Pediatr Blood Cancer 2017 May 24. Epub 2017 May 24.

Department of Pediatrics, St. Luke's International Hospital, Tokyo, Japan.

Maffucci syndrome is a nonhereditary disorder caused by somatic mosaic isocitrate dehydrogenase 1 or 2 (IDH1 or IDH2) mutations and is characterized by multiple enchondromas along with hemangiomas. Malignant transformation of enchondromas to chondrosarcomas and secondary neoplasms, such as brain tumors or acute myeloid leukemia, are serious complications. A 15-year-old female with Maffucci syndrome developed B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Read More

Pathologe 2017 May;38(3):179-185

Institut für Pathologie, Knochentumor-Referenzzentrum, Universitätsspital Basel, Schönbeinstrasse 40, 4031, Basel, Schweiz.

Hereditary bone tumors are rare and result from mutations affecting cell cycle regulation (e.g. retinoblastoma syndrome/RB1 and Li-Fraumeni syndrome/TP53, Gardner syndrome/APC), energy metabolism (enchondromatosis/IDH1/2), complex signaling cascades (multiple hereditary exostoses/EXT1/2) and DNA integrity (Rothmund-Thomson/RECQL4, Werner/WRN and Bloom syndromes/BLM). Read More

Taiwan J Obstet Gynecol 2017 Apr;56(2):253-257

Gynecologic Oncology Center, Department of Obstetrics and Gynecology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic. Electronic address:

Objective: Ovarian juvenile granulosa cell tumor has an interesting association with multiple enchondromatosis (Ollier disease and Maffucci syndrome) and should be considered a leading diagnosis when an ovarian mass is found in young patients with these conditions. Besides the association with nonskeletal malignancies, there is a high risk of malignant transformation of enchondroma in chondrosarcoma as was also the case in this instance.

Case Report: The report uses multiple images to document the representative and characteristic markers of multiple enchondromas in a 22-year-old patient with Ollier disease complicated by malignant transformation of chondrosarcoma and in whom the disease is associated with ovarian juvenile granulosa cell tumor of the right ovary. Read More

BMC Musculoskelet Disord 2017 Apr 13;18(1):155. Epub 2017 Apr 13.

Spine Surgery, The First Affiliated Hospital of Guangzhou Medical University, 151 Yanjiang West Road, Guangzhou, 510000, China.

Background: Enchondroma, a subtype of chondroma, originates from the medullary cavity of the bone and produces an expansile growth pattern. Enchondroma located in the spine is rare and a few cases of large thoracic enchondroma have been reported. The authors document a rare case of large enchondroma in the thoracic spine of a 49-year-old woman, and discuss its clinical, radiological and histopathological characteristics. Read More

Vet Radiol Ultrasound 2017 Feb 24. Epub 2017 Feb 24.

Hospital Clínic Veterinari, Universitat Autònoma de Barcelona, 08193, Barcelona, Spain.

A 7-year-old crossbreed dog presented for lameness with diffuse soft tissue swelling in the right fore limb. Radiographs identified increased opacity of medullary cavity involving the radius and ulna. Whole-body computed tomography (CT) revealed mineral attenuation in the medullary cavity of multiple bones. Read More

Indian J Med Paediatr Oncol 2016 Oct-Dec;37(4):293-295

Department of Pediatrics, Division of Pediatric Oncology, Bharati Vidyapeeth Medical College and Hospital, Pune, Maharashtra, India.

Juvenile granulosa cell tumor (JGCT) is a rare neoplasm of childhood. Interestingly, it is known to be associated with Ollier disease, which is a rare bone disease characterized by multiple enchondromatosis. There is paucity of literature about the co-occurence of these two conditions. Read More

Joint Bone Spine 2016 Nov 25. Epub 2016 Nov 25.

Department of internal medicine, Hospital University Tidjani Damerdji, 13000 Tlemcen, Algeria; Faculty of Medical Sciences, 13000 Tlemcen, Algeria.

Clin Genet 2017 Feb;91(2):285-291

Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Clayton, Australia.

Ovarian sex cord-stromal tumors (SCST) represent approximately 8% of malignant ovarian tumors. The most common are granulosa cell tumors (GCT) which account for approximately 90% of malignant SCST. Recent studies have unraveled the key genomic and genetic events contributing to their pathogenesis. Read More

Gastrointest Endosc 2017 Jun 6;85(6):1293-1294. Epub 2016 Oct 6.

Division of Gastroenterology & Hepatology, Department of Internal Medicine, William Beaumont Hospital, Royal Oak, Michigan, USA.

West Indian Med J 2015 Oct 20. Epub 2015 Oct 20.

Department of Radiology, County Hospital Timisoara, Romania, E-mail:

Maffucci syndrome (MS) is a very rare, non-hereditary dysplasia, manifested by multiple enchondromas and haemangiomas. Malignant transformation of these lesions is seen in up to 33% of the cases. There is also a very rare association with secondary musculoskeletal deformaties. Read More

J Pediatr Genet 2015 Sep 25;4(3):136-43. Epub 2015 Sep 25.

Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.

Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review syndromes such as Sotos, Malan, Marshall-Smith, Weaver, Simpson-Golabi-Behmel, Perlman, Bannayan-Riley-Ruvalcaba, PI3K-related, Proteus, Beckwith-Wiedemann, fibrous dysplasia, Klippel-Trenaunay-Weber, and Maffucci. Read More

Semin Cutan Med Surg 2016 Sep;35(3):128-36

Johns Hopkins School of Medicine, Department of Dermatology, Baltimore, Maryland, USA.

The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome. Read More

J Pediatr Orthop 2016 Sep 3. Epub 2016 Sep 3.

*Department of Plastic Surgery ‡Health Sciences Research, Mayo Clinic, Rochester, MN †Orthopedic Division, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel §Department of Orthopedic Surgery, Assiut University Hospital, Assiut, Egypt.

Background: Multiple enchodromatosis of bone, termed Ollier's disease, or Maffucci syndrome when associated with hemangiomas, is a rare disease that can affect the pediatric hand. This condition often causes a finger mass, deformity, pain and possible pathologic fractures, and has been associated with malignant transformation to chondrosarcoma. The aim of our study is to describe the long-term sequela of multiple enchondromatosis of the hand in the pediatric population, specifically the rates of malignant transformation, tumor recurrence, rates of pathologic fracture, and phalangeal growth arrest. Read More

Zhongguo Gu Shang 2016 Jun;29(6):573-5

J Am Acad Orthop Surg 2016 Sep;24(9):625-33

From the Department of Orthopaedic Surgery, UPMC Hamot, Erie, PA.

Enchondroma is the most common primary bone tumor of the hand. This benign, cartilaginous tumor often presents as a pathologic fracture. When hand enchondroma is suspected, less common conditions, such as multiple enchondromatosis syndromes and benign and malignant lesions, should be ruled out. Read More

Case Rep Oncol 2016 Jan-Apr;9(1):126-33. Epub 2016 Feb 19.

Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.

Fibrous dysplasia (FD) is a monostotic or polyostotic benign bone lesion with spindle-cell proliferation in woven bone and stroma. Rarely, cartilaginous differentiation can be seen in the lesions of FD. FD with massive cartilaginous differentiation is called fibrocartilaginous dysplasia (FCD) and is considered a rare variant of FD. Read More

An Pediatr (Barc) 2016 Jun 7. Epub 2016 Jun 7.

Servicio de Traumatología, Hospital Infantil Universitario Niño Jesús, Madrid, España.

Surg Pathol Clin 2016 Jun 11;9(2):301-6. Epub 2016 Apr 11.

Hereditary Cancer Program, Department of Molecular Oncology, BC Cancer Agency, 600 Wet 10th Ave, Vancouver, British Columbia V5Z 4E6, Canada; Department of Medical Genetics, University of British Columbia, 2329 West Mall, Vancouver, British Columbia V6T 1Z4, Canada.

Genetic testing for a hereditary predisposition to gynecologic cancers has been available clinically since the 1990s. Since then, knowledge of the hereditary contribution to gynecologic cancers has dramatically increased, especially with respect to ovarian cancer. Although knowledge of the number of gynecologic cancer-predisposing genes has increased, the integration of genetic predisposition testing into routine clinical practice has been much slower. Read More

Surg Pathol Clin 2016 Jun 11;9(2):269-87. Epub 2016 Apr 11.

Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA. Electronic address:

This review covers gynecologic manifestations that may occur in rare hereditary syndromes. Recent advances in disorders, such as hereditary leiomyomatosis, renal cell carcinoma syndrome and tuberous sclerosis complex, are discussed as well as lesions that occur in von Hippel-Lindau syndrome, nevoid basal cell carcinoma syndrome, Cowden syndrome, Ollier disease/Maffucci syndrome, and Carney complex. Characteristic clinicopathologic features of each of these syndromes are discussed with an emphasis on the key features that enable pathologists to identify patients at highest risk for these diseases. Read More

J Clin Immunol 2016 Jul 17;36(5):490-501. Epub 2016 May 17.

Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Purpose: The United States Immunodeficiency Network (USIDNET) patient registry was used to characterize the presentation, genetics, phenotypes, and treatment of patients with Hyper IgM Syndrome (HIGM).

Methods: The USIDNET Registry was queried for HIGM patient data collected from October 1992 to July 2015. Data fields included demographics, criteria for diagnosis, pedigree analysis, mutations, clinical features, treatment and transplant records, laboratory findings, and mortality. Read More

Am J Med Genet A 2017 Jan 29;173(1):16-41. Epub 2016 Apr 29.

Department of Anatomy, Embryology and Physiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

The Peter the Great Museum of Anthropology and Ethnography (Kunstkamera) in Saint Petersburg is the oldest museum in Russia. It keeps the remains of the anatomical collection of the world-famous 17th century Dutch anatomist Frederik Ruysch. This unique collection was bought and shipped in 1717 by Czar Peter the Great, and presently still comprises more than 900 specimens, a modest number of which concerns specimens with congenital anomalies. Read More

Lancet 2016 Aug 29;388(10047):905. Epub 2016 Mar 29.

Department of Experimental and Clinical Medicine, Institute of Dermatology, University of Udine, Udine, Italy.

Acta Neuropathol Commun 2016 Mar 31;4:31. Epub 2016 Mar 31.

Hospices Civils de Lyon, Hôpital Neurologique, Service de Neuro-oncologie, 59 Bvd Pinel, 69394, Lyon, Cedex, France.

IDH mutations are found in the majority of adult, diffuse, low-grade and anaplastic gliomas and are also frequently found in cartilaginous tumors. Ollier disease and Maffucci syndrome are two enchondromatosis syndromes characterized by the development of multiple benign cartilaginous tumors due to post-zygotic acquisition of IDH mutations. In addition to skeletal tumors, enchondromatosis patients sometimes develop gliomas. Read More

Acta Orthop Belg 2016 Mar;82(1):102-5

We describe a 5 years old girl who presented to the multidisciplinary skeletal dysplasia clinic following excision of two bony lumps from her fingers. Based on clinical examination, radiolographs and histological results an initial diagnosis of hereditary multiple exostosis (HME) was made. Four years later she developed further lumps which had the radiological appearance of enchondromas. Read More

BMC Res Notes 2016 Feb 27;9:126. Epub 2016 Feb 27.

Department of Surgery, Klinikum rechts der Isar, Technical University, Ismaningerstrasse 22, 81675, Munich, Germany.

Background: Maffucci syndrome is characterized by the sporadic occurrence of multiple enchondromas together with multiple hemangiomas. Patients with Maffucci syndrome are at increased risk of developing different kinds of malignant tumors.

Case Presentation: We report on a 39-year-old woman who was diagnosed with Maffucci syndrome together with intrahepatic cholangiocarcinoma (IHCC). Read More

J Clin Diagn Res 2016 Jan 1;10(1):TD01-2. Epub 2016 Jan 1.

Assistant Professor, Department of Radiology, St. Johns National Academy of Medical Sciences , Sarjapur, Bangalore, India .

Olliers disease is a rare disease characterized by widespread enchondromas with a unilateral predominance, in early childhood. The diagnosis is based on clinical and conventional radiological evaluations. The prognosis for olliers disease is difficult to assess. Read More

J Surg Orthop Adv 2015 ;24(3):174-9

External fixation has long been used for limb lengthening but can result in many complications, such as tethering of the soft tissues, pain, decreased joint motion, scarring, and nerve injury. Recently, a controllable, telescopic, internal lengthening nail was developed to address many of these issues and hopefully improve the overall experience for the patient. The satisfaction rates of internal and external fixation for limb lengthening were compared in 16 patients, all of whom have experienced both methods. Read More

Bull Hosp Jt Dis (2013) 2015 Dec;73(4):282-5

Maffucci syndrome, a rare sporadic form of enchondromatosis, is characterized by hemangiomas and multiple enchondromas, benign cartilaginous tumors that arise near growth plates. Previous studies demonstrate that individuals diagnosed with Maffucci syndrome have approximately 100% lifetime risk of malignant transformation. Identification of Maffucci syndrome by surgical excision and pathological diagnosis can be life-saving due to its high malignant potential relative to other subtypes of enchondromatosis such as Ollier's disease. Read More

J Rheumatol 2015 Dec;42(12):2434-5

Taipei Veterans General Hospital, and National Yang-Ming University, Taipei, Taiwan.

Int J Clin Exp Med 2015 15;8(8):13417-20. Epub 2015 Aug 15.

Department of Orthopedics, The First Affiliated Hospital, College of Medicine, Zhejiang University #79 Qingchun Road, Hangzhou 310003, Zhejiang Province, P. R. China.

Ollier's disease remains comparatively rare, and is a non-hereditary cartilage dysplasia of bone. It is usually associated with problems such as deformity and fracture. Three different methods were used in a one-hand of 15-year-old boy reporting his pain in the left hand and swellings. Read More

Int J Hematol 2015 Dec 27;102(6):723-8. Epub 2015 Oct 27.

Research Center for Medical Science, Core Research Facilities for Basic Science, The Jikei University School of Medicine, Tokyo, Japan.

Maffucci syndrome is a nonhereditary congenital disorder characterized by multiple enchondromas and with soft-tissue hemangiomas. Somatic mutations of the isocitrate dehydrogenase (IDH) gene have been detected in enchondroma and hemangioma tissue from patients with Maffucci syndrome. The rate of malignant transformation in Maffucci syndrome is high, with enchondromas transforming into chondrosarcomas and the development of secondary neoplasms, including pancreatic and hepatic adenocarcinoma, mesenchymal ovarian tumors, and brain tumors such as glioma. Read More

J Neurosurg 2016 Jun 16;124(6):1562-7. Epub 2015 Oct 16.

National Institute of Neurological Disorders and Stroke, Surgical Neurology Branch, National Institutes of Health, Bethesda, Maryland.

Maffucci syndrome 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). Read More

J Coll Physicians Surg Pak 2015 Oct;25(10):774-5

Department of Paediatrics. Lahore General Hospital/PGMI, Lahore.

Ollier's disease also known as enchondromatosis is a rare skeletal disorder that is usually sporadic, non-hereditary, and characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood with more obvious symptoms, such as deformities or improper limb growth. It carries high risk of skeletal, visceral and brain malignancy seen in approximately 25% of patients. Read More

Histopathology 2016 Jun 25;68(7):1073-8. Epub 2015 Nov 25.

Department of Pathology, Rizzoli Institute, Bologna, Italy.

Aims: Chondrosarcoma is primarily a tumour of adulthood and old age. Some studies indicate that survival is worse in paediatric than in adult chondrosarcomas. In view of the rarity of paediatric chondrosarcoma, few large studies are currently available. Read More

Klin Onkol 2015 ;28 Suppl 2:2S47-51

Background: Maffucci syndrome is a rare congenital nonhereditary disease characterized by multiple hemangiomas and enchondromas, which may progress into malignancy. The causal therapy does not exist, and therapy is aimed at complications. The determination of appropriate therapy is complicated, and a multidisciplinary approach is often essential. Read More

Am J Orthop (Belle Mead NJ) 2015 Sep;44(9):E343-6

Department of Orthopaedic Surgery and Musculoskeletal Oncology, Medical College of Wisconsin, Milwaukee, WI.

Ollier disease, or multiple enchondromatosis, has a distinct hallmark of disease variability and requires individualized patient treatment. This is a case report of an 18-year-old woman with Ollier disease isolated to her left hand that was treated nonoperatively for 8 years and followed with serial radiographs. Prognosis of Ollier disease limited to the bones of the hands is believed to be very good: only 12 cases of transformation to chondrosarcoma have been reported in the literature. Read More

J Pediatr 2015 Nov 11;167(5):1159-9.e1. Epub 2015 Sep 11.

Department of Dermatology, Venereology, and Leprosy, R.G. Kar Medical College, Kolkata, India.

Iran J Pathol 2015 ;10(3):237-42

Chronic respiratory Diseases Research Center, NRITLD, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

World Neurosurg 2016 Jan 5;85:365.e7-15. Epub 2015 Sep 5.

São Paulo Skull Base Center, São Paulo, Brazil; São Paulo ENT Center, Professor Edmundo Vasconcelos Hospital, São Paulo, Brazil.

Background: Maffucci syndrome is a nonhereditary disorder in which patients develop multiple enchondromas and cutaneous, visceral, or soft tissue hemangiomas. The potential malignant progression of enchondroma into a secondary chondrosarcoma is a well-known fact. Nevertheless, chondrosarcoma located at the skull base in patients with Maffuci syndrome is a very rare condition, with only 18 cases reported in the literature. Read More

Case Rep Orthop 2015 10;2015:656542. Epub 2015 Aug 10.

Department of Orthopedic Surgery, Gulhane Military Medicine Academy, 06010 Ankara, Turkey.

Objectives. The aim of the study was to investigate the results of patients with isolated length discrepancy between ulna and radius who underwent distraction osteogenesis with unilateral external fixator. Material and Methods. Read More

Pan Afr Med J 2015 14;20:358. Epub 2015 Apr 14.

Service de Chirurgie Orthopédique et de Traumatologie, CHU Ibn Sina, Rabat, Maroc.

Am J Med Genet A 2015 Nov 14;167A(11):2758-66. Epub 2015 Jul 14.

Lady Hardinge Medical College and Associated Kalawati Saran Children Hospital, New Delhi, India.

Genochondromatosis is an extremely rare autosomal dominant disorder, which manifests during childhood and tends to regress in adult life. The bony lesions are symmetrically distributed with characteristic localization at the metaphysis of proximal humerus and distal femur. Two types have been described based on the involvement of clavicle. Read More

PLoS One 2015 10;10(7):e0131998. Epub 2015 Jul 10.

Department of Tissue Regeneration, Institute for Frontier Medical Sciences, Kyoto University, Kyoto, Japan; Department of Cell Growth and Differentiation, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan; Department of Orthopaedic Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Somatic mutations in the isocitrate dehydrogenase (IDH)1/2 genes endow encoding proteins with neomorphic activity to produce the potential oncometabolite, 2-hydroxyglutarate (2-HG), which induces the hypermethylation of histones and DNA. The incidence of IDH1/2 mutations in cartilaginous tumors was previously shown to be the highest among various types of tumors, except for those in the central nervous system. Mutations have been detected in both benign (enchondromas) and malignant (chondrosarcomas) types of cartilaginous tumors, whereas they have rarely been found in other mesenchymal tumors such as osteosarcomas. Read More

Ann Thorac Surg 2015 Jul;100(1):327

Department of Cardiothoracic Surgery, Ain Shams University Hospital, Cairo, Egypt.

J Craniomaxillofac Surg 2015 Sep 3;43(7):1248-55. Epub 2015 Jun 3.

State Key Laboratory of Military Stomatology, Department of Oral Biology, Clinic of Oral Rare and Genetic Diseases, School of Stomatology, the Fourth Military Medical University, 145 West Changle Road, Xi'an 710032, PR China. Electronic address:

Objective: To report on the molecular genetic analysis of a Chinese patient with Maffucci syndrome.

Methods: Using the genomic DNA extracted from the patient's hemangioma sample, the coding exons and exon/intron splice junctions of the IDH1 and IDH2 genes were amplified by polymerase chain reaction (PCR) and then sequenced. Genomic DNA was extracted from blood and a hemangioma sample from the patient, and also from her mother's blood, for chromosome microarray analysis (CMA) by Affymetrix CytoScan HD array. Read More

Orthopedics 2015 Jun;38(6):e497-506

Ollier disease (Spranger type I) is a rare bone disease that is characterized by multiple enchondromatosis with a typical asymmetrical distribution and confined to the appendicular skeleton. The pathogenesis of enchondromatosis is not clearly understood. Recently, heterozygous mutations of PTHR1, IDH1 (most common), and/or IDH2 genes have been suggested by various authors as genetic aberrations. Read More

Oncotarget 2015 Jun;6(17):14832-42

Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.

Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found in a somatic mosaic fashion in patients with multiple enchondromas. Enchondromas are benign cartilaginous tumors arising in the medulla of bone. The mutant IDH1/2 causes elevated levels of D-2-hydroxyglutarate (D-2-HG). Read More

J Foot Ankle Surg 2015 Sep-Oct;54(5):836-9. Epub 2015 May 27.

Professor, Department of Orthopedic Surgery, Inje University Ilsan Paik Hospital, Goyang, Korea. Electronic address:

The present study is a review of 20 patients with enchondroma of the foot treated from January 2005 to March 2012. All patients were examined clinically, followed by an evaluation of their enchondroma of the foot radiographically and an assessment of the outcome of their surgical intervention. The patients' sex and age, enchondroma location, findings from imaging studies such as plain radiography, computed tomography, and magnetic resonance imaging, clinical findings, operative findings, and treatment outcomes were recorded. Read More

Indian J Dermatol Venereol Leprol 2015 Jul-Aug;81(4):412-4

Department of Medicine, Section of Dermatology, University of the Philippines - Philippine General Hospital, Manila, Philippines.

ANZ J Surg 2015 Apr 22. Epub 2015 Apr 22.

Department of Thoracic Surgery, GATA Haydarpasa Training Hospital, Istanbul, Turkey.