This practice set contains high-yield board review questions covering key concepts in 10. Pathology and Oncology. Each clinical scenario is designed to test your diagnostic and management skills relevant to this subspecialty.
Question 3201
Topic: 10. Pathology and Oncology
A 50-year-old female has a chronically swollen knee. MRI is obtained.
Which specific MRI sequence characteristic most definitively establishes the diagnosis of lipoma arborescens?
Correct Answer & Explanation
. High signal intensity on T1-weighted images that suppresses on fat-saturated sequences
Explanation
The defining MRI feature of lipoma arborescens is a villous, frond-like synovial mass that follows the signal intensity of subcutaneous fat on all sequences (high on T1/T2) and completely suppresses on fat-saturated sequences.
Question 3202
Topic: 10. Pathology and Oncology
While lipoma arborescens is generally considered a benign, slow-growing neoplastic condition, it is most frequently encountered in patients with a history of which of the following underlying joint pathologies?
Correct Answer & Explanation
. Osteoarthritis
Explanation
Lipoma arborescens can occur as a primary condition but is most commonly considered a reactive process secondary to chronic synovial irritation. It is most frequently associated with underlying degenerative joint disease (osteoarthritis) or prior joint trauma.
Question 3203
Topic: Soft Tissue Tumors & Metastasis
A 38-year-old female presents with a slowly enlarging, boggy right knee effusion. MRI reveals a large, villous synovial mass in the suprapatellar pouch.
To reliably differentiate lipoma arborescens from Pigmented Villonodular Synovitis (PVNS) on MRI, which of the following imaging characteristics is most uniquely diagnostic of lipoma arborescens?
Correct Answer & Explanation
. Complete suppression of the synovial mass signal on fat-saturated T1-weighted sequences
Explanation
Lipoma arborescens consists of mature adipose tissue, so it follows fat signal on all sequences (high on T1/T2) and completely suppresses on fat-saturated images. In contrast, PVNS exhibits low signal on T1/T2 and distinct blooming artifact on GRE sequences due to hemosiderin deposition.
Question 3204
Topic: 10. Pathology and Oncology
A diabetic patient has a 2 cm plantar ulcer under the first metatarsal head. During clinical examination, a sterile blunt probe is introduced into the ulcer and touches hard, gritty bone. What is the most likely diagnosis based on this specific clinical finding?
Correct Answer & Explanation
. Osteomyelitis
Explanation
A positive 'probe-to-bone' test in the presence of a diabetic foot ulcer has a high positive predictive value for underlying osteomyelitis. This clinical finding warrants further evaluation, typically starting with plain radiographs and potentially an MRI or bone biopsy.
Question 3205
Topic: Bone Tumors
A 14-year-old boy presents with a painful, enlarging mass on his right thigh 3 weeks after sustaining a minor femur fracture. Radiographs demonstrate exuberant bone formation that mimics osteosarcoma. Physical examination also reveals limited forearm pronation and supination. What is the most likely genetic mutation responsible for his underlying condition?
Correct Answer & Explanation
. IFITM5
Explanation
Correct Answer: CThis patient's clinical presentation is classic for Osteogenesis Imperfecta (OI) Type V. This distinct form of OI is characterized by hyperplastic callus formation following fractures (which can be large, painful, and easily mistaken for osteosarcoma) and calcification of the interosseous membrane of the forearm, leading to restricted rotation and potential radial head dislocation. Unlike the majority of OI types (I-IV) which are caused by mutations in the type I collagen genes (COL1A1 or COL1A2), OI Type V is associated with mutations in the IFITM5 gene. SMN1 mutations cause Spinal Muscular Atrophy, and FBN1 mutations cause Marfan syndrome.
Question 3206
Topic: 10. Pathology and Oncology
A 14-year-old boy presents with a painful, enlarging mass on his right femur following minor trauma 3 weeks ago. Radiographs demonstrate a massive, dense callus formation without signs of malignancy. Physical examination reveals limited forearm pronation and supination bilaterally, and his sclerae are white. Genetic testing for this patient is most likely to reveal a mutation in which of the following genes?
Correct Answer & Explanation
. IFITM5
Explanation
Correct Answer: CThis patient's clinical presentation is classic for Osteogenesis Imperfecta (OI) Type V. This specific type is characterized by the triad of hyperplastic callus formation (which can mimic osteosarcoma radiographically but is benign), calcification of the interosseous membrane of the forearm (leading to restricted rotation and potential radial head dislocation), and the absence of blue sclerae. Unlike the vast majority of OI cases (Types I-IV) which are caused by mutations in the type I collagen genes (COL1A1orCOL1A2), OI Type V is caused by a specific heterozygous mutation in theIFITM5gene.
Question 3207
Topic: 10. Pathology and Oncology
A 48-year-old male develops progressive lower extremity weakness and multiple insufficiency fractures. Laboratory workup reveals profound hypophosphatemia, normal calcium, normal parathyroid hormone, and inappropriately low 1,25-dihydroxyvitamin D. What is the pathophysiologic mechanism of this patient's condition?
Correct Answer & Explanation
. Tumor secretion of a phosphaturic hormone leading to renal phosphate wasting
Explanation
This presentation is classic for tumor-induced (oncogenic) osteomalacia. It is caused by a benign mesenchymal tumor secreting FGF-23, which inhibits both renal phosphate reabsorption and 1-alpha-hydroxylase activity.
Question 3208
Topic: 10. Pathology and Oncology
A 62-year-old male presents with increasing pain and malodorous drainage from a chronic sinus tract in his tibia that has been present for 35 years following an open fracture. A recent biopsy of the tract reveals malignant cells. What is the most common histologic subtype of this malignancy?
Correct Answer & Explanation
. Squamous cell carcinoma
Explanation
Marjolin's ulcer is a rare, aggressive malignancy arising in chronically inflamed or scarred skin, such as a chronic osteomyelitis draining sinus tract. Squamous cell carcinoma is the most common histologic type, often requiring wide excision or amputation.
Question 3209
Topic: 10. Pathology and Oncology
A 50-year-old patient with end-stage renal disease undergoes a transiliac bone biopsy. The histomorphometric analysis demonstrates wide osteoid seams and an increased mineralization lag time.
Which of the following underlying mechanisms best explains this specific finding?
Correct Answer & Explanation
. Impaired conversion of 25-hydroxyvitamin D to 1,25-dihydroxyvitamin D
Explanation
Osteomalacia in renal osteodystrophy is characterized by wide osteoid seams due to defective mineralization. This results primarily from the failing kidney's inability to synthesize 1-alpha-hydroxylase, causing a deficiency in active vitamin D.
Question 3210
Topic: 10. Pathology and Oncology
A 55-year-old man presents with generalized bone pain and profound muscle weakness. Laboratory studies reveal hypophosphatemia, normal serum calcium, elevated alkaline phosphatase, and elevated FGF-23 levels. What is the most likely etiology of his osteomalacia?
Correct Answer & Explanation
. Phosphaturic mesenchymal tumor
Explanation
Tumor-induced (oncogenic) osteomalacia is a paraneoplastic syndrome caused by small phosphaturic mesenchymal tumors that inappropriately secrete FGF-23. Elevated FGF-23 leads to profound renal phosphate wasting and subsequent osteomalacia.
Question 3211
Topic: 10. Pathology and Oncology
A 52-year-old male presents with severe diffuse bone pain and muscle weakness. Radiographs reveal multiple pseudofractures (Looser zones). Labs demonstrate marked hypophosphatemia. A whole-body DOTATATE PET scan reveals a small soft-tissue mass in the plantar aspect of the foot. Resection of this mass will most likely normalize the level of which of the following?
Correct Answer & Explanation
. Fibroblast growth factor 23 (FGF23)
Explanation
This is a classic presentation of tumor-induced (oncogenic) osteomalacia. The tumor autonomously secretes FGF23, which causes renal phosphate wasting; excision of the tumor cures the condition.
Question 3212
Topic: 10. Pathology and Oncology
A bone biopsy from a patient with undiagnosed metabolic bone disease demonstrates abundant unmineralized osteoid seams that are abnormally thick (>15 micrometers). The mineralization lag time is significantly increased. Which of the following conditions is most consistent with these histological findings?
Correct Answer & Explanation
. Osteomalacia
Explanation
Thickened, unmineralized osteoid seams and an increased mineralization lag time are the hallmark histological features of osteomalacia. This reflects defective mineralization of newly formed bone.
Question 3213
Topic: 10. Pathology and Oncology
A 52-year-old man presents with diffuse bone pain and proximal muscle weakness. Laboratory studies show hypophosphatemia, normal serum calcium, normal PTH, and elevated FGF23. A small mesenchymal tumor is found in his thigh. Complete surgical excision of the tumor will most likely lead to which of the following?
Correct Answer & Explanation
. Rapid normalization of serum phosphate and resolution of symptoms
Explanation
Tumor-induced (oncogenic) osteomalacia is a paraneoplastic syndrome where a phosphaturic mesenchymal tumor secretes excess FGF23, causing renal phosphate wasting. Complete surgical excision is curative, leading to rapid normalization of phosphate and vitamin D levels.
Question 3214
Topic: 10. Pathology and Oncology
A 45-year-old male presents with worsening lower extremity pain, muscle weakness, and multiple rib fractures. Laboratory studies reveal severe hypophosphatemia, normal calcium, elevated alkaline phosphatase, and low 1,25-dihydroxyvitamin D. PTH is normal. A PET scan reveals a small soft-tissue mass in the plantar aspect of his foot. Overproduction of which of the following substances by this tumor is responsible for his condition?
Correct Answer & Explanation
. Fibroblast growth factor 23 (FGF23)
Explanation
Tumor-induced osteomalacia is a paraneoplastic syndrome caused by phosphaturic mesenchymal tumors that secrete FGF23. FGF23 promotes renal phosphate wasting and decreases calcitriol production.
Question 3215
Topic: 10. Pathology and Oncology
A 50-year-old male presents with profound muscle weakness and multiple pseudofractures. Laboratory studies show hypophosphatemia, normocalcemia, normal PTH, and inappropriately low 1,25-dihydroxyvitamin D. Which of the following is the most likely etiology?
Correct Answer & Explanation
. FGF23-secreting mesenchymal tumor
Explanation
This profile is classic for tumor-induced osteomalacia. A phosphaturic mesenchymal tumor secretes FGF23, which causes renal phosphate wasting and inhibits 1-alpha-hydroxylase, reducing active vitamin D.
Question 3216
Topic: 10. Pathology and Oncology
To confirm a suspected diagnosis of osteomalacia and assess bone turnover dynamics, an undecalcified bone biopsy is obtained.
Which of the following labeling agents is administered prior to the biopsy to evaluate the mineralization apposition rate?
Correct Answer & Explanation
. Tetracycline
Explanation
Double tetracycline labeling involves giving tetracycline courses spaced out over time. It binds to newly mineralized bone, allowing measurement of the mineralization apposition rate on an undecalcified biopsy under fluorescent light.
Question 3217
Topic: 10. Pathology and Oncology
In a patient with CREST syndrome, which of the following represents the most widely accepted orthopedic indication for surgical excision of calcinosis cutis lesions?
Correct Answer & Explanation
. Painful exophytic lesions causing skin ulceration and recurrent infection
Explanation
Calcinosis cutis in CREST syndrome is generally managed nonoperatively. Surgery is indicated primarily when lesions become painful, exophytic, and cause skin breakdown leading to recurrent infections.
Question 3218
Topic: Bone Tumors
A 14-year-old girl undergoes curettage of a 3.5 cm lytic bone lesion in the distal femur. The histology is shown.
Microscopy reveals loose fibrovascular connective tissue intermixed with irregular osteoid without atypical mitoses. Her pain was poorly relieved by NSAIDs. What is the diagnosis?
Correct Answer & Explanation
. Osteoblastoma
Explanation
The size greater than 2 cm, incomplete response to NSAIDs, and classic histology of loose fibrovascular stroma with irregular osteoid distinguish osteoblastoma from osteoid osteoma. Atypical mitoses and permeative growth into normal bone are absent, differentiating it from osteosarcoma.
Question 3219
Topic: 10. Pathology and Oncology
A 7-year-old boy presents with fever, swelling, and pain in the midshaft of his femur. Radiographs show a permeative diaphyseal lesion with an onion-skin periosteal reaction. Cytogenetics reveal a t(11;22) translocation. Which fusion gene is associated with this condition?
Correct Answer & Explanation
. EWS-FLI1
Explanation
Ewing sarcoma is classically characterized by the t(11;22) chromosomal translocation. This translocation results in the EWS-FLI1 fusion protein, which acts as an aberrant transcription factor.
Question 3220
Topic: 10. Pathology and Oncology
A 13-year-old boy presents with chronic knee pain. Radiographs show an eccentrically located, lytic epiphyseal lesion in the proximal tibia with a sclerotic margin. Biopsy shows mononuclear cells and chicken-wire calcifications. What is the diagnosis?
Correct Answer & Explanation
. Chondroblastoma
Explanation
Chondroblastoma is a benign, locally aggressive bone tumor that classically occurs in the epiphysis of skeletally immature patients. Histology characteristically demonstrates chondroblasts, multinucleated giant cells, and fine, pericellular chicken-wire calcifications.
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