Bone Tumors, Joints and Soft Tissue Path Flashcards
Osteochondroma
Behavior, Mutation, Location, Severe Form (2)
Benign
EXT1/EXT2 Mutation
Metaphysis
Mutliple hereditary exostosis: progresses to chondrosarcoma
Enchondroma
Behavior, Location, Mutation, Composition, Syndromes (2) with Descriptions (1/3)
Benign
Metaphysis
IDH1/IDH2
Hyaline Cartilage
Ollier Syndrome: mutliple enchondromas
Maffucci Syndrome: multiple enchondromas + angiomas with increased risk of chondrosarcoma
Chondrosarcoma
Behavior (2) Locations (2) Mutation, Morphology (2) Clinical Feature
Malignant
Metastasizes to lungs (Grade III)
Axial Skeleton
Shoulders
EXT mutation
Calcified matrix making flocculent densities
Multinucleated giant cells
Direct correlation between Grading and prognosis
Osteoid Osteoma
Location, Morphology (3) Clinical Features (2) Treatment
Lower Extremity
<2 cm
Central nidus surrounded by rim of osteoblasts
Thick rind of reactive cortical bone
Pain worst at night
Pain responsive to Aspirin and NSAIDS
Treat with Radiation
Osteoblastoma
Location, Morphology (2) Clinical Feature, Treatment
Posterior spine
> 2 cm
No bony reaction (formation of new bone)
Achy pain unresponsive to aspirin
Curetted or Excised
Osteosarcoma
Behavior (2) Location, Mutations (2) Morphology, Clinical Features (2)
Most common bone malignancy
Metastasis to lungs
Knees
Rb gene
TP53 (Li-Fraumeni syndrome)
Mixed lytic and blastic mass Codman Triangle (Periosteum lifted off bone)
Associated with prior radiation
Painful rapidly enlarging mass
Ewing Sarcoma Family Tumors
Behavior, Location, Mutation (2) Morphology (4) Clinical Features (2) Prognostics
Malignant
Femur diaphysis
t(11;22)(q24:12) translocation
Makes EWS-FL11 fusion gene
Onion-skin lamellations on X ray
Small round blue cell tumor
PNET if neural differentiated: Homer-Wright Rosettes
Tender, warm, swollen mass
Fever
Amount of chemotherapy-induced necrosis is prognostic
Fibrous Dysplasia
Behavior, Locations (3) Mutation, Morphology (2)
McCune Albright Syndrome Features (3)
Benign
Craniofacial bones
Lower extremity
Ribs
GNAS mutation
Ground glass appearance Curvilinear Trabeculae (Chinese characters)
Unilateral Fibrous Dysplasia
Ipsilateral Cafe au Lait spots (hyperpigmented)
Precocious puberty
Giant Cell Tumor of Bone
Behavior, Location (2) Cell type, Clinical Features (2)
Benign
Epiphysis of knee
Osteoclastoma: multinucleated osteoclast-type giant cells
Arthritis-like symptoms
Recur after curretage
Metastasis to Bone
Most Common Primary Tumors
Adult (4) Child (5)
Locations of Secondary tumors (2)
Adult Prostate Breast Kidney Lung
Children Neuroblastoma Wilms Osteosarcoma Ewing Rhabdomyosarcoma
Small bones of hands/feet (lung, kidney, colon)
Axial skeleton
Lytic vs Blastic Lesions
Descriptions with Examples (4/1)
Lytic: bone destroying Lung Kidney GI Tract Melanoma
Blastic: bone building
Prostatic adenocarcinoma
Osteoarthritis
Locations (3) Pathogenesis, Deformities (2) Pathological Course (4) Presentation (3)
Large Joints: Knees/hands in women, hips in men
Water increases in matrix and proteoglycans decrease
Bouchard’s Nodes: PIP joints
Heberden Nodes: DIP joints
Cartilage sloughed (joint mice)
Subchondral bone rubbed smooth (eburnation)
Subchondral cysts develop
Osteophytes form
Joint stiffness worst in evening
Worse with use
Crepitus
Rheumatoid Arthritis Clinical Features (2) Deformities (4) Morphology (3)
Morning stiffness and pain that gets better with use
Affects small joints
Boutonniere: flexion of PIP with extension of DIP
Swan-Neck
Ulnar Finger Deviation
Radial Wrist Deviation
Pannus: hyperplasia of synovium
Lymphoid aggregates
Fibrous/Bony Ankylosis
Rheumatoid Arthritis
Genetics (3) Pathogenesis (3) Diagnostic Tests (2)
PTPN22 gene
HLA-DRB1 gene encoding HLA DR4
Th17 cells secrete IL17, Th1 cells secrete IFN-gamma
Neutrophils recruited, cause synovial proliferation
TNF and IL1 cause protease production
Rheumatoid Factor
CCP
Ankylosing Spondylitis
Genetics, Locations (2) Complications (3)
HLA B27
Vertebrae
Sacroiliac joint
Uveitis
Aortitis
Amyloidosis
Reactive Arthritis
Genetics, Locations (4) Pathogenesis (2) Presentation (4)
HLA B27
Ankles
Knees
Feet
Severe Spine involvement
Prior GI or GU infection
Arthritis
Urethritis/Cervicitis
Conjunctivitis
Cardiac issues
Enteritis Associated Arthritis
Etiologies (4) Locations (2)
Yersinia
Shigella
Salmonella
Campylobacter
Knees
Ankles
Psoriatic Arthritis
Genetics, Deformities (2)
HLA B27
Pencil in cup deformity to DIP’s
Nail changes
Suppurative Arthritis
Etiologies (6) Clinical Features (2) Diagnosis
S. aureus* Gonococcus* H. influenzae (under 2 years) TB Borrelia burgdorferi Viral: HIV, HBV, HCV, EBV, parvo, Rubella
Acutely painful and swollen joint
Knee most affected
Purulent fluid from joint aspiration
Gout
Crystal Morphology, Risk Factors (4) and Clinical Features (3)
Monosodium urate needle-like crystals
Alcohol consumption
Obesity
Thiazide diuretic use
Lead toxicity
Peripheral joints affects (lower temperature)
Excruciating pain
Elevated IL-1
Gout
Primary Characteristics (3)
Secondary Etiologies with Descriptions (3)
Primary:
Enzyme deficiency (HGPRT)
Elevated uric acid production
Normal uric acid excretion
Secondary:
Leukemia: increases nucleic acid turnover
Chronic renal disease: decreased uric acid excretion
Lesch-Nyhan: Elevated uric acid production and decreased uric acid excretion
Pseudo-Gout Crystal Morphology (4)
Calcium Pyrophosphate crystals
Blue-purple crystals on histology
Chalky white friable deposits
(+) Birefringence
Ganglion Cyst
Location (2), Pathogenesis, Morphology (3)
Wrist
Joint capsule or tendon sheath
Cystic or myxoid degeneration
Fluctuant
Pea sized translucent nodule
Wall lacks cell lining
Synovial Cyst
Pathogenesis, Baker Cyst Description (2)
Herniation of synovium through joint capsule
Baker Cyst: found in popliteal space, associated with rheumatoid arthritis
Liposarcoma
Behavior, Locations (2) Mutation (2) Most Common Variant
Malignant
Recur repeatedly unless completely excised
Retroperitoneum
Proximal Extremities
t(12;16)(q13:p11) translocation
FUS-DDIT3 fusion gene
Myxoid most common
Nodular Fasciitis
Location, Mutation (2) Prognosis
Upper extremity
t(17;22)
MYH9-USP6 fusion gene
Spontaneously regresses
Fibromatoses with Complications
Palmar, Plantar, Penile
Palmar: Dupuytren contracture (digit 4/5)
Plantar: in kids, no contracture
Penile: Peyronie Disease, dorsolateral penis
Desmoid Fibromatosis
Mutations (3) Predisposition
APC gene, Beta-catenin genes
Increased WNT signaling
Gardner syndrome (FAP) with APC gene defects
Rhabdomyosarcoma Behavior, Locations (3) Subtype Descriptions Alveolar Genetics (2) Embryonal Morphology (3) Pleomorphic Population (1)
Malignant
Alveolar:
Kids with FOXO1-PAX3/PAX7 fusion gene
Embryonal:
Kids
Rhabdomyoblasts
Sarcoma botyroides in cambium layer
Pleomorphic:
Adult
Locations:
Sinuses
Head and neck
GU tract
Smooth Muscle Tumors
Leimyoma (2) and Leimyosarcoma (3) Descriptions
Leimyoma:
Benign
Fibroids in uterus
Leimyosarcoma:
Malignant, metastasizes to lungs
Starts in extremities and retroperitoneal
Synovial Sarcoma
Genetics (4) Staining Morphology (2) Clinical Features (2)
SS18-SSX1/SSX2/SSX4 fusion genes
(+) for keratins
(+) for epithelial markers
Primary tumors found adjacent to joints
Metastasis to lungs common
