A clinical case of familial Paget’s disease of bone complicated by early osteogenic sarcoma

9 Nov
2011

Case presentation

A 65 years-old Italian woman came to our attention at the Me- dicina-Malattie Metaboliche dell’Osso Department. She came as an outpatient and the reason of the visit was persistent bone pain.

Through family history of the patient, it was possible to ascer­tain a familial form of Paget’s disease of bone (PDB), because the father, two uncles and 4 cousins (2 males and 2 females) were affected by the disease, suggesting that the disease seg­regates in an autosomal dominant pattern (Figure 1). She was diagnosed with Paget’s disease of bone when she was 62 years-old because of the occasional finding of an elevated al­kaline phosphatase and subsequent bone scintigraphy. Bone scintigraphy showed signs of disease at right pelvis, right proxi­mal femur and IV and VIII left ribs.

After the diagnosis of PDB she was followed-up at our Depart­ment with clinical evaluation and dosage of alkaline phos- phatase every 4 months, and she was treated with clodronate infusion whenever bone pain was reported or alkaline phos­phatase level was more than twice the laboratory upper limit.

During the period from the diagnosis of Paget s disease when she was 62 years old until the age of 65, a total of 3 clodronate infusion (each consisting in five days courses with clodronate 300 mg daily) were employed, without significant side effects and with a good response in term of clinical and biochemical parameters.

Three years after the diagnosis of PDB, bone pain at right pelvis markedly increased.

On physical examination she had normal motility of her hips, and tenderness of the right inguinal region was observed. Alkaline phosphatase was 2259 U/L (upper normal limit 145 U/L), with serum calcium levels into the normal range. In the hypothesis of a reactivation of pagetic symptoms, a new clodronate infusion (consisting in five infusions with clodronate 300 mg daily) was employed.

After one month the patient described persistent and increased bone pain at the right hip.

A new dosage of bone turnover markers was done along with blood count and basic chemistry: alkaline phosphatase level was 2160 U/L, markers of inflammation were elevated and mild anemia was found.

Figure 1- Genealogic tree of the patient discussed

Figure 1- Genealogic tree of the patient discussed. Patient case corre­sponds to subject III-6. With kind permission of Alberto Falchetti, M.D.

An x-ray evaluation of the right hip was performed, showing an ill-defined destructive radiolucent lesion in the neck of the fe­mur, with multifocal cortical disruption.

Therefore, the patient was admitted to the Hospital and a bone biopsy was performed at the right hip on the site of involvement. The histologic examination of the biopsy showed “osteoid matrix in which there is a proliferation of spindle cells with atypia, with irregular nuclei. Cells with the same characteristics diffusely infil­trate the muscle present in the specimen”. It was diagnostic of an osteogenic sarcoma with muscle fibers involvement. A chest X-ray was also performed: it showed bilateral pul­monary nodules, subsequently confirmed as secondary dis­semination by CT. Suffer no more! cialis professional online online at a price you can afford.

To further stage the osteosarcoma, an MRI of the hip was per­formed, confirming the involvement of the right femoral neck. According with the Oncologist consultant, the lesion was con­sidered not treatable with surgery because of the metastatic le­sions, and it was decided to start a treatment with ifosfamide (3 g/m2 in 48 hours), adriamicine (60 mg/m2 for 24 hours) and cis- platinum (100 mg/m2 for 48 hours) with a palliative intent. Pamidronate 90 mg e.v. was also administered in order to re­duce local pain.

In the subsequent days, a partial reduction of local pain was observed.

Unfortunately, patient died 3 months after the diagnosis of os- teosarcoma.

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