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Question 6101

Topic: 10. Pathology and Oncology

A 15-year-old boy sustains a minor trauma to his distal phalanx and develops localized swelling. Radiographs show a well-circumscribed lytic lesion in the terminal phalanx without periosteal reaction. He had a crush injury to the same finger five years ago. What is the most likely diagnosis?

. Glomus tumor
. Enchondroma
. Epidermoid inclusion cyst
. Aneurysmal bone cyst
. Osteoid osteoma

Correct Answer & Explanation

. Epidermoid inclusion cyst


Explanation

Epidermoid inclusion cysts of bone most commonly occur in the distal phalanx of the hand following penetrating or crush trauma that drives epidermal elements into the bone. They present as well-defined lytic lesions without matrix calcification.

Question 6102

Topic: 10. Pathology and Oncology

A 28-year-old male with a history of recurrent primary synovial chondromatosis of the hip presents with rapidly increasing pain and a palpable mass. MRI reveals marrow replacement in the femoral neck. What is the most reliable imaging finding suggesting malignant transformation in this patient?

. Presence of greater than 50 loose bodies
. Targetoid appearance on T2-weighted MRI
. Erosion into the adjacent articular cartilage
. Marrow invasion on MRI
. Large joint effusion

Correct Answer & Explanation

. Marrow invasion on MRI


Explanation

Malignant transformation of synovial chondromatosis to secondary chondrosarcoma should be suspected with sudden clinical deterioration. Marrow invasion on MRI is a hallmark sign of malignant transformation, distinguishing it from the benign extrinsic erosion often seen in primary disease.

Question 6103

Topic: Bone Tumors

During surgical curettage of a suspected unicameral bone cyst (UBC) in the proximal humerus of a 10-year-old, the surgeon notes a thick membrane and profuse, pulsatile bleeding from the cavity. What is the most appropriate next step?

. Pack the defect with allograft chips
. Inject absolute alcohol into the cyst
. Obtain an intraoperative frozen section
. Perform wide en bloc resection
. Administer systemic tranexamic acid

Correct Answer & Explanation

. Obtain an intraoperative frozen section


Explanation

Profuse pulsatile bleeding and a thick fleshy membrane in a cystic lesion are characteristic of an Aneurysmal Bone Cyst (ABC) or a telangiectatic osteosarcoma, not a UBC. A frozen section is necessary to rule out malignancy before proceeding with definitive curettage or other treatments.

Question 6104

Topic: 10. Pathology and Oncology

A 45-year-old male with a history of primary synovial chondromatosis of the knee presents with rapid onset of worsening pain and joint swelling over the last 3 months. Imaging demonstrates cortical erosion and a permeative soft tissue mass. What is the approximate rate of malignant transformation associated with this patient's underlying condition?

. Less than 1%
. Approximately 5%
. Approximately 15%
. Approximately 25%
. Greater than 50%

Correct Answer & Explanation

. Approximately 5%


Explanation

Primary synovial chondromatosis has a reported 5% risk of malignant transformation to secondary chondrosarcoma. Rapid clinical deterioration or new erosive changes on imaging should prompt immediate biopsy.

Question 6105

Topic: Bone Tumors

A 9-year-old boy presents with sudden shoulder pain after throwing a baseball. Radiographs reveal a pathologic fracture through a centrally located, expansile radiolucent lesion in the proximal humerus metaphysis. A cortical fragment is seen resting at the dependent portion of the lesion. Which of the following is the most appropriate initial management?

. Immediate open curettage and bone grafting
. Aspiration and injection of methylprednisolone acetate
. Sling immobilization and observation for fracture healing
. En bloc resection and fibular strut allograft
. Percutaneous radiofrequency ablation

Correct Answer & Explanation

. Sling immobilization and observation for fracture healing


Explanation

The 'fallen leaf sign' is pathognomonic for a unicameral bone cyst (UBC). The initial management of a pathologic fracture through a UBC is immobilization to allow fracture healing, which may occasionally lead to spontaneous resolution of the cyst.

Question 6106

Topic: 10. Pathology and Oncology

A 14-year-old girl presents with knee pain. MRI reveals an eccentric, expansile metaphyseal lesion in the distal femur with multiple fluid-fluid levels. Biopsy confirms a primary aneurysmal bone cyst (ABC). Which of the following genetic aberrations is uniquely characteristic of this primary lesion?

. GNAS1 mutation
. t(11;22) translocation
. t(16;17) translocation
. COL1A1 mutation
. EXT1 mutation

Correct Answer & Explanation

. t(16;17) translocation


Explanation

Primary aneurysmal bone cysts are neoplastic processes characterized by a recurrent t(16;17) translocation, which fuses the CDH11 promoter to the USP6 oncogene. This genetic marker differentiates primary ABCs from secondary ABCs.

Question 6107

Topic: Bone Tumors

A 22-year-old woman with known polyostotic fibrous dysplasia presents with progressive symptomatic varus deformity of her proximal femur (shepherd's crook deformity). Surgical reconstruction is planned. Which of the following bone grafting techniques is most appropriate for managing the resultant bony defects after corrective osteotomy?

. Autologous cancellous bone graft
. Allogeneic cancellous bone graft
. Cortical strut allograft
. Demineralized bone matrix with bone marrow aspirate
. Recombinant human BMP-2 on a collagen sponge

Correct Answer & Explanation

. Cortical strut allograft


Explanation

Cancellous bone grafts are rapidly resorbed and replaced by dysplastic woven bone in fibrous dysplasia. Cortical bone grafts are required as they resist resorption and provide necessary long-term structural support.

Question 6108

Topic: 10. Pathology and Oncology

A 45-year-old male presents with chronic knee pain and mechanical catching. Imaging reveals multiple intra-articular calcified bodies. A diagnosis of primary synovial chondromatosis is suspected. Which of the following best describes the fundamental pathophysiology of this condition?

. Cartilage avulsion from repetitive microtrauma
. Osteophyte fragmentation and subsequent nourishment by synovial fluid
. Benign nodular cartilaginous metaplasia of synovial cells
. Hematogenous seeding of primitive chondrocytes into the joint space
. Precipitation of intra-articular calcium pyrophosphate crystals

Correct Answer & Explanation

. Benign nodular cartilaginous metaplasia of synovial cells


Explanation

Primary synovial chondromatosis involves benign nodular cartilage metaplasia of the synovium. Secondary forms result from fragmentation of osteophytes or articular cartilage, usually in the setting of advanced degenerative joint disease.

Question 6109

Topic: 10. Pathology and Oncology

A 12-year-old girl presents with a destructive, expansile lytic lesion in the proximal tibia. MRI reveals multiple fluid-fluid levels within the lesion. An incisional biopsy confirms a primary aneurysmal bone cyst (ABC). Which of the following genetic alterations is highly specific to this primary tumor?

. GNAS1 activating mutation
. EXT1 loss of function mutation
. t(16;17) translocation involving the USP6 gene
. COL1A1 dominant negative mutation
. FGFR3 gain of function mutation

Correct Answer & Explanation

. t(16;17) translocation involving the USP6 gene


Explanation

Primary aneurysmal bone cysts are characterized by a t(16;17) translocation upregulating the USP6 gene. Identifying this mutation helps distinguish primary ABCs from secondary ones arising within other tumors like giant cell tumors or osteoblastomas.

Question 6110

Topic: Bone Tumors

A 9-year-old boy sustains mild trauma to his shoulder. Radiographs show a central, fully radiolucent, mildly expansile lesion in the proximal humeral metaphysis. A small cortical bone fragment is seen resting at the dependent portion of the cyst. What is this sign called?

. Bite sign
. Fallen leaf sign
. Target sign
. String sign
. Sunburst pattern

Correct Answer & Explanation

. Fallen leaf sign


Explanation

The "fallen leaf" or "fallen fragment" sign is pathognomonic for a unicameral bone cyst (UBC). It occurs when a fractured piece of cortical bone settles into the dependent portion of the fluid-filled cyst cavity.

Question 6111

Topic: Bone Tumors

When interpreting advanced imaging for a suspected aneurysmal bone cyst (ABC) in the distal femur, which of the following MRI findings is highly characteristic, though not entirely pathognomonic?

. Solid, homogenous enhancement with gadolinium
. Target sign with a peripheral hyperintense rim
. Fluid-fluid levels on T2-weighted imaging
. Extensive flow voids indicating arteriovenous shunting
. Popcorn-like stippled calcifications

Correct Answer & Explanation

. Fluid-fluid levels on T2-weighted imaging


Explanation

Aneurysmal bone cysts typically show fluid-fluid levels on T2-weighted MRI, representing the sedimentation of blood products of varying ages. While characteristic of an ABC, this finding can also be seen in telangiectatic osteosarcoma.

Question 6112

Topic: 10. Pathology and Oncology

A 55-year-old male with a 10-year history of primary synovial chondromatosis of the hip presents with acute worsening of pain and a rapidly expanding soft tissue mass. If a malignant transformation has occurred, what is the most likely histologic diagnosis?

. Osteosarcoma
. Chondrosarcoma
. Synovial sarcoma
. Fibrosarcoma
. Epithelioid sarcoma

Correct Answer & Explanation

. Chondrosarcoma


Explanation

Although rare, primary synovial chondromatosis can undergo malignant transformation in up to 5% of long-standing cases. The most common resulting malignancy is secondary chondrosarcoma.

Question 6113

Topic: Bone Tumors

A 9-year-old female presents with multiple bony deformities and large cutaneous macules with irregular, jagged borders. She is also noted to have advanced bone age and early breast development. Which of the following is the most likely endocrine abnormality in this patient?

. Hyperparathyroidism
. Hypothyroidism
. Precocious puberty
. Diabetes insipidus
. Cushing's syndrome

Correct Answer & Explanation

. Precocious puberty


Explanation

This patient has McCune-Albright syndrome, which consists of the triad of polyostotic fibrous dysplasia, "Coast of Maine" cafe-au-lait spots, and endocrine abnormalities. Precocious puberty is the most common endocrine manifestation.

Question 6114

Topic: Bone Tumors

To differentiate a simple (unicameral) bone cyst from an aneurysmal bone cyst on plain radiographs, the anatomic location within the host bone is a key feature. Which of the following locations is classic for an active unicameral bone cyst in a child?

. Eccentric in the metaphysis
. Central in the metaphysis adjacent to the physis
. Eccentric in the epiphysis
. Central in the diaphysis
. Intracortical in the diaphysis

Correct Answer & Explanation

. Central in the metaphysis adjacent to the physis


Explanation

Unicameral (simple) bone cysts are classically located centrally within the metaphysis immediately adjacent to the physis in growing children. Aneurysmal bone cysts, by contrast, are characteristically eccentric and expansile.

Question 6115

Topic: 10. Pathology and Oncology

A 45-year-old male presents with long-standing knee swelling and mechanical symptoms. X-rays show multiple uniform intra-articular calcified loose bodies. If this condition undergoes malignant transformation, which of the following is the most likely resulting pathology?

. Osteosarcoma
. Chondrosarcoma
. Synovial sarcoma
. Fibrosarcoma
. Undifferentiated pleomorphic sarcoma

Correct Answer & Explanation

. Chondrosarcoma


Explanation

Primary synovial chondromatosis involves synovial metaplasia and has a 1-5% risk of malignant transformation into secondary chondrosarcoma. Synovial sarcoma does not arise from the synovium or from pre-existing synovial chondromatosis.

Question 6116

Topic: 10. Pathology and Oncology

A 14-year-old girl presents with a painful, expansile, lytic lesion in the proximal humerus. MRI reveals multiple fluid-fluid levels. Which of the following genetic translocations is most characteristic of this primary lesion?

. t(11;22)
. t(X;18)
. t(16;17) (USP6)
. t(2;13)
. t(12;16)

Correct Answer & Explanation

. t(16;17) (USP6)


Explanation

Primary aneurysmal bone cysts (ABCs) are neoplastic processes characterized by translocations involving the USP6 gene on chromosome 17, most commonly t(16;17). The other translocations correspond to Ewing sarcoma, synovial sarcoma, alveolar rhabdomyosarcoma, and myxoid liposarcoma, respectively.

Question 6117

Topic: Bone Tumors

A 25-year-old female presents with multiple expansile "ground glass" bone lesions, cafe-au-lait spots with irregular borders, and a history of precocious puberty. This condition is caused by a somatic activating mutation in which of the following?

. EXT1 gene
. GNAS1 gene
. COMP gene
. FGFR3 gene
. COL1A1 gene

Correct Answer & Explanation

. GNAS1 gene


Explanation

McCune-Albright syndrome is characterized by polyostotic fibrous dysplasia, cafe-au-lait spots with irregular borders, and endocrine abnormalities. It is caused by a somatic post-zygotic activating mutation in the GNAS1 gene, which encodes the alpha subunit of the stimulatory G protein.

Question 6118

Topic: Bone Tumors

A 32-year-old male with polyostotic fibrous dysplasia presents with increasing thigh pain and a progressive "shepherd's crook" deformity of his proximal femur. What is the most appropriate surgical management?

. Curettage and bone grafting with allograft
. Curettage and bone grafting with autograft
. Valgus-producing osteotomy and locked plating
. Corrective osteotomy and intramedullary nailing
. Amputation

Correct Answer & Explanation

. Corrective osteotomy and intramedullary nailing


Explanation

Deformities in fibrous dysplasia, such as the shepherd's crook deformity, are best managed with corrective osteotomies and load-sharing devices like intramedullary nails. Bone grafting is generally ineffective because the graft undergoes resorption and replacement by dysplastic bone.

Question 6119

Topic: 10. Pathology and Oncology

A 5-year-old boy presents with anterior tibial bowing. Radiographs show a purely lytic, intracortical lesion in the anterior diaphyseal cortex of the tibia. A biopsy shows trabeculae of woven bone rimmed by prominent osteoblasts in a fibrous stroma. What other condition must be carefully ruled out due to its histologic and anatomic similarity?

. Ewing Sarcoma
. Osteosarcoma
. Adamantinoma
. Non-ossifying fibroma
. Eosinophilic granuloma

Correct Answer & Explanation

. Adamantinoma


Explanation

Osteofibrous dysplasia classically presents in the anterior cortex of the tibia in young children. It is histologically and radiographically similar to adamantinoma, which must be ruled out as adamantinoma is a low-grade malignancy requiring wide resection.

Question 6120

Topic: Bone Tumors

A 6-year-old boy presents with an asymmetric, painless overgrowth on the medial aspect of his right ankle. Radiographs show an irregular, lobulated mass arising from the medial epiphysis of the distal tibia. What is the most likely diagnosis?

. Multiple hereditary exostoses
. Synovial chondromatosis
. Dysplasia epiphysealis hemimelica (Trevor disease)
. Ollier disease
. Maffucci syndrome

Correct Answer & Explanation

. Dysplasia epiphysealis hemimelica (Trevor disease)


Explanation

Dysplasia epiphysealis hemimelica (Trevor disease) is an asymmetrical, focal overgrowth of cartilage resembling an osteochondroma but arising from the epiphysis. It most commonly affects the medial side of the lower extremity joints, particularly the ankle and knee.