Enchondromatosis



Enchondromatosis


G. Petur Nielsen, MD

Andrew E. Rosenberg, MD










Radiograph of the right knee shows extensive deformity and shortening of the femur and tibia. The metaphyses of both bones are expanded and contain punctuate cartilaginous calcifications.






Transformation to chondrosarcoma is shown in longstanding enchondromatosis of the distal femur. Gray glistening enchondromas and a destructive hemorrhagic chondrosarcoma are noted.


TERMINOLOGY


Definitions



  • Multiple enchondromas may be associated with Ollier disease or Maffucci syndrome



    • 90% of patients with multiple enchondromas have Ollier disease


    • 10% are associated with Maffucci syndrome


  • Ollier disease is defined as ≥ 3 enchondromas usually affecting short and long tubular bones


  • Maffucci syndrome is defined as ≥ 3 enchondromas associated with extraosseous hemangiomas



    • These hemangiomas were originally classified as cavernous hemangiomas or arteriovenous malformations



      • More recent studies have shown that most of these vascular tumors are spindle cell hemangiomas


ETIOLOGY/PATHOGENESIS


Neoplastic



  • Recently, enchondromas in Ollier disease and Maffucci syndrome have been shown to be caused by somatic mutation involving IDH1 and IDH2


CLINICAL ISSUES


Epidemiology



  • Incidence



    • Rare; exact incidence is not known


  • Age



    • Frequently 1st noted during childhood


    • In patients with Ollier disease, cartilage tumors may stabilize in size after puberty or continue to grow


  • Gender



    • Equal sex distribution


Site



  • Enchondromas may involve



    • Only small bones of hands and feet


    • Only long bones, scapulae, and pelvis


    • Small, long and flat bones


    • Involvement of vertebrae and skull is rare


  • Tends to affect 1 side of body more severely than the other


  • Within long bones, enchondromas are usually metaphyseal-diaphyseal in location


  • Hemangiomas in patients with Maffucci syndrome are usually located in skin or soft tissue



    • May be centered in viscera


  • 1 site of body frequently more severely affected


Presentation



  • Variable: Frequently, initial symptom is related to enlargement of fingers


  • Patients may have anywhere from 3 to hundreds of tumors


  • May be asymptomatic, especially if there are only few enchondromas


  • May cause severe mechanical and cosmetic problems


Natural History



  • In patients with Ollier disease, cartilage tumors may stabilize in size after puberty or continue to grow


  • Development of malignancies within viscera as well as in enchondromas is an important aspect of Maffucci syndrome



    • Carcinomas of pancreas and malignancies of ovaries, brain, and skeleton are commonplace in Maffucci syndrome


  • Chondrosarcoma is major malignancy associated with Ollier disease


Treatment



  • No specific treatment; painful lesions may have to be removed



  • Other forms of corrective surgery, including amputation, may be necessary for severe deformities


  • Treatment as needed for nonosseous lesions of Maffucci syndrome


Prognosis



  • Overall risk of malignant transformation into chondrosarcoma is 40%



    • More common in patients with severe skeletal involvement or involvement of long and flat bones


IMAGE FINDINGS


Radiographic Findings



  • Tumors are multiple; some may arise within medullary cavity and resemble solitary enchondroma


  • Others may be eccentric, arise in cortex or on surfaces of bone, and even span joints


  • In long bones, persistent columns of dysplastic cartilage that originate in growth plate produce linear radiolucencies that extend from metaphysis into diaphysis



    • This is pathognomonic for either Ollier disease or Maffucci syndrome


  • Oblique tubular cartilaginous lesions that follow course of nutrient vessels of bone


  • Severely affected bones are shortened and deformed


  • Phleboliths in soft tissue hemangiomas may be present in patients with Maffucci syndrome


  • Destruction of bone and disappearance of previously seen matrix calcifications point to malignant degeneration


MR Findings



  • Low signal intensity on T1-weighted images and high signal intensity on T2-weighted images


CT Findings



  • Enchondromas are well circumscribed and show variable degree of calcifications


Bone Scan



  • Mild uptake: Demonstrates multiple lesions


MACROSCOPIC FEATURES


General Features



  • Multiple gray glistening nodules that may coalesce into large masses


MICROSCOPIC PATHOLOGY


Histologic Features



  • Similar to those of sporadic solitary enchondromas; frequently demonstrate greater degree of cellularity and cytologic atypia and may contain myxoid matrix


DIFFERENTIAL DIAGNOSIS


Chondrosarcoma



  • In small sample, it can be very difficult to distinguish enchondromas in Ollier disease and Maffucci syndrome from low-grade chondrosarcoma



    • Most important histologic feature is demonstration of infiltrative growth pattern in chondrosarcoma



SELECTED REFERENCES

1. Pansuriya TC et al: Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet. 43(12):1256-61, 2011

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Jul 6, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Enchondromatosis
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