Infarct-associated Bone Sarcomas

Domson, Gregory; Shahlaee, Amir H.; Reith, John D.; Bush, Charles H.; Gibbs, Charles P.

doi:10.1007/s11999-009-0744-7

Cited by 44 publications

(46 citation statements)

References 18 publications

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“…A bone infarction can occur owing to various conditions including corticosteroid therapy, hemoglobinopathy, alcoholism, Gaucher's disease, dysbaric disorders, trauma, infection, and metabolic disorders [1,2,6,9]. A bone infarction is not associated with a soft tissue mass and therefore it cannot be the only diagnosis in our case.…”

Section: Discussion and Treatmentmentioning

confidence: 91%

“…Bone infarcts do not result in significant endosteal scalloping. When associated with MFH, curvilinear radiodensities of the underlying mature bone infarct can be seen blending into areas of permeative and lytic destruction attributable to the malignancy [2]. The osteonecrotic lesion frequently will appear larger than usually is seen, and usually is ill defined with cortical erosion, periosteal reaction, a pathologic fracture, and soft tissue extension [4,5,7,8,10,11,13].…”

Section: Discussion and Treatmentmentioning

confidence: 99%

See 1 more Smart Citation

Chronic Knee Pain in an 80-year-old Woman

Robbin

Pavlidakey

Getty

et al. 2013

Clinical Orthopaedics &Amp; Related Research

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Section: Discussion and Treatmentmentioning

confidence: 91%

Section: Discussion and Treatmentmentioning

confidence: 99%

Chronic Knee Pain in an 80-year-old Woman

Robbin

Pavlidakey

Getty

et al. 2013

Clinical Orthopaedics &Amp; Related Research

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“…However bone infarcts are generally commonly associated with malignant fibrous histiocytomas and osteosarcomas [23]. Domson et al combining data from 57 non-GD patients reported that 69% of all tumors arising from bone infarcts were malignant fibrous histiocytomas, 17% were osteosarcomas, and 9% angiosarcomas [23]. Given that as many as 43% of GD patients have avascular necrosis and bone infarctions [24], it is surprising that no cases of malignant fibrous histiocytoma or osteosarcoma have been reported in literature to our knowledge.…”

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Case series and literature review of skeletal tumors and their incidence in the Gaucher disease population

et al. 2016

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An Ashkenazi Jewish male first presented at age 40 with persistent bone pain and a tender mass on his right leg. This patient was the subject of a prior case report in 1995 [1]. He had onset of persistent bone pain and splenomegaly at age 5 years and at age 10 suffered from avascular osteonecrosis of the right femur. At age 15 years, he suffered from recurrent avascular necrosis of right femur and right humerus. Diagnosis of Gaucher Disease (GD) Type 1 was made on bone marrow biopsy, later confirmed by low leucocyte acid b-glucosidase activity and the finding of homozygosity for N370S mutation in GBA gene. He underwent osteotomy of his right hip at age 18. At age 25 years, the patient suffered from infectious mononucleosis resulting in massive splenomegaly and splenic rupture that necessitated emergency splenectomy. Subsequently, he underwent right hip replacement. At his presentation with right leg mass, the mass and bone pain had been present for the previous 6 months and had worsened until the patient could no longer continue his daily activities. At this time in 1992, enzyme replacement therapy had not yet become the standard of care for GD.Gaucher disease, an autosomal recessive disorder, is a prototype inborn error of metabolism due to biallelic mutations in GBA1 that results in deficiency of lysosomal acid b-glucocerebrosidase, a key enzyme in the degradation pathway of membrane glycosphingolipids [2]. GD displays a heterogeneous clinical presentation affecting multiple organs with major skeletal involvement based on the accumulation of glucocerebroside-laden macrophages, eponymously known as Gaucher cells [3]. The accumulation of primary substrate leads to generation of bioactive lipids that cause immune activation and chronic metabolic inflammation [4,5]. Bone disease was more common and more severe in asplenic patients with GD [2]. In fact, asplenia is a major independent risk factor for avascular osteonecrosis [6].Plain radiographs of tibia showed typical bony lesions of Gaucher disease including osteopenia, extensive bone marrow infarcts, and lytic lesions. In addition, there was a focal mass concerning for a malignant tumor. The tibia was resected and replaced with intercalary allograft, soleus muscle flap, and split thickness skin graft. Subsequently, infectious complications necessitated an above knee amputation.On gross examination, the tumor measured 4 3 4 3 3 cm and was focally friable and hemorrhagic. The tumor was dispersed in sheets and cords within a hyalinized basophilic background. Intensely eosinophilic nucleoli, abundant cytoplasm, and cytoplasmic vacuoles with red blood cells were present. The extraosseous segment showed increasing atypia with primitive anastomosing split like vascular spaces. The bone marrow was extensively necrotic and demonstrated infiltration by Gaucher cells. By immunohistochemistry, the cells stained positive for keratin, factor VIII antigen, Ulex europaeus agglutinin, and vimentin [1]. The cells demonstrated a high nuclear cytoplasmic ratio with striking euchrom...

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“…Med., 2011, 225 (3), 215-220. © 2011 Tohoku University Medical Press An infarct-associated sarcoma is uncommon; approximately 70 cases in the world have been filed in the medical literature (Torres and Kyriakos 1992;Domson et al 2009). The pathogenesis of the malignant transformation remains obscure; however, the reparative tissue adjacent to infarct lesions is the assumed source of the sarcomatous transformation (Mirra et al 1974(Mirra et al , 1977.…”

mentioning

confidence: 99%

A p53 Gene Mutation in Malignant Fibrous Histiocytoma Associated with Bone Infarction

Yamamoto

Takakuwa

Kuroda

et al. 2011

Tohoku J. Exp. Med.

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Transformed sarcomas rarely arise from bone infarct lesions, although the majority of bone sarcomas are primary in origin. However, the pathogenesis of the condition is unknown. In this report, we describe a malignant fibrous histiocytoma with a p53 gene mutation. A 59-year-old woman complained of having pain in her left knee for three months. Plain radiographs of the distal metaphysis of her left femur revealed an ill-defined lytic lesion, which was consistent with a malignant tumor in the infarct lesion. An open biopsy specimen did not show any evidence of malignancy. Immunohistochemical examination of the biopsy specimen failed to show p53 protein-positive cells. However, a mutation in the p53 gene was detected when polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis was performed. A functionally relevant p53 missense mutation in codon 273 of exon 8 [CGT (Arg) -> CAT (His)] was confirmed by direct sequencing. We concluded that this lesion was a malignant bone tumor arising from the bone infarct lesion, and we thus performed a wide resection. The histopathological diagnosis of the resected specimen was that it was a malignant fibrous histiocytoma associated with bone infarction. Immunohistochemistry revealed that the tumor cells were positive for the p53 protein. To our knowledge, our patient is the first patient having a bone infarct-associated sarcoma with a p53 gene mutation. Identification of the p53 mutation helps in diagnosing the malignant transformation of the bone infarct lesion. One pathogenesis of this condition may be a mutation in the p53 gene.

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Infarct-associated Bone Sarcomas

Abstract: Sarcoma associated with bone infarct

Cited by 44 publications

References 18 publications

Chronic Knee Pain in an 80-year-old Woman

Chronic Knee Pain in an 80-year-old Woman

Case series and literature review of skeletal tumors and their incidence in the Gaucher disease population

A p53 Gene Mutation in Malignant Fibrous Histiocytoma Associated with Bone Infarction

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