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Acta Ortop Mex 2019 Sep-Oct;33(5):325-328

Departamento de Piel y Partes Blandas del Instituto Nacional de Cancerología. Secretaría de Salud. Ciudad de México. México.

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. Read More

Best Pract Res Clin Rheumatol 2020 Apr 3:101505. Epub 2020 Apr 3.

Department of Radiology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 35, Entrance C, location C118/ reference point C109, 8200, Aarhus N, Denmark. Electronic address:

Multiple hereditary exostoses (MHE) and enchondromatosis are rare multifocal benign disorders usually causing skeletal deformities appearing already in childhood. MHE is a dominant autosomal inherited disorder characterized by multiple osteochondromas (exostoses) growing outward from the metaphyses of long bones as well as from flat bones. They may cause reduced joint motion and pain due to tendon, muscle, and nerve compression. Read More

Am J Med Genet A 2020 May 7;182(5):1093-1103. Epub 2020 Mar 7.

McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Ollier disease (OD) and Maffucci syndrome (MS) are characterized by multiple enchondromas. Patients with MS also have benign vascular overgrowths that become malignant in 8.5% of cases. Read More

J Obstet Gynaecol India 2020 Feb 12;70(1):81-85. Epub 2019 Jun 12.

3Tehran University of Medical Sciences, Tehran, Iran.

Objective: Granulosa cell tumor (GCT) is a rare entity of ovarian malignancies. Juvenile GCT is considered a malignant tumor with an indolent course and tendency toward late recurrence. However, the association of this tumor and multiple enchondromas has been reported. Read More

Front Oncol 2019 14;9:1507. Epub 2020 Jan 14.

Center for Genetic Medicine, Children's National Health System, Washington, DC, United States.

Anaplastic astrocytomas are aggressive glial cancers that present poor prognosis and high recurrence. Heterozygous IDH1 R132H mutations are common in adolescent and young adult anaplastic astrocytomas. In a majority of cases, the IDH1 R132H mutation is unique to the tumor, although rare cases of anaplastic astrocytoma have been described in patients with mosaic IDH1 mutations (Ollier disease or Maffucci syndrome). Read More

J Pediatr Neurosci 2019 Oct-Dec;14(4):228-231. Epub 2019 Dec 3.

Department of Neurosurgery, Shatabdi Hospital Phase 2, King George Medical University, Lucknow, Uttar Pradesh, India.

Glioblastoma (GBM) is an aggressive cancerous neoplasm of the brain that has numerous morphological subtypes. Primitive neuroectodermal differentiation (hereafter, referred to as embryonal tumor [ET] differentiation) in GBM is one of them and is known to occur in adults. Their presentation in pediatric population is rare and can be a source of diagnostic confusion. Read More

Cureus 2019 Nov 14;11(11):e6157. Epub 2019 Nov 14.

Dermatology, Oklahoma University Health Sciences Center, Oklahoma City, USA.

In this study, we report a four-year-old male with D-2-hydroxyglutaric aciduria (D2HA) and enchondromatosis with a prior history of hyperpigmented, segmental whorls and streaks on his abdomen who later presented with an eruption of angiokeratoma circumscriptum within a similar distribution. His condition can likely be explained by underlying somatic mosaicism; however, a unifying culprit gene mutation has not yet been identified. To date, only 10 reported cases of D2HA with enchondromatosis are available in the literature with three reported skin findings. Read More

Arch Pathol Lab Med 2020 01;144(1):71-82

From the Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston.

Context.—: Cartilaginous tumors represent one of the most common tumors of bone. Management of these tumors includes observation, curettage, and surgical excision or resection, depending on their locations and whether they are benign or malignant. Read More

Indian J Otolaryngol Head Neck Surg 2019 Oct 10;71(Suppl 1):652-656. Epub 2018 Aug 10.

2Department of Otolaryngology, Head and Neck Surgery and Communication Sciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Maffucci syndrome is an extremely rare sporadic disease, characterized by multiple enchondromas and associated with multiple hemangiomas and/or lymphangiomas. First case was reported in 1881, and fewer than 200 case have been reported to date. Potential sarcomatous malignant transformation have been noticed in previous cases. Read More

Int J Surg Case Rep 2019 23;63:147-152. Epub 2019 Sep 23.

College of Health Sciences, University of Zimbabwe, Parirenyatwa Hospital, Mazowe Street, P.O. Box A168, Avondale, Harare, Zimbabwe.

Introduction: Maffucci's syndrome is a rare congenital, non-hereditary mesodermal dysplasia characterised by multiple enchondromas and vascular lesions. To our knowledge this is the first report of tubular adenoma of the breast in association with Maffucci's syndrome.

Presentation Of Case: We report a 31-year-old female who presented with a large, ulcerated slow-growing painless breast mass. Read More

Klin Onkol 2019 ;32(Supplementum2):79-91

Background: Ovarian tumors in childhood and adolescence are distinguished from those that arise in adulthood by their histological subtype. These tumors may arise as the first manifestation of a cancer predisposition syndrome. Correct diagnosis of the syndrome may offer the possibility of surveillance for other members of the patients family. Read More

Orthopade 2020 Jan;49(1):66-69

Klinik für Hand- und Plastische Chirurgie, Kantonsspital Frauenfeld, Spital Thurgau AG, Pfaffenholzstraße 4, 8500, Frauenfeld, Schweiz.

Malignancy occurs more often in multiple enchondromas than in solitary enchondromas. In the hands the rate is about 14%. We amputated the third ray of the hand in a young man with recurrence of an enchondroma. Read More

Skeletal Radiol 2020 Jan 5;49(1):115-124. Epub 2019 Jul 5.

Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Blvd 99, 8200, Aarhus N, Denmark.

Objective: To analyze the results of annual screening using whole-body magnetic resonance imaging (WBMRI) in patients with multiple hereditary exostoses (MHE) and enchondromatosis (EC), and estimate the risk for transformation to chondrosarcoma (CS) in these disorders.

Materials And Methods: A total of 62 patients (57 with MHE and five with EC) screened during a mean follow-up period of 4.6 years (range, 1-10 years) using 253 WBMRIs (median four WBMRIs per patient, range, 1-10) were analyzed retrospectively. Read More

Virchows Arch 2019 Nov 25;475(5):625-636. Epub 2019 Jun 25.

Division of Clinical Pathology, Molecular Pathology Unit, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva, Switzerland.

Mosaic somatic mutations in the isocitrate dehydrogenase 1/2 (IDH1/2) genes have been identified in most enchondromas by targeted mutation analysis. Next-generation sequencing (NGS), that may detect even low-level mosaic mutation rates, has not previously been applied to enchondromas. Immunohistochemistry using the H09 clone is routinely used as a surrogate for the common R132H IDH1 mutation in gliomas. Read More

World Neurosurg 2019 Oct 22;130:e356-e361. Epub 2019 Jun 22.

Department of Neurosurgery, Mayo Clinic, Rochester, Minnesota, USA. Electronic address:

Background: Maffucci syndrome (MS) and Ollier disease (OD) are rare diseases characterized by multiple benign enchondromas. The incidence of skull base (SB) enchondromas and the risk of malignant transformation remain unknown. Most SB lesions are asymptomatic, and surgical resection carries significant morbidity. Read More

Indian J Anaesth 2019 May;63(5):400-402

Department of Anaesthesia and Intensive Care, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Maffucci syndrome is an extremely rare, sporadic, and nonhereditary disease characterized by enchondromatosis, bony abnormalities, and vascular malformations. We report a successful anaesthetic management of an adult patient with Maffucci syndrome scheduled for surgical excision of parathyroid adenoma, who had numerous enchondromas, haemangiomas, and skeletal deformities involving different parts of the body and posing significant challenge during positioning, securing intravenous access, and insertion of endotracheal tube. Awareness about this syndrome is of paramount importance because similar patients may be encountered with increasing frequency for incidental or corrective surgeries. Read More

Dermatol Ther 2019 05 29;32(3):e12919. Epub 2019 Apr 29.

Department of Dermatology, Division of Pediatric Dermatology, Stanford University School of Medicine, Stanford, California.

Maffucci syndrome is a rare genetic disease due to somatic mutation of IDH1 gene. Currently there is no medical treatment available for spindle cell hemangioma associated with this disorder. Here we report successful management of these hemangiomas using sirolimus in combination with surgery. Read More

Monaldi Arch Chest Dis 2019 Apr 5;89(1). Epub 2019 Apr 5.

Department of Translational Medical Sciences, University of Campania "L. Vanvitelli", Monaldi Hospital, Naples.

Lung cancer is the leading cause of cancer-related death worldwide and majority of patients are diagnosed in advanced/metastatic disease stage. Sites of distant metastases mainly include contralateral lung, lymph nodes, brain, bones, adrenal glands and liver; skeletal muscles metastases (SMMs) are less common. Psoas muscle and diaphragm metastases are mainly found during autopsy, as their involvement commonly is asymptomatic. Read More

Clin Imaging 2019 Jul - Aug;56:77-80. Epub 2019 Mar 13.

New York Presbyterian Hospital-Weill Cornell Medical Center, New York, NY, USA.

Juvenile granulosa cell tumor (JGCT) is an extremely rare ovarian tumor that has been associated with Maffucci syndrome. It both secretes hormone and has been postulated to grow in response to hormone. We present a case of a 33-year-old G1P0 asymptomatic woman with a history of Maffucci syndrome found to have a left adnexal mass on routine ultrasonography at 13 weeks gestation. Read More

World Neurosurg 2019 Jul 12;127:103-108. Epub 2019 Mar 12.

Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, Sichuan, P.R. China. Electronic address:

Background: Ollier disease (OD) is a rare, nonhereditary bone disease that is characterized by the presence of multiple enchondromatosis (3 or more) with a typical asymmetric distribution which is mainly confined to the appendicular skeleton. OD's most serious complication is the transformation of an enchondroma into chondrosarcoma. The most common sites for chondrosarcoma are in the pelvic and shoulder bones, the superior metaphyseal and diaphyseal regions of the extremities. Read More

Zhonghua Bing Li Xue Za Zhi 2019 Mar;48(3):199-203

Department of Pathology, Henan Provincial People's Hospital, Zhengzhou 450003, China.

To investigate the histological type and clinicopathological characteristics of the craniocerebral slope tumors with chondromucinous features. Retrospective analysis was conducted to analyze chondromucinous tumors in the slope area diagnosed at Henan Provincial People's Hospital from October 2011 to June 2018. Relevant clinical and pathological data were reviewed, and immunohistochemistry was used to investigate the immunophenotype of the tumors. Read More

Dermatol Ther 2019 05 20;32(3):e12851. Epub 2019 Feb 20.

Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.

Maffucci syndrome is characterized by multiple benign vascular anomalies and enchondromas present on the distal extremities. Effective treatment options are currently not available for Maffucci syndrome-associated vascular lesions. Sirolimus is a mTOR pathway inhibitor, and has been tried successfully in the treatment of various vascular anomalies. Read More

J Neurosurg 2018 Dec;131(6):1829-1834

Departments of1Neurosurgery and.

Maffucci syndrome (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 to the pathogenesis of MS and OD. Occasionally, patients with these disorders may also present with central nervous system (CNS) tumors; however, detailed genetic analyses are limited. Read More

Acta Orthop Traumatol Turc 2019 Jan 3;53(1):68-73. Epub 2018 Dec 3.

Department of Pathology, Istituto Ortopedico Rizzoli, Bologna, Italy.

Tumor-to-tumor metastasis in the same bone is an extremely rare condition. Limited number of case reports exists for coincidence of benign and malign neoplasms but none for malignant to malignant metastasis. Occurrence of several individual malignancies in the same patient may eventually cause such coexistences. Read More

Brain Tumor Pathol 2018 Oct 29;35(4):202-208. Epub 2018 Aug 29.

Department of Pathology, Duke University Medical Center 3712, Davison Building, Durham, NC, 27710, USA.

Ollier disease (OD) and Maffucci syndrome are rare conditions due to a post-zygotic somatic mutation that results in mosaicism. In addition to enchondromas and hemangiomas, some of these patients also develop other unrelated tumors, such as gliomas, that harbor IDH mutations, suggesting that an IDH mutation is a common genetic event in the tumorigenesis in this group of patients. We illustrate an interesting case of multifocal IDH-mutant astrocytomas in an OD patient with 8 years of follow-up. Read More

JBJS Case Connect 2018 Jul-Sep;8(3):e54

Department of Orthopaedic Surgery and Rehabilitation, University of Texas Medical Branch at Galveston, Galveston, Texas.

Case: A 29-year-old man with mild hemophilia A and Ollier disease presented with bilateral atraumatic forearm pseudotumors. Both forearm pseudotumors were successfully treated surgically with staged radical extirpation and factor VIII replacement therapy.

Conclusion: Pseudotumors typically occur in adolescents with severe, poorly controlled hemophilia A. Read More

Mol Syndromol 2018 May 24;9(3):134-140. Epub 2018 Apr 24.

Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey.

Dysspondyloenchondromatosis (DSC) is a rare form of generalized enchondromatosis and characterized by short stature with unequal limb length, multiple enchondromas in metaphyseal and diaphyseal parts of the long tubular bones, and progressive kyphoscoliosis. Although the gene mutation was found to be responsible for DSC, a case of DSC with no pathogenic mutation in the gene has also been reported, suggesting that the condition is genetically heterogeneous. Here, we report 2 novel heterozygous mutations in in 2 patients with DSC. Read More

Skeletal Radiol 2018 Nov 10;47(11):1577-1582. Epub 2018 May 10.

Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA) (OMIM 614875) is a severe chondrodysplasia combined with a urinary excretion of D-2-hydroxyglutaric acid. Here, we reported the tenth case of this disease. A 15-year-old boy had symmetric radiolulencies in the metaphyses of the long bones suggesting enchondromatosis and platyspondyly. Read More

Medicine (Baltimore) 2018 Apr;97(17):e0512

Department of Nuclear Medicine, The Affiliated Hospital of Southwest Medical University.

Rationale: Metachondromatosis (MC) is a very rare genetic disease, which is infrequently reported worldwide, which leads to osteochondroma and enchondromatosis. The disease has been shown to be associated with loss of function of the tumor suppressor gene "protein tyrosine phosphatase, non-receptor type 11" (PTPN11).

Patient Concerns: A 12-year-old female was admitted to the hospital with pain due to an enlarged mass in her left fifth finger. Read More

Indian J Dermatol Venereol Leprol 2019 May-Jun;85(3):291-294

Department of Dermatology, Farhat Hached University Hospital, Sousse, Tunisia.

Maffucci syndrome is a rare nonhereditary disorder comprising of lymphovascular malformations and multiple enchondromas, which may be associated with several internal malignancies. This report describes a new association of Maffucci syndrome with pedal synovial sarcoma. Our case is also remarkable as lymphangioma circumscriptum is the sole lymphovascular component, which has been rarely reported. Read More

J Hand Surg Am 2018 10 16;43(10):946.e1-946.e5. Epub 2018 Mar 16.

Université Paris Descartes, Sorbonne Paris Cité, Department of Pediatric Orthopedics, Hôpital Necker Enfants Malades, Paris, France.

Purpose: The objective of the present study was to evaluate the outcome of surgical treatment of hand lesions in Ollier disease (OD) carried out during childhood.

Methods: A retrospective review was carried out of 10 pediatric patients with hand involvement of OD, who had undergone surgery for metacarpal or phalangeal enchondromas. The technique comprised curettage and cortical bone reconstruction with corticoplasty, to restore a near-normal phalangeal volume. Read More

Eklem Hastalik Cerrahisi 2018 Apr;29(1):34-9

Department of Orthopedics and Traumatology, Oncology Training and Research Hospital, 06200 Demetevler, Ankara, Turkey.

Objectives: This study aims to evaluate the diagnosis and treatment approaches of the rarely seen chondrosarcomas of the phalanges of the hand.

Patients And Methods: Fifty-two patients (27 males, 25 females; mean age 41.2 years; range 12 to 70 years) with chondroid lesions localized in hand phalanges who were performed surgical treatment between December 2012 and September 2016 were retrospectively reviewed. Read More

BMJ 2018 02 14;360:k246. Epub 2018 Feb 14.

Trauma and orthopaedics department, St George's University Hospitals NHS Foundation Trust, London, UK.

Am J Med Genet A 2018 03 5;176(3):618-637. Epub 2018 Feb 5.

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

The anatomical collection of the Anatomical Museum of Leiden University Medical Center (historically referred to as Museum Anatomicum Academiae Lugduno-Batavae) houses and maintains more than 13,000 unique anatomical, pathological and zoological specimens, and include the oldest teratological specimens of The Netherlands. Throughout four centuries hundreds of teratological specimens were acquired by more than a dozen collectors. Due to the rich history of this vast collection, teratological specimens can be investigated in a unique retrospective sight going back almost four centuries. Read More

Lab Invest 2018 04 16;98(4):414-426. Epub 2018 Jan 16.

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

The discovery of mutations in genes encoding the metabolic enzymes isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), and fumarate hydratase (FH) has expanded our understanding not only of altered metabolic pathways but also epigenetic dysregulation in cancer. IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. IDH1/2 mutations result in excess production of the oncometabolite (D)-2-hydroxyglutarate. Read More

Chirurg 2018 Apr;89(4):319-330

Klinik und Poliklinik für Gefäßchirurgie und Endovaskuläre Chirurgie, Universitätsklinikum, Universität zu Köln, Kerpener Str. 62, 50937, Köln, Deutschland.

Vascular malformations are congenital vascular anomalies with normal endothelial turnover, which can affect the whole vessel tree (arterial, capillary or lymphatic) both as isolated defects or as part of a syndrome. Developmental errors during embryogenesis, such as abnormal signaling processes that control the apoptosis, maturation and growth of vascular cells, lead to the persistence of vascular plexus cells with some degree of differentiation. Vascular malformations are usually present at birth, although symptoms or complications may be manifested later. Read More

J Endocr Soc 2017 Jan 12;1(1):51-56. Epub 2017 Jan 12.

Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.

Context: Maffucci syndrome 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.

Case Description: We describe the case of a young patient presenting a history suggestive of secondary arterial hypertension and typical features of Maffucci syndrome (multiple hemangiomas and enchondromas), which were unrecognized over the previous 3 decades. Read More

Brain Tumor Pathol 2018 Jan 9;35(1):36-40. Epub 2017 Dec 9.

Department of Neurosurgery, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan.

Enchondromatosis is a rare skeletal disorder characterized by the development of multiple enchondromas, which can also manifest non-cartilage tumors including gliomas. Here, we describe a genetic analysis of a low-grade glioma that developed in an enchondromatosis case. A 32-year-old man with a long history of enchondromatosis developed a left frontal tumor. Read More

Acta Ortop Mex 2017 May-Jun;31(3):141-144

Shriners Hospital for Children-Mexico. Av. del Imán Núm. 257, Col. Pedregal de Santa Úrsula, CP 04600, Deleg. Coyoacán, Ciudad de México. México.

Objective: The aim of this study was to evaluate the functional and radiographic results of adolescent patients with angular deformities of the pelvic limbs treated with an open wedge osteotomy system.

Material And Methods: Observational, prospective, analytical and cross-sectional study of patients with angular deformity of the pelvic limbs treated with an open wedge osteotomy. We made a radiographic evaluation of the femorotibial angle, MAD angle, lower limb discrepancy, and pre- and postoperative degrees of the rotational center of deformity (CORA), as well as a telephone survey of the postoperative functional evaluation IKDC 2000. Read More

BMC Med Imaging 2017 12 2;17(1):58. Epub 2017 Dec 2.

Orthopedic Department of French Medical Institute for Mothers and Children (FMIC), Kabul, Afghanistan.

Background: Ollier's disease is a non-hereditary, benign bone tumor which is usually characterized by presence of multiple radiolucent lesions (enchondromas) in the metaphysis of long bones with unilateral predominance. The disease is a rare clinical entity with 1/100000 occurrence in early childhood. Patients mostly present with multiple hard swellings and deformity of the tubular bones specially hands and feet with leg discrepancy and pathologic fractures. Read More

Otol Neurotol 2018 Jan;39(1):e52-e53

Department of Otolaryngology, Head and Neck Surgery, Loyola University Medical Center, Maywood, Illinois.

Diagn Pathol 2017 Nov 10;12(1):79. Epub 2017 Nov 10.

Department of Gastrointestinal Surgery, The First Affiliated Hospital of Sun Yat-Sen University, 58 Zhongshan Second Road, Guangzhou, 510080, China.

Background: Maffucci syndrome 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.

Case Presentation: We report a 26-year-old female who was diagnosed with Maffucci syndrome along with sclerosing angiomatoid nodular transformation (SANT) of the spleen. Read More

Genes Chromosomes Cancer 2017 12 23;56(12):855-860. Epub 2017 Sep 23.

Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands.

Spindle cell hemangioma (SCH) is a distinct vascular soft-tissue lesion characterized by cavernous blood vessels and a spindle cell component mainly occurring in the distal extremities of young adults. The majority of cases harbor heterozygous mutations in IDH1/2 sporadically or rarely in association with Maffucci syndrome. However, based on mosaicism and accordingly a low percentage of lesional cells harboring a mutant allele, detection can be challenging. Read More

Surg Pathol Clin 2017 Sep;10(3):749-764

Department of Medical Genetics and Skeletal Rare Diseases, Rizzoli Orthopedic Institute, Via Pupilli 1, Bologna 40136, Italy.

Tumor syndromes, including bone neoplasias, are genetic predisposing conditions characterized by the development of a pattern of malignancies within a family at an early age of onset. Occurrence of bilateral, multifocal, or metachronous neoplasias and specific histopathologic findings suggest a genetic predisposition syndrome. Additional clinical features not related to the neoplasia can be a hallmark of specific genetic syndromes. Read More

Clin Neurol Neurosurg 2017 Sep 18;160:147-151. Epub 2017 Jul 18.

Centre de référence des maladies osseuses constitutionnelles, Hopital Necker Assistance Publique-Hôpitaux de Paris, France et Imagine Institute, INSERM U1163, Paris, France.

Objectives: To estimate the prevalence rate of silent cranial and intracranial lesions in a series of Ollier-Maffucci patients.

Patients And Methods: Cerebral MRI was routinely performed in Ollier-Maffucci patients followed-up in our tertiary centers. Patients with previous history of skull base or intracranial tumors were excluded from the study. Read More

Pediatr Blood Cancer 2017 Dec 24;64(12). 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

BMJ Case Rep 2017 Apr 17;2017. Epub 2017 Apr 17.

Cappagh National Orthopaedic Hospital, Dublin, Ireland.

Am J Dermatopathol 2018 Aug;40(8):e111

Departments of Dermatology, and.