Orthopaedic Pathology

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Chapter 9

Orthopaedic Pathology

section 1 Introduction

STAGING

    Staging systems may be useful for developing evaluation strategies, planning treatment, and predicting prognosis. For musculoskeletal lesions, the staging systems of the Musculoskeletal Tumor Society (also called the Enneking system) and the American Joint Commission on Cancer (AJCC) are the most popular. Enneking system is based on knowing the histologic grade of the lesion (low or high), the anatomic features (intracompartmental or extracompartmental), and the absence (M0) or presence (M1) of metastases.

Enneking system: This staging system can be synthesized into six distinct stages (Table 9-1).

Variables of AJCC system: The most recent edition of the AJCC system has become more popular than Enneking’s system among medical oncologists and many orthopaedic oncologists. A working knowledge of both systems is necessary for examinations. To use this system, the clinician must know the grade, the size, the presence or absence of discontinuous tumor (skip metastases), and the absence or presence of systemic metastases. The various stages are listed in Table 9-2. The order of importance for the variables of the AJCC staging system is as follows: stage (takes into account all factors), presence of metastases, discontinuous tumor, grade, and size.

II GRADING

    Grading can be difficult and is based on nuclear anaplasia (degree of loss of structural differentiation), pleomorphism (variations in size and shape), and nuclear hyperchromasia (increased nuclear staining). Grading of tumors covers a morphologic range.

III TUMOR SITE

    The plain radiographs and special studies, such as computed tomographic (CT) scan and magnetic resonance imaging (MRI), are used to determine how the tumor is situated:

IV METASTASES

EVALUATION

Clinical presentation: Most patients with bone tumors present with musculoskeletal pain. However, the most common presentation of a benign bone tumor in childhood is as an incidental finding.

Physical examination: Patients with suspected bone tumors should be examined carefully.

Imaging studies: Radiographs in two planes are the first imaging studies to be performed. When the clinician suspects malignancy but the radiographs are normal, selected studies may follow.

1. Technetium-labeled bone scan is an excellent modality to search for occult bone involvement. In patients with myeloma for whom scan results may be negative, a skeletal survey is more sensitive.

2. MRI is an excellent modality for screening the spine for occult metastases, myeloma, or lymphoma.

3. A chest radiograph should be obtained for patients of any age when the clinician suspects a malignant lesion.

4. The radiographs must be carefully inspected to formulate a working diagnosis. The working diagnosis then guides the clinician during further evaluation and treatment. Formulation of the differential diagnosis is based on several clinical and radiographic parameters:

image Age of the patient: Knowledge of common diseases in defined age groups is the first step. Certain diseases are uncommon in particular age groups (Table 9-4).

image Number of bone lesions: Is the process monostotic or polyostotic? If there are multiple destructive lesions in middle-aged and older patients (ages 40 to 80 years), the most likely diagnosis is metastatic bone disease, multiple myeloma, or lymphoma. In young patients (ages 15 to 40 years), multiple lytic and oval lesions in the same extremity are probably vascular tumors (hemangioendothelioma). In children younger than 5 years, multiple destructive lesions may represent metastatic disease such as neuroblastoma or Wilms tumor. Histiocytosis X (Langerhans cell histiocytosis [LCH]) may also lead to multiple lesions in the young patient. Fibrous dysplasia and Paget disease may manifest with multiple lesions in all age groups.

image Anatomic location within bone: Certain lesions have a predilection for occurring within a certain bone or a particular part of the bone (Figure 9-1; Table 9-5).

Table 9-5image

Most Common Musculoskeletal Tumors

Tumor Type Tumor Name
Soft tissue tumor (children) Hemangioma
Soft tissue tumor (adults) Lipoma
Malignant soft tissue tumor (children) Rhabdomyosarcoma
Malignant soft tissue tumor (adults) Malignant fibrous histiocytoma
Primary benign bone tumor Osteochondroma
Primary malignant bone tumor Osteosarcoma
Secondary benign lesion Aneurysmal bone cyst
Secondary malignancies Malignant fibrous histiocytoma
Osteosarcoma
Fibrosarcoma
Phalangeal tumor Enchondroma
Sarcoma of the hand and wrist Epithelioid sarcoma
Sarcoma of the foot and ankle Synovial sarcoma

Courtesy of Luke S. Choi, MD, Resident, Department of Orthopaedic Surgery, University of Virginia.

image Typical neoplasms of whole bone:

image Typical neoplasms of part of bone (Table 9-6):

Table 9-6

Spinal Tumors

image

Courtesy of Luke S. Choi, MD, Resident, Department of Orthopaedic Surgery, University of Virginia.

Laboratory studies: Results of blood tests are often nonspecific. A set of routine studies should be obtained when the diagnosis is not obvious. Certain studies are appropriate for younger patients (up to age 40) and others for older patients (40 to 80 years; Box 9-1).

Biopsy: Biopsy is generally performed after complete evaluation of the patient. It is of great benefit to both the pathologist and the surgeon to have a narrow working diagnosis because it allows accurate interpretation of the frozen-section analysis, and definitive treatment of some lesions can be based on the frozen section. Clinicians must follow several surgical principles:

1. The orientation and location of the biopsy tract are critical. If the lesion proves to be malignant, the entire biopsy tract must be removed with the underlying lesion. Transverse incisions should be avoided.

2. The surgeon must maintain meticulous hemostasis to prevent hematoma formation and subcutaneous hemorrhage. When possible, biopsy incisions are made through muscles so that the muscle layer can be closed tightly. Neurovascular structures should be avoided. Tourniquets are used to obtain tissue in a bloodless field and then are released so that bleeding points can be controlled. Avitene, Gelfoam, and Thrombostat sprays are used as necessary. If hemostasis cannot be achieved, a small drain should be placed at the corner of the wound to prevent hematoma formation. A compression dressing is routinely used on the extremities.

3. A frozen-section analysis is performed on all biopsy samples to ensure that adequate diagnostic tissue is obtained. Before biopsy, the surgeon should review the radiographs with the pathologist to plan the biopsy site. When possible, the soft tissue component rather than the bony component should be sampled.

4. All biopsy samples should be submitted for bacteriologic analysis if the frozen section does not reveal a neoplasm. Antibiotics should not be delivered until the cultures are obtained.

5. Needle biopsy is an excellent method for achieving a tissue diagnosis and providing minimum tissue disruption. Careful correlation of the small tissue sample with the radiographs often yields the correct diagnosis. When the nature of the lesion is obvious on the basis of the radiographic features and when adequate tissue can be obtained with a needle, the needle biopsy technique is safe to use. The pathologist must be experienced and comfortable with the small sample of tissue. When the diagnoses of needle biopsy and imaging studies are not concordant, an open biopsy should be performed to establish the diagnosis. Open biopsy is often necessary with low-grade tumors and when the needle biopsy does not provide a definitive diagnosis. Immunostains are helpful in diagnosis (Table 9-7).

Table 9-7

Tumor Immunostains

Tumor Immunostain
Langerhans cell histiocytosis S100, +CD1A
Lymphoma +CD20
Ewing sarcoma +CD99
Chordoma Keratin, S100
Myeloma +CD138
Adamantinoma Keratin

Courtesy of Luke S. Choi, MD, Resident, Department of Orthopaedic Surgery, University of Virginia.

VI TREATMENT

Surgical procedures: The goal of the treatment of malignant bone tumors is to remove the lesion with minimal risk of local recurrence.

1. Limb salvage is performed when two essential criteria are met:

2. Surgical margins are graded according to the system of the Musculoskeletal Tumor Society (Figure 9-2).

image Intralesional margin: The plane of dissection goes directly through the tumor. When the surgery involves malignant mesenchymal tumors, an intralesional margin results in 100% local recurrence.

image Marginal margin: A marginal line of resection goes through the reactive zone of the tumor; the reactive zone contains inflammatory cells, edema, fibrous tissue, and satellites of tumor cells. When malignant mesenchymal tumors are resected, a plane of dissection through the reactive zone probably results in a local recurrence rate of 25% to 50%. A marginal margin may be safe and effective if the response to preoperative chemotherapy has been excellent (95% to 100% tumor necrosis).

image Wide margin: A wide line of surgical resection is accomplished when the entire tumor is removed with a cuff of normal tissue. The local recurrence rate drops below 10% when such a surgical margin is achieved.

image Radical margin: A radical margin is achieved when the entire tumor and its compartment (all surrounding muscles, ligaments, and connective tissues) are removed.

Adjuvant therapy

1. Chemotherapy

2. Radiation therapy

image External beam irradiation is used in the following scenarios:

image For local control of Ewing tumor, lymphoma, myeloma, and metastatic bone disease

image As an adjunct in the treatment of soft tissue sarcomas, in which it is used in combination with surgery.

image For their mechanism of action, which is the production of free radicals and direct genetic damage. There are several complications of radiation therapy:

VII MOLECULAR BIOLOGY

Several bone and soft tissue neoplasms have been associated with tumor suppressor genes or specific genetic defects. For osteosarcoma, the associations are the retinoblastoma tumor suppressor gene. For Ewing tumor, there is a balanced translocation of chromosomes 11 and 22. There is a gene fusion product from this balanced translocation: EWS-FLI1 (Table 9-8).

Table 9-8image

Common Tumor-Associated Genetic Translocations

Tumor Type Genetic Translocation
Myxoid liposarcoma t(12;16)
Ewing sarcoma t(11;22)
Synovial sarcoma t(X;18)
Myxoid chondrosarcoma t(9;22)
Rhabdomyosarcoma t(1;13) or t(2;13)

Courtesy of Luke S. Choi, MD, Fellow, Orthopaedic Sports Medicine, Massachusetts General Hospital.

section 2 Soft Tissue Tumors

INTRODUCTION

    Soft tissue tumors are common. They may appear as small lumps or large masses.

Classification: Soft tissue tumors can be broadly classified as benign or malignant (sarcoma) or characterized by reactive tumor-like conditions (Box 9-2). Lesions are classified according to the direction of differentiation of the lesion: the tumor tends to produce collagen (fibrous lesion), fat, or cartilage.

Box 9-2   Classification of Soft Tissue Tumors

TUMORS AND TUMOR-LIKE LESIONS OF FIBROUS TISSUE

FIBROHISTIOCYTIC TUMORS

TUMORS AND TUMOR-LIKE CONDITIONS OF ADIPOSE TISSUE

TUMORS OF MUSCLE TISSUE

TUMORS OF LYMPH VESSELS

TUMORS AND TUMOR-LIKE LESIONS OF SYNOVIAL TISSUE

TUMORS AND TUMOR-LIKE LESIONS OF PERIPHERAL NERVES

TUMORS AND TUMOR-LIKE LESIONS OF CARTILAGE AND BONE-FORMING TISSUES

TUMORS AND TUMOR-LIKE LESIONS OF PLURIPOTENTIAL MESENCHYME

TUMORS AND TUMOR-LIKE CONDITIONS OF BLOOD VESSELS

TUMORS AND TUMOR-LIKE CONDITIONS OF DISPUTED OR UNCERTAIN HISTOGENESIS

UNCLASSIFIED SOFT TISSUE TUMORS AND TUMOR-LIKE LESIONS

1. Benign soft tissue tumors: These tumors may occur in all age groups. The biologic behavior of these lesions varies from asymptomatic and self-limiting to growing and symptomatic. On occasion, benign lesions grow rapidly and invade adjacent tissues.

2. Malignant soft tissue tumors (sarcomas): Sarcomas are rare tumors of mesenchymal origin. In the United States, there are approximately 9000 new cases of soft tissue sarcoma each year.

image Diagnosis: Patients often experience an enlarging painless or painful soft tissue mass, which is the most common reason for seeking medical attention.

image Treatment: Radiation therapy is an important adjunct to surgery in the treatment of soft tissue sarcomas.

Diagnosis: The evaluation of patients with soft tissue tumors must be systematic to avoid errors.

1. Unplanned removal of a soft tissue sarcoma is the most common error.

2. Delay in diagnosis may also occur if the clinician does not recognize that the lesion is malignant.

3. Patients who have a new soft tissue mass or one that is growing or causing pain should undergo MRI.

4. The MRI scan should be carefully reviewed with a radiologist to characterize the nature of the mass. If it can be determined that the lesion is a benign process such as a lipoma, ganglionic cyst, or muscle tear, then it is classified as a determinate lesion, and treatment can be planned without a biopsy. In contrast, if the exact nature of a lesion cannot be determined, the lesion is classified as indeterminate, and either a needle or open biopsy is necessary to determine the exact diagnosis. Then treatment can be planned.

5. Excisional biopsy should not be performed when the clinician does not know the origin of a soft tissue tumor.

Metastasis: Most soft tissue sarcomas metastasize to the lung.

II TUMORS OF FIBROUS TISSUE

    Fibrous tumors are common, and their characteristics range widely, from small, self-limiting, benign conditions to aggressive, invasive, benign tumors. The malignant fibrous tumors are fibrosarcoma and malignant fibrous histiocytoma.

Calcifying aponeurotic fibroma

Fibromatosis

1. Palmar (Dupuytren) and plantar (Ledderhose) fibromatosis: These disorders consist of firm nodules of fibroblasts and collagen that develop in the palmar and plantar fascia. The nodules and fascia become hypertrophic, producing contractures.

2. Extraabdominal desmoid tumor

image Most locally invasive of all benign soft tissue tumors.

image Commonly occurs in adolescents and young adults.

image On palpation, the tumor has a distinctive “rock-hard” character.

image Multiple lesions may be present in the same extremity (10% to 25%).

image Histologically, the tumor consists of well-differentiated fibroblasts and abundant collagen. The lesion infiltrates adjacent tissues. Immunohistochemistry study reveals positivity for estrogen receptor β, and inhibitors have been used for treatment.

image Surgical treatment is aimed at resecting the tumor with a wide margin.

image Local recurrence is common.

image Radiotherapy has been used as an adjunctive treatment to prevent recurrence and progression.

image Behavior of the tumor is capricious: Recurrent nodules may remain dormant for years or grow rapidly for some time and then stop growing.

Nodular fasciitis

Malignant fibrous soft tissue tumors: Malignant fibrous histiocytoma and fibrosarcoma are the two malignant fibrous lesions.

1. Diagnosis

image Similar clinical and radiographic manifestations; treatment methods are similar

image Patients are generally between the ages of 30 and 80 years.

image Most common manifestation is an enlarging, generally painless mass.

image MRI often shows a deep-seated, inhomogeneous mass that has a low signal on T1-weighted images and a high signal on T2-weighted images. The two lesions may be similar histologically, but there are distinctive features:

image Treatment is by wide-margin local excision. Radiation therapy is employed in many cases when the size of the tumor exceeds 5 cm.

image A common scenario is to deliver radiation preoperatively (5000 cGy), followed by resection of the lesion. A final radiation boost (1400 to 2000 cGy) is then administered postoperatively or with brachytherapy afterloading tubes if the margins are very close or positive.

image Postoperative external beam irradiation (6300 to 6600 cGy) yields equal local control rates, with a lower postoperative wound complication rate but a higher incidence of postoperative fibrosis.

Dermatofibrosarcoma protuberans

III TUMORS OF FATTY TISSUE

    There is a wide spectrum of benign and malignant tumors of fat origin. Each has a particular biologic behavior that guides evaluation and treatment.

Lipomas: common benign tumors of mature fat

1. Occur in a subcutaneous, intramuscular, or intermuscular location

2. History of a mass is long, but sometimes the mass was only recently discovered.

3. Not painful

4. Radiographs may show a radiolucent lesion in the soft tissues if the lipoma is deep within the muscle or between the muscle and bone.

5. CT scan or MRI shows a well-demarcated lesion with the same signal characteristics as those of mature fat on all sequences. On fat suppression sequences, the lipoma has a uniformly low signal. If the patient experiences no symptoms and the radiographic features are diagnostic of lipoma, no treatment is necessary.

6. If the mass is growing or causing symptoms, excision with a marginal line of resection or an intralesional margin is all that is necessary.

7. Local recurrence is uncommon.

8. Several variants:

image Spindle cell lipoma

image Pleomorphic lipoma

image Angiolipoma

Liposarcomas

1. Type of sarcoma; direction of differentiation is toward fatty tissue

2. Heterogeneous group of tumors, having in common the presence of lipoblasts (signet ring–shaped cells) in the tissue

3. Liposarcomas virtually never occur in the subcutaneous tissues.

4. They are classified into the following types:

5. Liposarcomas metastasize according to the grade of the lesion:

IV TUMORS OF NEURAL TISSUE

    The two benign neural tumors are neurilemoma and neurofibroma. Their malignant counterpart is neurofibrosarcoma.

Neurilemoma (benign schwannoma)

1. Benign nerve sheath tumor

2. Occurs in young to middle-aged adults (20 to 50 years of age)

3. Patients have no symptoms except for the presence of the mass.

4. Tumor grows slowly and may wax and wane in size (cystic changes).

5. MRI studies may demonstrate an eccentric mass arising from a peripheral nerve, or they may show only an indeterminate soft tissue mass (low signal on T1-weighted images and high signal on T2-weighted images).

6. Histologically, the lesion is composed of Antoni A and B areas.

Neurofibroma

Neurofibromatosis (von Recklinghausen disease)

Neurofibrosarcoma

TUMORS OF MUSCLE TISSUE

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