Bone and Soft Tissue Pathology Practice Questions

Q: In which condition is pannus formation typically observed?

RA. ***RA*** - **Pannus** is a characteristic feature of **rheumatoid arthritis**, representing an aggressive, hyperplastic synovial tissue that invades and destroys cartilage and bone [1], [2]. - This destructive granulation tissue primarily consists of fibroblasts, macrophages, and inflammatory cells, contributing to joint erosion [1]. *Osteoarthritis (OA)* - While **osteophytes** (bone spurs) and **cartilage degradation** are hallmarks of OA, **pannus formation** is not seen. - OA involves breakdown of articular cartilage due to mechanical stress and biochemical changes, not synovial invasion. *Gout (Gouty Arthritis)* - Gout is characterized by the deposition of **monosodium urate crystals** in joints, leading to acute inflammation [4]. - The formation of **tophi** (urate crystal deposits) is typical, but not **pannus** [4]. *Psoriatic Arthritis (PsA)* - PsA can cause joint inflammation and erosion similar to RA but does not typically involve the extensive **pannus formation** characteristic of RA [3]. - Specific features of PsA include **enthesitis**, dactylitis and involvement of **DIP joints** [3]. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Osteoarticular And Connective Tissue Disease, pp. 677-678. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Bones, Joints, and Soft Tissue Tumors, p. 1212. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Bones, Joints, and Soft Tissue Tumors, pp. 1214-1215. [4] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Bones, Joints, and Soft Tissue Tumors, p. 1218.

Q: Tadpole cells, comma-shaped cells on histopathology are seen in -

Rhabdomyosarcoma. ***Rhabdomyosarcoma*** - **Tadpole cells** and **comma-shaped cells** are characteristic histological features of **rhabdomyosarcoma**, representing primitive mesenchymal cells differentiating towards skeletal muscle. - These cells are often pleomorphic, with eccentric nuclei and fibrillar eosinophilic cytoplasm, giving them their distinctive shapes. *Trichoepithelioma* - This is a benign adnexal tumor of follicular differentiation, characterized by nests of **basaloid cells**, **horn cysts**, and rudimentary hair structures. - It does not typically feature tadpole or comma-shaped cells. *Histiocytoma* - A **benign fibrous histiocytoma** (dermatofibroma) is composed of fibroblasts and histiocytes forming storiform patterns. - **Malignant fibrous histiocytoma** (now often reclassified as undifferentiated pleomorphic sarcoma) features pleomorphic spindle cells and giant cells, but not specifically tadpole or comma-shaped cells. *Leiomyosarcoma* - This is a malignant tumor of **smooth muscle origin**, characterized by spindle cells with blunt-ended nuclei, arranged in fascicles. - It lacks the tadpole or comma-shaped cells seen in rhabdomyosarcoma.

Q: Ewing's sarcoma arises from which type of cells?

Primitive neuroectodermal cells. ***Primitive neuroectodermal cells*** - **Ewing's sarcoma** is a malignant small round blue cell tumor largely believed to arise from **primitive neuroectodermal cells**. - This cellular origin explains why it's often grouped under the term **PNET (Primitive Neuroectodermal Tumor)**. *G cells* - **G cells** are specialized **enteroendocrine cells** found in the stomach and duodenum that secrete **gastrin**. - They are involved in regulating gastric acid secretion and have no association with Ewing's sarcoma. *Totipotent cells* - **Totipotent cells** have the ability to differentiate into **any type of cell**, including embryonic and extraembryonic tissues. - While all cancers originate from cellular changes, Ewing's sarcoma originates from a more specific, committed cell lineage, not totipotent stem cells. *Neurons* - **Neurons** are the basic functional units of the nervous system, responsible for transmitting electrical and chemical signals. - While Ewing's sarcoma has neuroectodermal characteristics, it does not arise from fully differentiated neurons but rather from more **primitive precursors**.

Q: Which of the following soft-tissue lesions has a biphasic histologic pattern and consists of cuboidal epithelial and spindle-shaped mesenchymal cells?

Synovial sarcoma. *Liposarcoma* - Typically presents with **lipoblasts** and does not exhibit a **biphasic histologic pattern**. - Usually lacks **cuboidal epithelial** cells, focusing instead on adipose tissue differentiation. *Nodular fasciitis* [2] - This is a reactive benign lesion characterized by **plump fibroblasts** and **myofibroblasts**, not a malignant neoplasm. - The histological pattern is **monophonic** and does not feature **epithelial components**. *Synovial sarcoma* [1] - Though it can present with a biphasic pattern, it is characterized by **monomorphic spindle cells** and does not consistently show **epithelial components** like cuboidal cells. - Typically associated with **SS18-SSX fusion** genes, which is not an indication of just any malignant neoplasm. *Malignant fibrous histiocytoma* - Characterized by **histiocytic and spindle cell** components but lacks the **epithelial features** that define a biphasic pattern. - Primarily composed of **malignant fibrous histiocytoma**, which does not indicate a specific malignancy associated with epithelial differentiation. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Bones, Joints, and Soft Tissue Tumors, pp. 1225-1226. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Bones, Joints, and Soft Tissue Tumors, pp. 1223-1224.

Q: Which of the following is a marker for Ewing sarcoma?

EWSR1 gene fusion. ***EWSR1 gene fusion*** - **Ewing sarcoma** is characterized by specific chromosomal translocations involving the **EWSR1 gene** on chromosome 22, most commonly **t(11;22)(q24;q12)**, leading to an **EWSR1-FLI1 fusion gene**. - This fusion gene acts as an **aberrant transcription factor**, driving the oncogenesis and giving rise to the characteristic **small round blue cell tumor** morphology. *MDM2 amplification* - **MDM2 amplification** is a genetic alteration primarily associated with **atypical lipomatous tumors/well-differentiated liposarcoma** and **dedifferentiated liposarcoma**. - It is a marker used in the diagnosis of these specific soft tissue sarcomas and is not typically found in Ewing sarcoma. *SS18-SSX fusion* - The **SS18-SSX fusion gene** results from a characteristic chromosomal translocation **t(X;18)(p11.2;q11.2)** and is the defining genetic hallmark of **synovial sarcoma**. - This fusion gene is a critical diagnostic marker for synovial sarcoma and is not present in Ewing sarcoma. *None of the options* - This option is incorrect because **EWSR1 gene fusion** is a well-established and specific marker for Ewing sarcoma.

Q: Which of the following is a bone-forming malignant tumor?

Osteosarcoma. ***Osteosarcoma*** - **Osteosarcoma** is the most common **primary malignant bone tumor**, characterized by the production of **osteoid** (immature bone) by malignant osteoblasts [1], [2]. - It typically arises in the **metaphysis of long bones** (e.g., distal femur, proximal tibia, proximal humerus) and often presents with pain and swelling [1], [2]. *Osteoid osteoma* - **Osteoid osteoma** is a benign bone tumor characterized by a small nidus of **osteoid-forming tissue** surrounded by sclerotic bone. - While it involves osteoid formation, it is **not malignant** and does not metastasize. *Chondroblastoma* - **Chondroblastoma** is a rare, **benign cartilage-forming tumor** that typically occurs in the **epiphysis of long bones** in skeletally immature individuals. - It is composed of chondroblast-like cells and does not produce osteoid or show malignant features. *Giant cell tumor* - **Giant cell tumor** of bone is an **aggressive, locally destructive benign tumor** characterized by numerous osteoclast-like giant cells and spindle-shaped stromal cells. - It arises in the **epiphysis/metaphysis** of long bones (e.g., distal femur, proximal tibia) but is not a bone-forming tumor and is typically not malignant, though it has a high recurrence rate. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Osteoarticular And Connective Tissue Disease, pp. 671-674. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Bones, Joints, and Soft Tissue Tumors, pp. 1200-1202.

Q: The muscle which is affected last with Duchenne muscular dystrophy is-

Ocular. ***Ocular*** - The **extraocular muscles** are typically spared until the very late stages of Duchenne muscular dystrophy (DMD), making them among the last to be affected [1]. - This sparing is a characteristic feature that helps differentiate DMD from some other neuromuscular conditions. *Facial* - While facial muscles can be less severely affected compared to limb muscles, they do show involvement earlier than ocular muscles, contributing to a **mask-like facies** in advanced stages. - Weakness of facial muscles can lead to difficulties with smiling, whistling, and closing the mouth completely *Diaphragm* - The **diaphragm** is a crucial respiratory muscle, and its weakness in DMD is a major cause of **respiratory insufficiency** and mortality, usually occurring in the later stages of the disease progression [1]. - Diaphragmatic involvement typically manifests before ocular muscles are affected, often necessitating ventilatory support. *Abdominal* - **Abdominal muscles** are affected relatively early in the progression of DMD, contributing to difficulties with posture and compromised respiratory function due to poor cough effort. - Weakness in these muscles impacts core strength and stability, preceding the involvement of ocular muscles. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Peripheral Nerves and Skeletal Muscles, pp. 1244-1245.

Q: Which bone is most commonly involved in Paget's disease?

Pelvis. ***Pelvis*** - The **pelvis** is the **most commonly involved bone** in Paget's disease, affected in approximately **60-70% of cases**. [1] - Patients may be **asymptomatic** or present with **pelvic pain**, difficulty walking, or hip problems. [1] - Complications include **acetabular protrusion**, secondary **osteoarthritis of the hip**, and pathological fractures. - The high frequency of pelvic involvement makes it the most characteristic site for this disease. *Femur* - The **femur** is the second most commonly affected bone, involved in approximately **55% of cases**. [1] - Presents with **anterior bowing** ("saber-shin" deformity when tibia is involved), bone pain, and increased risk of **pathological fractures** (classic "chalkstick" or "banana" fracture). [1] - Long bone involvement leads to deformities and gait disturbances. [2] *Skull* - The **skull** is affected in **25-65% of cases**, but is less common than the pelvis. - Leads to **frontal bossing**, enlarged head circumference (**increased hat size**), and **hearing loss** due to ossicle involvement or auditory nerve compression. [1] - Complications include **basilar invagination**, headaches, and rarely cranial nerve deficits. [1] *Vertebrae* - The **spine** (especially lumbar and sacral regions) is involved in approximately **50% of cases**. [1] - Causes **back pain**, **spinal stenosis**, **nerve root compression**, and **kyphosis**. [1] - Vertebral involvement increases the risk of **vertebral compression fractures** and neurological complications. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Bones, Joints, and Soft Tissue Tumors, pp. 1192-1194. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Osteoarticular And Connective Tissue Disease, pp. 660-661.

Q: Which tumor is most commonly associated with radiation exposure?

Osteosarcoma. ***Osteosarcoma*** - **Osteosarcoma** is the most common primary bone tumor and is known to be associated with previous **radiation exposure**, particularly in patients who received radiotherapy for other cancers. - The risk of developing osteosarcoma increases with higher doses of **radiation**, especially when the bone is within the radiation field. *Osteoblastoma* - **Osteoblastoma** is a rare, benign bone tumor that is not typically associated with a history of **radiation exposure**. - It usually presents as localized pain and tenderness and is characterized by the formation of **osteoid tissue** and bone. *Ewing's sarcoma* - **Ewing's sarcoma** is a highly malignant bone tumor of neuroectodermal origin, most commonly affecting children and young adults. - While its exact etiology is unclear, it is not directly linked to **radiation exposure** but rather to specific **chromosomal translocations**, such as t(11;22)(q24;q12). *Osteoclastoma* - Also known as **giant cell tumor of bone**, osteoclastoma is a benign but locally aggressive tumor. - It is not known to be caused by **radiation exposure** but is characterized by its large, multinucleated giant cells resembling osteoclasts.

Q: A 4-year-old boy is brought to the physician by his parents due to frequent falls, inability to jump, and easy fatigue. Physical examination reveals weakness in the pelvic and shoulder girdles, as well as enlargement of the child's calf muscles. The serum level of creatine kinase is elevated. A biopsy of calf muscle reveals marked variation in size and shape of muscle fibers, with foci of muscle fiber necrosis, myophagocytosis, regenerating fibers, and fibrosis. Molecular diagnostic assays performed on muscle biopsy from the patient would show alterations in the length of the primary transcript for which muscle-associated protein?

Dystrophin. ***Dystrophin*** - The clinical features, including muscle weakness, calf muscle hypertrophy, and elevated **creatine kinase**, indicate a muscular dystrophy, most characteristically associated with **dystrophin** deficiency [1]. - **Muscle biopsy results** showing variation in muscle fiber size and necrosis further support the diagnosis of **Duchenne muscular dystrophy**, where dystrophin mutations are commonly identified [1]. *Desmin* - Although desmin is a muscle protein, it is primarily involved in **muscle fiber structure** and not directly associated with the symptoms or findings noted in this case. - Conditions linked to desmin abnormalities usually involve **myofibrillar myopathies**, which present differently than the scenario described here. *Glycogen phosphorylase* - Glycogen phosphorylase is crucial in **glycogen metabolism**, and its deficiency typically leads to metabolic myopathies presenting with **exercise intolerance** rather than the distinct symptoms of muscle necrosis seen here. - The muscle pathology observed (necrosis and regeneration) does not correlate with typical presentations seen in glycogen storage diseases. *Creatine kinase* - While creatine kinase levels are elevated in many muscle disorders, including dystrophies, it is not a structural protein and thus does not fit the question's focus on **primary transcript alterations** [2]. - Measuring creatine kinase assists in diagnosing muscle damage but does not indicate a molecular defect like **dystrophin**. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Peripheral Nerves and Skeletal Muscles, pp. 1244-1245. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Peripheral Nerves and Skeletal Muscles, pp. 1245-1246.

Question 1

In which condition is pannus formation typically observed?

Accepted Answer

RA

Answer

Osteoarthritis (OA)

Answer

Gout (Gouty Arthritis)

Answer

Psoriatic Arthritis (PsA)

Question 2

Tadpole cells, comma-shaped cells on histopathology are seen in -

Accepted Answer

Rhabdomyosarcoma

Answer

Trichoepithelioma

Answer

Histiocytoma

Answer

Leiomyosarcoma

Question 3

Ewing's sarcoma arises from which type of cells?

Accepted Answer

Primitive neuroectodermal cells

Answer

G cells

Answer

Totipotent cells

Answer

Neurons

Question 4

Which of the following soft-tissue lesions has a biphasic histologic pattern and consists of cuboidal epithelial and spindle-shaped mesenchymal cells?

Accepted Answer

Synovial sarcoma

Answer

Nodular fasciitis

Answer

Liposarcoma

Answer

Malignant fibrous histiocytoma

Question 5

Which of the following is a marker for Ewing sarcoma?

Accepted Answer

EWSR1 gene fusion

Answer

SS18-SSX fusion

Answer

MDM2 amplification

Answer

None of the options

Question 6

Which of the following is a bone-forming malignant tumor?

Accepted Answer

Osteosarcoma

Answer

Osteoid osteoma

Answer

Chondroblastoma

Answer

Giant cell tumor

Question 7

The muscle which is affected last with Duchenne muscular dystrophy is-

Accepted Answer

Ocular

Answer

Facial

Answer

Abdominal

Answer

Diaphragm

Question 8

Which bone is most commonly involved in Paget's disease?

Accepted Answer

Pelvis

Answer

Skull

Answer

Vertebrae

Answer

Femur

Question 9

Which tumor is most commonly associated with radiation exposure?

Accepted Answer

Osteosarcoma

Answer

Osteoblastoma

Answer

Ewing's sarcoma

Answer

Osteoclastoma

Question 10

A 4-year-old boy is brought to the physician by his parents due to frequent falls, inability to jump, and easy fatigue. Physical examination reveals weakness in the pelvic and shoulder girdles, as well as enlargement of the child's calf muscles. The serum level of creatine kinase is elevated. A biopsy of calf muscle reveals marked variation in size and shape of muscle fibers, with foci of muscle fiber necrosis, myophagocytosis, regenerating fibers, and fibrosis. Molecular diagnostic assays performed on muscle biopsy from the patient would show alterations in the length of the primary transcript for which muscle-associated protein?

Accepted Answer

Dystrophin

Answer

Creatine kinase

Answer

Desmin

Answer

Glycogen phosphorylase

Bone and Soft Tissue Pathology — MCQs

Bone and Soft Tissue Pathology — MCQs

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