Osteo-fibrous Dysplasia like Adamantinoma: A Diagnostic Dilemma

doi:10.21203/rs.3.rs-2250664/v1

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Osteo-fibrous Dysplasia like Adamantinoma: A Diagnostic Dilemma

https://doi.org/10.21203/rs.3.rs-2250664/v1

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Osteofibrous dysplasia-like adamantinoma is a rare, intermediate grade primary bone tumour of unknown aetiology, which typically involve mid-tibia diaphyseal region. We present a case which was initially suspected as metastasis as patient had underlying colonic cancer. Biopsy was taken twice for confirmatory diagnosis. Patient had an atypical imaging presentation of OFD-like adamantinoma, as the age of the patient and radiographical presentation were more of a classic adamantinoma. The ability to recognize the pattern and distribution and keeping it as a differential is important. MRI findings would be non-specific, but useful in term of locoregional staging. Even though histopathological examination provides definite diagnosis, it may sometimes yield false negative. Bone scan can be useful in detecting primary and metastatic osteoblastic bone tumour. Imaging findings and its closest differentials were discussed.

osteofibrous

dysplasia

adamantinoma

bone

tumour

metastasis

Osteofibrous dysplasia like adamantinoma (OFD/AD) is a rare, intermediate grade primary bone tumour, which typically found at tibial diaphysis.[1] This usually involves immature bone of less than 20 years old, with mean age of 14 years old and no significant gender predilection.[2] While mostly benign, it can undergo malignant transformation.[2, 3] The presenting symptoms are usually nonspecific, as it depends on where the lesion is. A classic adamantinoma is a mixture of epithelial and osteo-fibrous components, hence making radiographic diagnosis challenging due to similarities shared by osteo-fibrous dysplasia (OFD), OFD-like adamantinoma and classic adamantinoma.[4, 5] Thus, accuracy of HPE sampling and diagnosis is important as they differ in mode of treatment. To our knowledge in literature, only 1 reported case of positive in bone scintigraphy, in which demonstrated in this patient.[6, 7] The overlapping imaging features of osteofibrous dysplasia (OFD, OFD/AD and adamantinoma (AD) makes the diagnosis challenging. Due to its rarity, the awareness of among clinicians and radiologists regarding the existence of OFD/AD is important, as it has the risk of malignant transformation. Missing the diagnosis could be fatal to the patient.

A 45-year-old lady, post high anterior resection for rectosigmoid mucinous adenocarcinoma in 2015 with no recurrence or distant metastasis. She refused chemotherapy as the adjuvant treatment. She then later presented in 2017 with insidious left leg pain that caused her difficulty to ambulate. It was exaggerated by walking and relieved by resting. No history of fever, trauma, or constitutional symptoms. There was tenderness at the anterior distal leg region, but no associated soft tissue swelling or skin changes. Otherwise, the rest of clinical examinations were unremarkable. Blood results and tumour markers returned normal values. Left leg radiograph was done and a lesion seen at the distal third of the left tibia.

Worried that this could be a metastasis from the previous colon carcinoma, the patient was referred to orthopaedics team. MRI was requested from the radiology team for further characterization of this lesion.

Abnormal marrow signal at distal 3^rd of left tibial diaphysis, which was heterogeneously isointense to muscle in T1WI, hyperintense in T2WI with avid enhancement in post contrast study. Non enhancing central hypointensity seen in keeping with necrotic center. This lesion is invading most of the surrounding cortical bone now with residual preservation at the lateral aspect. Local soft tissue involvement seen surrounding the lesion.

Looking at the MRI findings, the differential given was metastasis and focal osteomyelitis. The first bone biopsy was subsequently done; however, no malignancy was detected.

Further investigation needed to confirm the nature of this lesion, hence bone scintigraphy was done.

At this moment, the lesion was also suggested to be a primary bone tumour or osteomyelitis rather than metastasis, as it is quite unusual that there would be a large bone metastasis affecting only a single bone.

The orthopaedics team considered the possibility of missing the lesion during the first biopsy, hence second biopsy was done to ascertain the diagnosis.

With the diagnosis was confirmed as osteofibrous dysplasia like adamantinoma, the risk of malignant transformation was explained to the patient, and choices were given for conservative or definite, which was surgery. Patient understood and agreed for surgery. The orthopaedics team proceeded with tumour resection, contralateral fibula graft, screw fixation and plating of left tibia. Operatively, the lesion had involved the adjacent anterior leg muscles.

In regards to the gross operative finding, the distal third of tibia appears swollen, hard and partly covered by soft tissue. The cut section of the tibia shows a fairly circumscribed tumour with pale brownish and grey cut surface.

These histological findings were consistent with osteofibrous like adamantinoma. Post-surgery, patient was referred to physiotherapist for rehabilitation. Surgical wound was healing well, and patient was subsequently discharged.

Osteofibrous dysplasia with adamantinoma (OFD/AD) is a rare primary bone tumour of intermediate grade that typically occurs at the tibial diaphysis.[1] It typically involves immature bone that is less than 20 years old, with a mean age of 14 and no significant gender predisposition.[2] While most of the time it is benign, it can turn malignant.

Osteofibrous dysplasia (OFD) and OFD like adamantinoma (OFD/AD) can hardly be distinguished based on plain radiographs alone.[8] OFD and OFD/AD usually affects skeletally immature patient, while majority of Adamantinoma may occur at any age of a skeletally mature patient. This makes the diagnosis of OFD/AD of this patient a rarity.[1] Histology via open biopsy would provide definitive diagnosis.[9–11] However, in this patient, a second biopsy was needed to confirm the diagnosis. Inaccurate histological diagnosis is possible, if the sample is taken at the periphery of the main lesion, as that is the area where the tissue has overlapping histological features of OFD, OFD/AD and AD.[1] Missing adamantinoma as the diagnosis will be fatal to the patient as reported rate of distant metastasis was 30% and mortality rate was up to 18%.[1, 12]

About 85% of adamantinoma cases involves the tibia. 90% of cases that involved tibia would be located at the diaphysis, as similarly seen in this patient.[12, 13] The typical appearance of adamantinoma would be a lytic expansile lesion with narrow transition zone, with typical soap bubble appearance, which is not seen in this patient.[12, 14] It was also reported that 60% of patients had preceding history of trauma of the affected leg.[1] Soft tissue extension is reported in less than 15% of cases, in which the patient has.[9, 11]

As our patient was known to have primary colon Ca, bone metastasis is one of the main differentials.[15] The low CEA level however lowers the suspicion of metastasis in this patient, as the median CEA level for metastatic colon Ca is 147.5 ng/mL.[16] In metastatic colon Ca, only 3.7–11% clinical cases presented with bone metastasis.[16, 17] It was reported that metastatic colon Ca without lung and liver involvements were extremely rare.[18] Furthermore, an isolated bone metastasis in colon Ca was reported to be as low as 1–2%.[15] In reported cases of colon ca with bone metastasis, the common sites involved are vertebra and pelvis.[15, 16]

Regarding the patient’s MRI, it shows iso-intensity with muscles on T1WI, not suppressed on fat suppressed sequence, high signal on T2WI and T1WI post contrast. However, this appearance is also similarly seen in cases of bone metastasis.[19] In MRI, both OFD and OFD/AD typically has no extra-osseus spread, while it is seen in 15% of cases of adamantinoma, as seen in this patient.[1, 20] Complete medullary involvement is unusual for OFD and OFD/AD, but up to 88% in adamantinoma.[1]

To our knowledge in literature, only 1 reported case of positive in bone scintigraphy, in which demonstrated in this patient.^{1, 10} High scintigraphic activity seen in this patient, hence ruling out multiple myeloma as it is an osteolytic neoplasm, which would not show any increased uptake.¹⁷ Nature of OFD is benign, followed by OFD/AD (intermediate) and Adamantinoma (malignant).[6, 7] Because of that, mode of treatment of these 3 pathologies are different.¹³ Tumour resection is the mainstay of treatment, but incomplete excision has 30% recurrence rate.[10, 22] Resection of OFD/AD is however controversial, as the lesion would normally regress, if the size is small.[1] No chemotherapy done on the patient as study showed that chemotherapy is not effective in managing this disease.[9, 22] Overall, the prognosis of OFD/AD is excellent if diagnosed early, with young age as a good predictor.[1]

Table 1

Features of OFD, OFD/AD, AD and metastasis compared to patient.[1, 4, 23, 24, 25, 26]
Features	OFD	OFD/AD	AD	Metastatic disease	Patient (OFD/AD)
Age	0–20 years old	First 2 decades (mean 14 years old)	20–30 years old (majority)	> 40 years old	45 years old
Common site	Tibial diaphysis	Tibial diaphysis	Tibial diaphysis	Commonly at vertebra and pelvis	Tibial diaphysis
Pain	31%	31%	10–20%	60–90%	Present
History of trauma	Usually none	None	30–60%	Unknown	None
Metastasis	None	Similar to AD (if undergo transformation)	15–29% to lungs and lymph nodes	Not applicable	None
Cortex involvement in radiograph	Anterior	Anterior	May involve posterior cortex	Yes	Posterior cortex
Soap bubble pattern in radiograph	Yes	Yes	Yes	No specific pattern	None
Complete medullary involvement in MRI	Unusual	Unusual	Yes, usually well marginated	No specific pattern	Yes
Extra-osseous spread	Rare	Rare	15% shows extra-osseous soft tissue involvement	Possible	Yes

In conclusion, this is a case of bony lesion that initially were thought as metastasis. OFD/AD is a rare, mostly benign lesion with a potential for malignant transformation. Definite diagnosis can only be made histologically, hence clinicians and radiologists alike needs to consider the clinical history, and the unusual presentation of the disease. The overlapping clinical presentation and imaging features of OFD, OFD/AD and adamantinoma makes the diagnosis challenging, hence recognizing the pattern and distribution as well as keeping it as a differential is important. Early treatment of this disease gives excellent prognosis to the patient.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Informed consent was also obtained from the subject described in this report.

Conflict of interest

The authors declare that they have no conflict of interest.

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Osteo-fibrous Dysplasia like Adamantinoma: A Diagnostic Dilemma

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