Bone and Joint Tumors - 13.11.2023 PDF

BONE TUMORS Ass. Prof. Dr. U. Payam Hacısalihoğlu METASTATIC TUMORS ARE THE MOST COMMON TUMORS OF BONE • The most common malignant tumors of the skeletal system are metastatic tumors. • Primary malignant tumors of bone are rare. • Their morphology and clinical development vary widely, from benig...

BONE TUMORS Ass. Prof. Dr. U. Payam Hacısalihoğlu METASTATIC TUMORS ARE THE MOST COMMON TUMORS OF BONE • The most common malignant tumors of the skeletal system are metastatic tumors. • Primary malignant tumors of bone are rare. • Their morphology and clinical development vary widely, from benign to malignant tumors with aggressive behavior. • Benign tumors are the most common primary bone tumors. • They are classified according to their similarity to equivalent normal tissues. • Benign lesions are generally asymptomatic and are detected incidentally. • Some benign tumors present as slow-growing, painful masses. • Sometimes the first symptom may be a pathological fracture. BONE TUMORS • Most bone tumors develop between the ages of 10 and 20. • They tend to develop in the long bones of the extremities. • Certain tumor types target certain age groups and anatomical regions. • It is very important to know the age and location/radiological findings of the tumor to make a correct diagnosis. • Most bone tumors occur without any known cause. • Some are associated with genetic syndromes such as Li-Fraumeni. CLASSIFICATION OF THE BONE TUMORS 1- BONE FORMING TUMORS 2- CARTILAGINOUS TUMORS 3- FIBROUS AND FIBROOSSEOUS TUMORS 4- GIANT CELL BONE TUMORS 5- NOTOCHORDIAL TUMORS 6- OTHER BONE TUMORS 7- METASTATIC TUMORS BONE FORMING TUMORS • OSTEOMA • OSTEOİD OSTEOMA AND OSTEOBLASTOMA • OSTEOSARCOMA OSTEOMA • They are most commonly seen in the head and neck, especially in the paranasal sinuses. • Middle age. • Slow growth rate. • Hard, exophytic masses. • There may be multiple osteomas in association with Gardner Syndrome. • Histopathologically, osteoma looks like a mature, cortical bone. • Benign or locally aggressive. • They do not show malignant transformation. OSTEOMA OSTEOMA Dens, compact, lamellar bone OSTEOID OSTEOMA AND OSTEOBLASTOMA • Both are tumors with similar morphology. • Both lesions occur between the ages of 10-20. • More common in men. • They differ from each other by their clinical findings and size. • Tumors smaller than 2 cm are called Osteoid Osteoma. • Tumors larger than 2 cm are called Osteoblastoma. • Malignant transformation is rare unless the lesion is treated with irradiation. OSTEOID OSTEOMA AND OSTEOBLASTOMA OSTEOID OSTEOMA: They most commonly develop under the periosteum or within the cortex in the proximal femur and tibia or in the posterior spinal elements. Typical clinical history: Localized bone pain that worsens at night and responds to Aspirin. OSTEOBLASTOMA: It is most commonly located in the vertebral column. Although painful, they are not localized and do not respond to Aspirin. OSTEOID OSTEOMA AND OSTEOBLASTOMA NIDUS Osteoid osteoma showing randomly oriented trabeculae of woven bone rimmed by prominent osteoblasts. The intertrabecular spaces are filled by vascular, loose connective tissue. OSTEOSARCOMA • It is the most common primary malignant bone tumor other than myeloma and lymphoma. • It constitutes approximately 20% of primary malignant bone tumors. • Can be seen in all age groups, but 75% of the patients is younger than 20 years old (Primary osteosarcoma). • The second frequency occurs in the elderly and usually develops on the basis of Paget's disease, bone infarcts and prior radiotherapy (>40 years=2ndary osteosarcoma). • More common in men. • RB gene mutations occur in 60% to 70% of sporadic tumors. • Patients with hereditary retinoblastomas (due to germline mutations in the RB gene) have a thousand-fold greater risk for development of osteosarcoma. • The most common localizations: knee in 60%, hip in 15%, shoulder in 10%, chin in 8%. • Usually located in the metaphyses of long bones. • Subtypes such as telangiectatic, small cell, periosteal osteosarcomas. OSTEOSARCOMA • For diagnosis, it is necessary to see histopathologically mineralized or non-mineralized immature bone tissue - OSTEOID - made by malignant cells. • Numerous mutations are responsible for its development. • Retinoblastoma gene mutation is observed in 60-70% of cases, especially sporadic ones. • Painful masses that typically grow rapidly. • The first symptom may be a pathological fracture. • The tumor often pierces the cortex and lifts the periosteum; causing reactive bone formation. • The typical finding which can be detected radiologically, is the Codman triangle. OSTEOSARCOMA OSTEOSARCOMA Periosteal reaction known as Codman triangle OSTEOSARCOMA Malignant Osteoid OSTEOSARCOMA • Atypical cells forming osteoid and atypical mitotic figures OSTEOSARCOMA • Painful enlarging mass. • Hematogenous spread is typical • Lung metastasis is most frequently observed. • Despite its aggressive behavior, 70% of osteosarcomas can be controlled with chemotherapy today. CHONDROID TUMORS • OSTEOCHONDROMA • CHONDROMA/ENCHONROMA • CHONDROBLASTOMA • CHONDROMYXOID FIBROMA • CHONDROSARCOMA OSTEOCHONDROMA • They are common, benign lesions that are connected to the underlying skeleton with a bone stalk and have a cartilage cap on top. • Sporadic tumors are usually solitary and occur in males in early adulthood. • Autosomal dominant hereditary multiple osteochondromas are encountered in children. • Osteochondromas develop only in bones of endochondral origin, in the metaphyses of long tubular bones, in places adjacent to growth plates, especially around the knee. • Sometimes they can develop in the pelvic bones and also in the scapula and ribs. • Their growth stops when the normal growth of the skeleton stops. OSTEOCHONDROMA Your logo here OSTEOCHONDROMA • The size of osteochondromas varies between 1-20 cm • Cartilage cap is usually less than 2 cm • They may be painful due to nerve compression and when their stems are broken. • They grow slowly. Chondroid cap CHONDROMA • They are benign tumors that develop from hyaline cartilage. • When they develop from the medulla, they are called Enchondromas. • Seen between 20-50 years of age and are usually solitary. • They develop mostly from the small tubular bones of the hands and feet. • Multiple chondromas accompany Ollier and Maffuci syndromes. (They contain IDH-1 associated point mutations) • Usually smaller than 5 cm, macroscopically gray-blue, transparent. • They are microscopically benign-looking tumors composed of chondrocytes. CHONDROMA/ENCHONDROMA • They are usually detected incidentally. • They can sometimes be painful and cause pathological fractures. • Malignant transformation is rare when they are solitary. • However, malignant transformation and ovarian cancer/brain gliomas may accompany Maffuci syndrome= multiple enchondromas= enchondromatosis. ENCHNODROMA CHONDROSARCOMA • It is a malignant connective tissue tumor whose cells produce and secrete neoplastic cartilage matrix. • Most patients are over 40 years old. • It is more common in men. • They form a shiny mass that forms within the medullary cavity of the bone and frequently expands, eroding the cortex. • They often develop from the pelvis, shoulder and rib bones • Unlike enchondromas, they rarely involve the distal extremities. • They present as a painful, slowly growing mass. CHONDROSARCOMA • Histologically, they can be low or high grade. • There is a direct relationship between the biological grade of the tumor and its behavior. • Most conventional chondrosarcomas are slow-growing and low-grade, and the 5-year survival is 80% to 90%. • This rate is 43% in high-grade tumors. CHONDROSARCOMA CHONDROSARCOMA Captive bone: Indicator of bone invasion. CHONDROSARCOMA • Tumor size also has prognostic importance: • Tumors larger than 10 cm behave more aggressively than smaller tumors. • Chondrosarcomas cause hematogenous metastasis, especially to the lungs and skeleton. • Treatment requires wide excision. • Mesenchymal type chondrosarcoma and dedifferentiated chondrosarcoma: wide excision+ chemotherapy FIBROUS AND FIBROOSSEOUS TUMORS • FIBROUS CORTICAL DEFECT • NONOSSIFYING FIBROMA • FIBROUS DYSPLASIA FIBROUS CORTICAL DEFECT AND NONOSSIFYING FIBROMA • • • • • • They are DEVELOPMENTAL disorders rather than true neoplasms. They are usually detected incidentally. Most of them are smaller than 5 mm. Common in distal femur and proximal tibia. 50% are bilateral and multiple. Lesions with a diameter of 5-6 cm turn into non-ossifying fibromas FIBROUS CORTICAL DEFECT AND NONOSSIFYING FIBROMA Spindle cells forming a swirl pattern Scattered osteoclast type giant cells FIBR.OUS DYSPLASIA • Contains all components of normal bone • Contrary to its name, it is a benign tumor. • GNAS gene mutations are responsible for all its forms. (somatic mutation and mosaicism) • The prevalence of the findings depends on the stage of embryogenesis when the mutation occurs and the characteristics of the cell carrying the first mutation. • There are 3 clinical forms: • 1- MONOSTOTIC (single bone involvement): 70% • 2- POLIOSTATIC (multiple bone involvement) • 3- The form associated with endocrine disorders, skin pigmentations and precocious puberty due to McCune Albright Syndrome. FIBROUS DYSPLASIA • 70% of the cases: MONOSTOTIC FORM (10-30 years of age). • The most common locations are the ribs, femur, tibia, jaw bones, skull and humerus. • They are often asymptomatic and discovered incidentally. • Significant enlargement and deformity in bones. • They can cause pain and pathological fractures. • POLIOSTATIC FIBROUS DYSPLASIA: younger age (3-15 years of age). not accompanied by endocrine disorders. • Located in femur, skull, tibia and humerus. • Tendency to involve the shoulder and hip area. • Causes severe deformity and spontaneous fractures. FIBROUS DYSPLASIA • Morphologically typical finding: convoluted (Chinese alphabet-like) bone trabeculae within fibrous tissue; not surrounded by osteoblasts. BONE LESIONS WITH OSTEOCLAST LIKE GIANT CELLS • GIANT CELL BONE TUMOR • ANEURYSMAL BONE CYST • BROWN TUMOR/BROWN TUMOR OF HYPERPARATYROIDISM • GIANT CELL REPERATIVE GRANULOMA • NONOSSIFYING FIBROMA • BENIGN FIBROUS HISTIOCYTOMA GIANT CELLS TUMOR OF BONE ❑They are benign but locally aggressive tumors. ❑Seen in people between the ages of 20-40. ❑Numerous osteoclast-type multinuclear giant cells with mononuclear cells in the background. ❑ RANK related ligand activation. ❑The majority of them are located around the knee, epiphysis. ANEURYSMAL BONE CYST • Aneurysmal bone cyst (ABC) is a benign locally destructive bone neoplasm composed of multiloculated blood-filled cystic spaces. • The most common sites of involvement are the meta-diaphysis of the long bones and posterior elements of the vertebrae. • Comprising about 2.5% of all bone tumors. • It has an equal distribution among male and female patients • Most commonly is seen in skeletally immature patients especially in the first two decades of life NOTOCHORDAL TUMORS • CHORDOMA: • It is a malignant tumor that develops from notochord residues in the intervertebral discs. • It is most commonly seen in the sacrocosygeal vertebra region. • BRACHURY specific and sensitive diagnostic marker. OTHER BONE TUMORS • Ewing Sarcoma/PNET group tumors • Other Sarcomas • Metastatic Bone Tumors METASTATIC BONE TUMORS • The most common tumors of bone are metastatic tumors. • Metastasis to bone: May occur through direct extension, lymphatic or hematogenous spread, or intraspinal seeding. • More than 75% of bone metastases in adults originate from prostate, breast, kidney and lung cancers. • Neuroblastoma, Willms tumor, Rhabdomyosarcomas in children METASTATIC BONE TUMORS • Most metastases involve the axial skeleton (spine, pelvis, ribs, skull and sternum), proximal femur and humerus, respectively. • Metastases can be radiologically LYTIC or BLASTIC. • LYTIC metastases, most commonly kidney, lung tumors, melanoma. • BLASTIC metastases, prostate adenocarcinoma. EWING SARCOMA/PNET • Small round cell malignant tumors of bone and soft tissue. • ES is a blastic undifferentiated tumor. • It is the second most common primary sarcoma of the bone after osteosarcoma. • 80% of them ES is under 20 years old. • The most common chromosomal abnormality: rearrangements in the EWS gene occur as a result of t(11;22) or t(21;22) • It originates from the medulla and infiltrates the cortex and periosteum. • Homer-Wright rosettes EWING SARCOMA Homer –Wright rosettes EWING SARCOMA • The diaphysis of long tubular bones (especially the femur) • Painful masses in the flat pelvic bones • Typical periosteal reaction: Onion peel-laminated reaction. AGE DISTRIBUTION IN BONE-CARTILAGINOUS TUMORS • OSTEOGENIC TUMORS: 20 ↓ • EWING'S SARCOMA: 20 ↓ • CHONDROBLASTOMA: 20 ↓ • GIANT CELL TUMOR: 20 ↑ • CHORDOMA: 30-50 • CHONDROSARCCOMA :50 ↑ LOCALIZATION IN BONE/CARTILAGINOUS TUMORS • OSTEOSARCCOMA: Metaphysis of long bones. • CHONDROSARCCOMA: Pelvis (ileum) + Proximal ends of long bones • CHONDROMA: Finger and metatarsal bones • GIANT CELL TUMOR: Epiphysis of long bones • CHONDROBLASTOMA: Epiphysis of long bones • CHORDOMA: Sacrum + Spheno-occipital-nasal • EWING SARCCOMA: Diaphysis of long bones.