BONE PATHOLOGY CASE STUDIES

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OBJECTIVE:

Apply your knowledge of bone diseases to interpret clinical history, radiographs, and pathologic findings for diagnosis of bone lesions.

CASE 1

Clinical History:

This is an 18 year old male with a six-month history of progressive pain in his left distal thigh. He had some moderate swelling about his knee. His pain was worse at night. He did not have pain with ambulation. Radiographs demonstrated an osteoblastic lesion of the distal femur) (Slide 1.1).

Slide 1.1

Gross Pathology:

A mass lesion arising in the metaphysis is seen destroying distal femur and extending through the cortex. The lesion is firm with some hard white areas (Slide 1.2).

Slide 1.2

Microscopic Pathology:

The lesion is surrounded by normal trabecular bone which is well- delineated. The neoplasm is composed of areas of bone which show calcification and ossification of the matrix, but these areas are obviously primitive and disorganized. Some areas of the neoplasm show marked cellularity with pleomorphism, hyperchromatism, and mitoses (Slides 1.3 to 1.6).

Slide 1.3

Slide 1.4

Slide 1.5

Slide 1.6

Questions:

1. What is the diagnosis?
2. In whom and at what sites is this lesion most common?
3. Can you name a possible environmental cause for such a lesion? Where are such lesions going to be seen soon?

CASE 2

Clinical History:

This is an 11 year old male who presents with right leg pain. The pain is worse at night and there is no mechanical pain. He has had decreased motion of the knee, secondary to pain. Radiographs demonstrate a lytic lesion in the diaphyseal region of the right fibula (Slide 2.1). Additionally, a magnetic resonance imaging (MRI) scan show a soft tissue mass around the fibula (Slide 2.2).

Slide 2.1

Slide 2.2

Gross Pathology:

There is a soft white mass with hemorrhage located in the diaphysis which expands the bone, erodes the cortex, and is accompanied by prominent periosteal new bone formation (Slide 2.3).

Slide 2.3

Microscopic Pathology:

The lesion is composed of intensely basophilic (blue) staining small round cells. Interspersed with these cells are fibrous strands and areas of necrosis. The small round cells infiltrate bony trabeculae, indicating that they are part of an aggressive lesion (Slides 2.4 to 2.6). Electron microscopy demonstrates glycogen rosettes (Slide 2.7).

Slide 2.4

Slide 2.5

Slide 2.6

Slide 2.7

Questions:

1. What is the diagnosis?
2. In whom and at what sites is this lesion most common?
3. What are some other small round cell tumors of childhood?

CASE 3

Clinical History:

This is a 55 year old male with a long smoking history. He had a recent fracture of his left proximal femur and now has pain in the right distal femur. There was no significant trauma preceding the fracture. The radiograph shows a lytic area with obvious destruction of the cortex (Slide 3.1). A bone scan reveals multiple areas of increased uptake, indicating other lesions in other bones (a "polyostotic" problem) (Slide 3.2).

Slide 3.1

Slide 3.2

Gross Pathology:

Here is seen a vertebral column from another similar case. There are multiple soft tan-white masses seen in the vertebra (Slide 3.3).

Slide 3.3

Microscopic Pathology:

In the lesion are areas of normal trabecular bone interspersed with neoplastic tissue. The neoplastic cells are polygonal and arranged in sheets and nests. Many of them have clear cytoplasm (Slides 3.4 to 3.7).

Slide 3.4

Slide 3.5

Slide 3.6

Slide 3.7

Questions:

1. What is the diagnosis?
2. From the history, what might have you suspected?
3. What descriptive name is given to the fracture in this case?

CASE 4

Clinical History:

A 55 year old caucasian male has noted increasing low back pain, and left proximal leg pain, particularly after sitting for extended periods of time. A radiograph shows coarsened bony trabeculae of the left intertrochanteric region. There is also prominent sclerosis of the left sacroiliac joint. A CT scan of the left proximal femur (Slide 4.1) shows trabecular and cortical thickening without cortical break through or a soft tissue mass. A bone biopsy of the proximal left femur was performed.

Slide 4.1

Microscopic Pathology:

Note the appearance of the bony trabeculae on H&E (Slide 4.2). The trabeculae are seen by polarized light microscopy (Slide 4.3) which demonstrates the lamellae. Normal bone by polarized light microscopy is shown in Slide 4.4. There are also increased numbers of both osteoclasts (multinucleated cells) and osteoblasts (cells lined up along the trabeculae with nucleus at one end) (Slide 4.5).

Slide 4.2

Slide 4.3

Slide 4.4

Slide 4.5

Questions:

1. What is the diagnosis?
2. In whom and at what sites is this lesion most common?
3. What is the clinical course of this disease?

CASE 5

Clinical History:

This is a 15 year old male who presents with a painless mass over the lateral and postero-lateral aspects of the tibia. This mass has been present for three years, and it has slowly expanded. Radiographs demonstrate a bony exostosis growing from the lateral portion of the tibia, but there is no destruction of the tibia (Slide 5.1).

Slide 5.1

Gross Pathology:

The discreet nature of the lesion can be seen in comparison to the radiograph (Slide 5.2). Sectioning of the lesion reveals an outer cap or shell of bluish-white cartilage, while the central portion is composed of bony trabeculae and cartilage (Slide 5.3).

Slide 5.2

Slide 5.3

Microscopic Pathology:

Periosteum overlies a cartilagenous cap. Under this is trabecular bone (Slides 5.4 and 5.5).

Slide 5.4

Slide 5.5

Questions:

1. What does the clinical history tell you about the biologic behavior of this lesion?
2. What is the diagnosis?
3. In whom and at what sites is this lesion most common?
4. What hereditary disease could be associated with multiple lesions of this type?

CASE 6

Clinical History:

This 18 year old female presents with pain and swelling of her right distal thigh associated with activity. She is a cheerleader and notices tenderness after performing acrobatics. She has no history of any trauma. Radiographs show an expansile, eccentric lesion located in the metaphysis of the distal femur that is surrounded by a rim of reactive new bone as a host response (Slide 6.1).

Slide 6.1

Gross Pathology:

The lesion is composed of solid reddish brown tissue interspersed with blood-filled lakes (Slide 6.2).

Slide 6.2

Microscopic Pathology:

There are numerous blood lakes that lack an endothelial lining. These are surrounded by tissue composed of numerous giant cells in a fibroblastic stroma (Slides 6.3 to 6.5).

Slide 6.3

Slide 6.4

Slide 6.5

Questions:

1. What is the diagnosis?
2. What is the major differential diagnosis?
3. In whom and at what sites is this lesion most common?
4. Why should these lesions not be treated with radiation?

CASE 7

Clinical History:

This was a 65 year old female who died as a result of severe occlusive coronary atherosclerosis. She had evidenced increasing kyphosis over the years. She also had senile dementia and was bedridden.

Gross Pathology:

Cross section of the vertebral column shows compression (compressed fracture) of one of the vertebrae (Slide 7.1).

Slide 7.1

Microscopic Pathology:

The bony trabeculae are regular, but thin and sparse (Slide 7.2).

Slide 7.2

Questions:

1. What is the diagnosis?
2. Why did this disease occur in this woman?
3. What is the usual setting for this disease?
4. How does this disease differ from those caused by vitamin D deficiency or by scurvy?

CASE 8

Clinical History:

This is a 46 year old male who presents with progressive pain and swelling of his right lower thigh region. Swelling is worse than the pain. On physical examination, he is obese and it is difficult to assess the right leg. A radiograph showed a mass arising in the distal right femur. A bone scan (Slide 8.1) showed an expansile area of increased uptake in the distal right medial femur. A resection was performed of distal right femur.

Slide 8.1

Gross Pathology:

The tissue from the mass is very irregular on sectioning, with bluish-white color and firm consistency (Slide 8.2).

Slide 8.2

Microscopic Pathology:

Most of the mass consists of poorly formed pale bluish cartilage (Slide 8.3). At higher power, the cartilage is more cellular than normal (Slide 8.4, compare to case 5, Slide 5.5). The chondrocytes are occasionally binucleated, but show minimal atypia, and mitoses are not seen.

Slide 8.3

Slide 8.4

Slide 5.5

Questions:

1. What is the lesion?
2. In whom and at what sites is this type of lesion most common?
3. Name a condition in which multiple cartilagenous tumors are found.

CASE 9

Clinical History:

This 58 year old female has suffered from arthritis with pain and swelling of her hands and feet that is aggravated by movement. Over the past decade she has noted increasing deformity of her hands and feet, making it difficult to walk and to perform simple daily activities such as buttoning a blouse or even combing her hair. She has no history of any trauma. Radiographs show ankylosis of the carpals with residual evidence of MP joint erosion and decreased bone mass of the metacarpals and carpals. Physical examination reveals firm, non-tender, less than 1 cm nodules over the elbows.

Gross Pathology:

Her left hand is shown here (Slide 9.1).

Slide 9.1

Microscopic Pathology:

The synovium is shown (Slides 9.2 to 9.4). Note the cellular, hyperplastic synovial proliferation with many lymphoid nodules containing numerous lymphocytes and plasma cells. The nodule over the elbow is shown in Slide 9.5 and demonstrates a central area of pink necrosis surrounded by palisading macrophages and lymphocytes plus collagen. Another arthritic process is shown in slide 9.6 with erosion and destruction of articular cartilage and marked deformity of the joint surface. In slide 9.7 is seen a proliferative synovitis that could accompany slides 9.1 to 9.4.

Slide 9.2

Slide 9.3

Slide 9.4

Slide 9.5

Slide 9.6

Slide 9.7

Questions:

1. What is the diagnosis?
2. What is the major differential diagnosis for this arthritis and what further testing is helpful?
3. In whom and at what sites is this disease most common?
4. What is the pathogenesis of the lesions?

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