soft-tissue hemangiomas. Additionally, neuroendocrine tumors including pituitary adenomas have been described in these patients. The underlying genetic etiology lies in somatic mosaicism of mutations in isocitrate dehydrogenase 1 (IDH1 ) or isocitrate dehydrogenase 2 (IDH2). This report describes a patient with Maffuccisyndrome who presented with intracranial tumors of the skull base and suprasellar region. The patient underwent resection of both intracranial tumors, revealing histopathological diagnoses of chondrosarcoma and pituitary adenoma. DNA sequencing of the tumors was performed to identify common IDH1/2 mutations. Clinical
A Case of Myelopathy due to Enchondromas from Maffucci'sSyndrome with Successful Surgical Treatment. Maffuccisyndrome is a rare disorder comprising multiple enchondromas associated with multiple hemangiomas. Less than 200 cases have been reported in the literature. Most reported cases comprised lesions of the long bone metaphyses, hands, and feet. No previous case of myelopathy due to enchondroma from Maffuccisyndrome has been reported. To highlight an interesting and rare presentation of thoracic myelopathy because of enchondromas from Maffuccisyndrome. This is a case report of a single patient presenting with myelopathy in whom enchondromas from Maffuccisyndrome were removed from the spinal canal with the return of normal function. Clinical examination, magnetic resonance imaging
Common Somatic Alterations Identified in MaffucciSyndrome by Molecular Karyotyping Maffuccisyndrome (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
Maffuccisyndrome with unilateral limb: a case report and review of the literature Maffuccisyndrome is a congenital, non-hereditary mesodermal dysplasia manifested by multiple enchondromas and hemangiomas. It is associated with diverse secondary musculoskeletal deformities, which is exceedingly rare. We report a case of hemangiomas and enchondromas localized in the unilateral limb in a patient with Maffuccisyndrome. Treatment consists of orthopedic and surgical intervention to minimize deformities and for cosmetic purpose. Careful surveillance for malignant degeneration of both skeletal and non-skeletal tumors, especially in the brain and abdomen, is essential.
factorsJuvenile granulosa cell tumors have been reported in children with Ollier disease and Maffuccisyndrome.[12,13]Clinical presentationPatients with juvenile granulosa cell tumors present with the following symptoms:[14,15]Precocious puberty (most common; caused by estrogen secretion).Abdominal pain.Abdominal mass.Ascites.Treatment of childhood juvenile granulosa cell tumorsTreatment options for childhood ]Tanaka Y, Sasaki Y, Nishihira H, et al.: Ovarian juvenile granulosa cell tumor associated with Maffucci'ssyndrome. Am J Clin Pathol 97 (4): 523-7, 1992. [PUBMED Abstract]Sampagar AA, Jahagirdar RR, Bafna VS, et al.: Juvenile granulosa cell tumor associated with Ollier disease. Indian J Med Paediatr Oncol 37 (4): 293-295, 2016 Oct-Dec. [PUBMED Abstract]Kalfa N, Patte C, Orbach D, et al.: A nationwide
guidelines on cancer surveillance in these syndromes, aiming to improve early detection, intervention, and reduce morbidity associated with such neoplasms. In this paper, we review several of the rare conditions discussed in this workshop. Ollier disease and Maffuccisyndrome are enchondromatoses (disorders featuring benign bone lesions) with up to 50% risk of malignancy, including chondrosarcoma
Registry of Ollier Disease and MaffucciSyndrome REM is a retrospective and prospective registry, finalized to care and research. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc..This approach has been individuated in order and to overcome the difficulties of data storage and analysis, suggested in 2013 to implement the Registry of Ollier Disease and MaffucciSyndrome (ROM).The ROM relies on an IT Platform named Genotype-phenotype Data Integration platform -GeDI.This solution, realized by a collaboration among Medical Genetic Department and a local software-house (NSI - Nier IT Solution), is a General Data Protection Regulation
skeleton. It can occur together with soft-tissue hemangiomas in Maffucci'ssyndrome. Clinical problems caused by the enchondromas are mainly related to skeletal deformities causing malalignment and restricted motion of joint. In both disorders, there is a risk of malignant transformation as well as secondary degenerative joint changes.
and periosteal cartilaginous tumours and cytogenetically normal acute myeloid leukaemia. Post zygotic somatic mutations of characterise the majority of cases of Ollier disease and Maffuccisyndrome. mutations are uncommon in epithelial neoplasia but have been described in cholangiocarcinoma.
pictures show possible high fracture of right side better ... * James Watson selling Nobel prize We live in an era where a scientist has to think about being politically correct. Think about it. ----------------------------------- ... * MaffucciSyndrome -Spotter Series Maffuccisyndrome is characterized by benign enlargements of cartilage (enchondromas); bone deformities; and dark, irregularly shaped