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BY

THE JOURNAL

OF

BONE

AND JOINT

SURGERY, INCORPORATED

Malignant Fibrous Histiocytoma of Bone Associated with Type-1 Neurofibromatosis A CASE REPORT BY PANAYIOTIS J. PAPAGELOPOULOS, MD, DSC, ANDREAS F. MAVROGENIS, MD, EVANTHIA C. GALANIS, MD, DSC, GEORGE D. CHLOROS, MD, AND KLEO TH. PAPAPARASKEVA, MD Investigation performed at the Department of Orthopaedic Surgery, Athens University Medical School, Athens, Greece

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on Recklinghausen disease, or neurofibromatosis, is a congenital and familial disorder with an autosomal dominant pattern of inheritance. The disease primarily affects ectodermal tissues arising from the neural crest. It is divided into two basic forms: peripheral (type 1) and central (type 2), characterized by distinct skeletal and soft-tissue manifestations1-6. Type-1 neurofibromatosis usually manifests in early childhood and is more frequent than the type-2 form of the disease7,8. Skeletal abnormalities and dysplasias, including erosive or pressure bone defects, pseudarthroses, and cranial defects, are diagnosed in approximately 80% of patients with type-1 neurofibromatosis. In addition, multiple nonossifying fibromas that predominantly affect the metaphyseal parts of the long tubular bones tend to develop in patients with this type of the disease1. The most serious, and often fatal, complication of the disease is a malignant peripheral nerve sheath tumor. Most cases are located within the soft tissue of the proximal part of an extremity, the buttocks, or the shoulder girdle. Skeletal involvement usually occurs as a result of secondary invasion by a soft-tissue lesion; a primary malignant peripheral nerve sheath tumor in bone is extremely rare9-12. These malignant tumors are highly aggressive, with a high propensity for distant metastases, especially to the lung, liver, and bones11-13. We are aware of only one reported case of irradiationinduced malignant transformation of a neurofibromatous bone lesion of von Recklinghausen disease to malignant fibrous histiocytoma14. We describe the case of a young patient with type-1 neurofibromatosis in whom a malignant fibrous histiocytoma of bone was diagnosed at the site of fibrous bone lesions without previous irradiation. The patient was informed that data concerning the case would be submitted for publication. Case Report thirty-eight-year-old man with von Recklinghausen disease was admitted to our institution because of pain localized in the distal part of the left thigh. The patient had

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manifestations of type-1 neurofibromatosis, including caféau-lait spots and osseous lesions since childhood (Fig. 1). Physical examination revealed localized tenderness at the anterior aspect of the distal part of the left thigh. There was no palpable mass, and routine laboratory data were normal. An-

Fig. 1

Anteroposterior plain radiographs made when the patient was ten years old, showing multiple fibromas in the distal part of the femur and in the tibia bilaterally.

 THE JOUR NAL OF BONE & JOINT SURGER Y · JBJS.ORG VO L U M E 87-A · N U M B E R 2 · F E B R U A R Y 2005

M A L I G N A N T F I B RO U S H I S T I O C Y T O M A TY P E -1 N E U RO F I B RO M A T O S I S

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BONE ASSOCIATED

WITH

Fig. 2

Twenty-eight years later, anteroposterior and lateral plain radiographs of the left femur showing a large destructive lytic lesion in the distal part of the left femur with thinning and erosion of the posterior cortex.

teroposterior and lateral plain radiographs revealed a large destructive lytic lesion in the distal part of the left femur with thinning and erosion of the posterior cortex (Fig. 2). A bone scan showed increased radioisotope uptake in the distal part of the left femur. There was also increased radioisotope uptake in the proximal parts of both tibiae, which was attributed to the existing skeletal neurofibromatosis lesions. Computed tomography showed a large osteolytic lesion in the distal part of the femoral diaphysis and the distal femoral metaphysis, with erosion of the posterior and anterior cortices and medial extension into the vastus medialis. Magnetic resonance imaging of the left thigh revealed an extensive, permeative lesion in the distal metaphyseal-diaphyseal region of

the left femur, with erosion of the posterior cortex associated with a soft-tissue mass (Fig. 3). Computed tomography-guided fine-needle aspiration was performed, but the specimen obtained was not diagnostic and cultures of the specimen were negative. Computed tomography of the chest also revealed negative findings. Histological examination of tissue obtained at a subsequent open biopsy revealed findings suggestive of a sarcoma, probably a malignant fibrous histiocytoma of bone. Wide resection of the tumor, including 20 cm of the distal part of the femur and the surrounding soft-tissue envelope, was performed. After the resection, a modular distal femoral replacement prosthesis (MRS System; Stryker/Howmedica, Mahwah,

Fig. 3

Coronal T1-weighted magnetic resonance image (A), sagittal T2-weighted image (B), axial T1weighted image (C), and axial T1-weighted image with fat suppression (D) showing a lesion in the distal metaphyseal-diaphyseal region of the left femur, with erosion of the posterior cortex associated with a soft-tissue mass.

 THE JOUR NAL OF BONE & JOINT SURGER Y · JBJS.ORG VO L U M E 87-A · N U M B E R 2 · F E B R U A R Y 2005

M A L I G N A N T F I B RO U S H I S T I O C Y T O M A TY P E -1 N E U RO F I B RO M A T O S I S

OF

BONE ASSOCIATED

WITH

Fig. 4

Histological analysis showing pleomorphic spindle cells and large histiocyte-like cells, some of which are multinucleated. Atypical mitosis is seen (hematoxylin and eosin, ×400).

New Jersey) was used for the reconstruction and restoration of the knee joint. A local gastrocnemius muscle flap provided adequate coverage over the reconstruction. Gross examination of the specimen showed an 8 × 7 × 4cm mass in the distal femoral metaphysis and epiphysis, with both cystic and solid areas, eroding the cortex and extending to

the surrounding soft tissues. Histological examination revealed a high-grade malignant bone tumor with features suggestive of a malignant fibrous histiocytoma of bone, without any areas with morphologic features of fibroma or neurofibroma (Fig. 4). The margins of the resection and two regional lymph nodes were free of tumor. Postoperatively, the patient was treated with six cycles of chemotherapy (a combination of Adriamycin [doxorubicin], ifosfamide, and cis-platinum). At the time of the last followup, eighteen months postoperatively, the patient was alive with no local recurrence or distant metastases. Although there was slight quadriceps muscle weakness, the functional result was satisfactory, with a knee range of motion of 0° to 90° (Fig. 5). Discussion everal cases of sarcomas apparently arising at the site of neurofibromatous lesions have been reported5,12,14,15. To our knowledge, however, we have described the first case suggesting the possibility of transformation of a type-1 neurofibromatous bone lesion into a malignant fibrous histiocytoma. Type-1 neurofibromatosis is linked to alterations in, as well as alternate splicing of, the neurofibromatosis 1 (NF1) gene located in the pericentromeric region of chromosome 171,16. The exact role of this gene in the development of benign and malignant tumors in patients with type-1 neurofibromatosis is unknown5,6,17-20. Any correlation of the above genomic alterations and those described in malignant fibrous histiocytoma21 has not been documented. Malignant fibrous histiocytomas arise far more frequently in the soft tissues than in the bones. Malignant fibrous histiocytoma of bone is a rare tumor of unknown origin, accounting for