bone and cartilage tumors benign and malignant

Bone and Cartilage tumors Benign and Malignant

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Benign tumors of bone.

OOSTEOMASTEOMA: : iinvolves the skull and facial nvolves the skull and facial bones, w/extremely slow growth ratebones, w/extremely slow growth rate

((HHYPEROSTOSIS FRONTALIS)it mayYPEROSTOSIS FRONTALIS)it may eextends xtends into the orbit or sinuses(Gardner´sinto the orbit or sinuses(Gardner´s

syndromesyndrome)Peak incidence: 40-50 years of age)Peak incidence: 40-50 years of age OOSTEOID OSTEOMASTEOID OSTEOMA::bbenign, painful growth enign, painful growth

of the diaphysis of a long bone of the diaphysis of a long bone ((often the tibia often the tibia or femuror femur))

- - Age : 5-25 years, Age : 5-25 years, mostly mostly malesmales


Benign tumors of bone.

-Symptoms: P-Symptoms: Pain is worse at night andain is worse at night and is is relieved relieved withwith aspirin aspirin

--X rays: X rays: ccentral radiolucency surroundedentral radiolucency surrounded by a by a sclerotic rim.sclerotic rim.

--Micro: Micro: ssmall mall ((< 2 cms< 2 cms)) lesion of the lesion of the cortex cortex with cwith central nidus of osteoid surrounded by entral nidus of osteoid surrounded by dense sclerotic rim of reactive cortical bone.dense sclerotic rim of reactive cortical bone.


Benign tumors.

OOSTEOBLASTOMASTEOBLASTOMA: Similar to an osteoid : Similar to an osteoid osteoma but larger osteoma but larger thanthan 2 cms 2 cms in size in size and and often involvoften involvinging vertebrae. vertebrae.


Benign tumors.

OOSTEOCHONDROMASTEOCHONDROMA (exostosis) (exostosis) --Benign bonBenign bonee metaphyseal grow metaphyseal growtths capped with hs capped with

cartilage that originates from epiphyseal growth cartilage that originates from epiphyseal growth plate.plate.

-It may affects a-It may affects adolescent malesdolescent males as a as a firm, solitary firm, solitary growth agrowth att the ends of long bones. the ends of long bones.

-It-It may be asymptomatic may be asymptomatic or or cause pain, produc cause pain, producinging deformity, deformity, and canand can undergo undergo with with malignant malignant transformation ( raretransformation ( rarelyly) )


Osteochondroma


Benign tumors, Cartilage(cont.)

OOSTEOCHONDROMATOSISSTEOCHONDROMATOSIS ( Multiple ( Multiple hereditaryhereditary exostosis)exostosis)-Characterized with multiple-Characterized with multiple, often symmetric, , often symmetric, osteochondromas.osteochondromas.

EENCHONDROMANCHONDROMA: : bbenign cartilaginous growth enign cartilaginous growth within the medullary cavity of bone, usually within the medullary cavity of bone, usually involving the hands and feet.involving the hands and feet.

-Is a t-Is a typical solitaryypical solitary lesion lesion oftenoften asymptomatic and asymptomatic and require no treatment.require no treatment.


Enchondroma


Benign tumors. Cartilage

MMULTIPLE ENCHONDROMASULTIPLE ENCHONDROMAS (Enchondromatosis)(Enchondromatosis)

OOLLIER DISEASELLIER DISEASE:: a n a non hereditary on hereditary ssyndrome,yndrome,withwith multiple enchondromas in hands multiple enchondromas in hands and feet.and feet.

It may pIt may presents with pain and resents with pain and spontaneous Fxsspontaneous Fxs It mIt may undergo malignant transformation to ay undergo malignant transformation to

chondrosarcoma.chondrosarcoma.


Benign tumors. Cartilage(cont.)

MMAFUCCI SYNDROMEAFUCCI SYNDROME Multiple enchondromasMultiple enchondromas Soft tissue hemangiomasSoft tissue hemangiomas Increased risk of malignant transformation, Increased risk of malignant transformation,

ovarian Caovarian Ca. and . and brain gliomas.brain gliomas.


Maffucci Syndrome


Maffucci Syndrome


http://radiographics.rsnajnls.org/content/vol21/issue5/images/large/g01se30c3a.jpeg

Malignant Tumors of Bone.

OOSTEOSARCOMASTEOSARCOMA ( Osteogenic sarcoma) ( Osteogenic sarcoma)

- - Most common primary malignant tumor of Most common primary malignant tumor of bone bone

--Males> females.Males> females. Most occur in teenagers ( ages Most occur in teenagers ( ages 10-25)10-25)

--Patients with familial retinoblastoma have a high Patients with familial retinoblastoma have a high risk risk

--Clinical features: Clinical features: llocalized pain and swellingocalized pain and swellingwww.freelivedoctor.com

Malignant tumors of bone OSTEOSARCOMA(cont.) Classic X ray findings:Classic X ray findings:

--Codman’s triangle ( periosteal elevation)Codman’s triangle ( periosteal elevation)

--Sunburst patternSunburst pattern

--Bone destructionBone destruction

--Grossly: Grossly: ooften involves the metaphyses of long ften involves the metaphyses of long bonesbones, usually around the knee (distal femur/pro, usually around the knee (distal femur/pro

ximalximal tibia.) tibia.) and it may be seen as a large, firm, and it may be seen as a large, firm,

white mass with necrosis and hemorrhage.white mass with necrosis and hemorrhage.


Malignant Tumors of Bone .Osteosarcoma Micro: Anaplastic cells producing osteoid and Micro: Anaplastic cells producing osteoid and

bone.bone. TTxx: : ssurgeryurgery// chemotherapy chemotherapy Prognosis: Prognosis: ppooroor (h (hematogenous metastastasis to ematogenous metastastasis to

the lungs isthe lungs is a a common common complication) complication) ““SECONDARY”SECONDARY” OSTEOSARCOMASOSTEOSARCOMAS. Occur in . Occur in

elderly persons, associated with Paget’s disease, elderly persons, associated with Paget’s disease, irradiation and chronic osteomyelitisirradiation and chronic osteomyelitis

Highly agressive.Highly agressive.


Osteosarcoma


CHONDROSARCOMA Malignant tumor of Malignant tumor of cartilagecartilage --Males> females age 30-60Males> females age 30-60 -T-Tumor may arise umor may arise primarilyprimarily or secondary to a preexisting or secondary to a preexisting

enchondroma,exostosis or Paget’s disease.enchondroma,exostosis or Paget’s disease. --Clinical presentation:Clinical presentation: progressively progressively eenlarging mass with nlarging mass with

pain and swelling,pain and swelling, that that typically involves the pelvic bones, typically involves the pelvic bones, spine, and shoulder girdle. spine, and shoulder girdle.

--Micro: composed of atypical chondrocytes and Micro: composed of atypical chondrocytes and chondroblasts, often with multiple nuclei in a lacunachondroblasts, often with multiple nuclei in a lacunar r structurestructure


Chondrosarcoma


GIANT CELL BONE TUMOR (Osteoclastoma) Uncommon malignant neoplasm containing multinucleated Uncommon malignant neoplasm containing multinucleated

giant cells admixed with stromal cells. Females>males, giant cells admixed with stromal cells. Females>males, with with agesages between between 20-50 years 20-50 years

Clinical featuresClinical features:: bbulky mass with pain and ulky mass with pain and Fx.Fx. X raysX rays:: eexpanding lytic lession surrounded by a thin rim of xpanding lytic lession surrounded by a thin rim of

bone.bone. It mIt may haveay have also also a soap bubble appearance a soap bubble appearance

Gross: Gross: ooften involves the epiphyses of long bones, usually ften involves the epiphyses of long bones, usually around the knee ( distal femur and proximal tibia) around the knee ( distal femur and proximal tibia) seen a seen a r red brown mass with cystic degeneration.ed brown mass with cystic degeneration.


GIANT CELL TUMOR(cont.)

Micro: Micro: mmultiple osteoclast-like giant cellsultiple osteoclast-like giant cells thatthat are distributed within a background of are distributed within a background of mononuclear stromal cells.mononuclear stromal cells.

TTxx: : ssurgeryurgery// curetage or bloc curetage or blockk resection resection Prognosis: locally aggressive with a high Prognosis: locally aggressive with a high

rate of recurrence.rate of recurrence.


Giant cell tumor


http://www.thachers.org/images/Giant_cell_tumor2.JPG

EWING SARCOMA

Malignant neoplasm of undifferentiated cells Malignant neoplasm of undifferentiated cells arising within the marrow cavity arising within the marrow cavity MMales are affected slightly more often than ales are affected slightly more often than females, most occur in teenagers ( 5-20) females, most occur in teenagers ( 5-20)

Clinical featuresClinical features:: pain , swelling and tenderness pain , swelling and tenderness Classic translocation t11;22 which produces the Classic translocation t11;22 which produces the

EWS- FL11 fusion proteinEWS- FL11 fusion protein XX--rayray:: concentric onion skin layering of new concentric onion skin layering of new

peperriosteal bone.iosteal bone.


Ewing sarcoma


EWING SARCOMA(cont.)

Gross: Gross: ooften affects the diaphyses of long bonesften affects the diaphyses of long bones with with most most common sites common sites likelike femur, pelvis and tibia femur, pelvis and tibia seen a w seen a white tan hite tan mass with necrosis and hemorrhage.mass with necrosis and hemorrhage.

Micro: Micro: ssheets of undifferentiated small round blue cells heets of undifferentiated small round blue cells resembling lymphocytes.resembling lymphocytes.

Characteristic Characteristic HomerHomer-- Wright pseudorosettes Wright pseudorosettes Frequently the tFrequently the tumorumoralal cells erode cortex and periosteum cells erode cortex and periosteum

and invade surrounding tissues.and invade surrounding tissues. Tx.: cTx.: chemotherapy, surgery andhemotherapy, surgery and// or radiation or radiation Prognosis: Prognosis: 5 year survival rate5 year survival rate of of 75% 75%


NEUROMUSCULAR DISORD.

The “motor unit”consists of a lower motor The “motor unit”consists of a lower motor neuron(anterior horn cell or neuron in cranial nerve neuron(anterior horn cell or neuron in cranial nerve nuclei), its axon and the muscle fibers innervated by it. nuclei), its axon and the muscle fibers innervated by it. The number of muscle fibers innervated varies from a The number of muscle fibers innervated varies from a few fibers(oculo-motor muscles) to several few fibers(oculo-motor muscles) to several hundreds(extremity muscles). Muscles fibers of one hundreds(extremity muscles). Muscles fibers of one motor unit are scattered in a wide area in a random motor unit are scattered in a wide area in a random fashion(“checkerdboard”).fashion(“checkerdboard”).

Diseases can be classified as involving: Diseases can be classified as involving: A. Motor neuron B. Peripheral nerves C.Neuro A. Motor neuron B. Peripheral nerves C.Neuro muscular junction D. Muscles muscular junction D. Muscles


NEUROMUSCULAR DIS.(cont)

A. DISEASES OF MOTOR NEURON. A. DISEASES OF MOTOR NEURON. -Etiology of most of the motor neuron dis.(AML, -Etiology of most of the motor neuron dis.(AML, progressive muscular atrophy) is not known, but may progressive muscular atrophy) is not known, but may be caused by several agents: adriamycin, vincristine, be caused by several agents: adriamycin, vincristine, aluminiumaluminiumperikaryon(neuronal cell perikaryon(neuronal cell body) primarily affected w/loss of microtubules body) primarily affected w/loss of microtubules and nuclear displacement + increased cytoplasmic and nuclear displacement + increased cytoplasmic neurofilaments or tangled masses of neurofila- neurofilaments or tangled masses of neurofilaments. Viral infections(Polyomyelitis, Herpes ments. Viral infections(Polyomyelitis, Herpes encephalitis, Varicella-zoster) may also affect the encephalitis, Varicella-zoster) may also affect the motor neuron or sensory ganglia. motor neuron or sensory ganglia.



B. DISEASES OF PERIPHERAL NERVES B. DISEASES OF PERIPHERAL NERVES I. Axonal degeneration(axonal neuropathy) a. I. Axonal degeneration(axonal neuropathy) a. Wallerian degeneration(crush/cut along a myelinated fiber) Wallerian degeneration(crush/cut along a myelinated fiber) b. Axonal b. Axonal degeneration caused by other diseases degeneration caused by other diseases (less axoplasm leakage+ more inflammation + (less axoplasm leakage+ more inflammation + chronic evolution): chronic evolution): 1.Proximal axonal degeneration: intoxic. w/ 1.Proximal axonal degeneration: intoxic. w/ IDPN(BB-Iminodipropionitrite) IDPN(BB-Iminodipropionitrite)shrinkage of distal shrinkage of distal axons due to focal proximal blockage. axons due to focal proximal blockage. 2.Distal axonal degeneration: 2.Distal axonal degeneration: earliest changes occur in the most distal portion earliest changes occur in the most distal portion of axons of axons



DISEASES OF PERIPHERAL...(cont.) DISEASES OF PERIPHERAL...(cont.) Many diseases w/earlier changes in the most distal portion of Many diseases w/earlier changes in the most distal portion of axonsaxonsslow spread to proximal structuresslow spread to proximal structuresperikaryon perikaryon cannot support the terminal axon, vgr.: cannot support the terminal axon, vgr.: --Hereditary neuropathies. --Hereditary neuropathies. -HSMN I (Charcot-Marie- -HSMN I (Charcot-Marie-Tooth)disease, the MOST common of these, inherited as Tooth)disease, the MOST common of these, inherited as autosomal- dominant is usually present autosomal- dominant is usually present in childhood/early adulthood(PMP 22 in childhood/early adulthood(PMP 22 gene/17p11.2-p12 locus), characterized by progressive atrophy gene/17p11.2-p12 locus), characterized by progressive atrophy of leg muscles,foot drop/deformed feet of leg muscles,foot drop/deformed feet w/less sensory defect w/less sensory defect



DISEASES OF PERIPHERAL...(cont.) --DISEASES OF PERIPHERAL...(cont.) --Hereditary neuropathies... -Hereditary neuropathies... -HSMN II(CMT2A) also AD, with similar manifestations HSMN II(CMT2A) also AD, with similar manifestations than CMT I but without nerve enlargement and than CMT I but without nerve enlargement and presentation at a later age. Linked to chromosome presentation at a later age. Linked to chromosome 1p35-p36. -HSMN III(Dejerine-Sottas 1p35-p36. -HSMN III(Dejerine-Sottas disease) is an AR condition that begins slowly in early disease) is an AR condition that begins slowly in early childhood w/delayed acquisition of motor skills and childhood w/delayed acquisition of motor skills and involvement of muscles of limbs and trunkinvolvement of muscles of limbs and trunkenlar enlar gement of nerves easy to detect. Genetic gement of nerves easy to detect. Genetic heteroge nicity(PMP 22, MPZ, PRX and heteroge nicity(PMP 22, MPZ, PRX and EGR2).EGR2).



DISEASES OF PERIPHERAL...(cont.) DISEASES OF PERIPHERAL...(cont.) --Acquired metabolic/toxic neuropathies. --Acquired metabolic/toxic neuropathies. -Diabetic peripheral neuropathy: w/symme -Diabetic peripheral neuropathy: w/symme tric neuropathy involving distal sensory/mo tric neuropathy involving distal sensory/mo tor nerves + dysfunction of autonomic tor nerves + dysfunction of autonomic nervous system(20-40% of cases).It can also present as nervous system(20-40% of cases).It can also present as a single peripheral or cranial a single peripheral or cranial neuroneuropathy(oculomotor nerve). neuroneuropathy(oculomotor nerve). -Metabolic/nutritional: chronic liver disease,resp. -Metabolic/nutritional: chronic liver disease,resp. insuff., renal failure, thiamine def.,Vit.B12,B6,E. insuff., renal failure, thiamine def.,Vit.B12,B6,E. Chronic alcoholism, etc. Chronic alcoholism, etc.


STRIATED MUSCLE DISORDERS (Dystrophies, Myositis and Tumors) INFLAMMATORY DISORDERS.INFLAMMATORY DISORDERS. PPOLYMYOSITISOLYMYOSITIS:: It may affect aIt may affect adults, femalesdults, females with with bilateral bilateral

progressive,progressive, proximal muscle weakness proximal muscle weakness Micro: Micro: eendomysial lymphocytic ndomysial lymphocytic

inflammation inflammation ((mostly cytotoxic T8mostly cytotoxic T8)) Skeletal muscle fiber degeneration and Skeletal muscle fiber degeneration and

regeneration.regeneration.


DERMATOMYOSITIS.

It may affect cIt may affect children or adults, females,hildren or adults, females,withwith bilateral bilateral and and proximal muscle weaknessproximal muscle weakness

Also: sAlso: skin rash of the upper eyelids , periorbital edemakin rash of the upper eyelids , periorbital edema Micro: Micro: pperimysial and vascular lymphocytic inflammationerimysial and vascular lymphocytic inflammation

with pwith perifascicular fiber atrophy erifascicular fiber atrophy Skeletal muscle fiber degeneration and regeneration.Skeletal muscle fiber degeneration and regeneration. Increased risk of lung, stomach, ovarian and breast Increased risk of lung, stomach, ovarian and breast

cancers.cancers.


Dermatomyositis


MUSCULAR DYSTROPHIES DUCHENNE MUSCULAR DYSTROPHYDUCHENNE MUSCULAR DYSTROPHY MOST COMMONMOST COMMON and severe form of muscular dystrophy. and severe form of muscular dystrophy. X linked inheritanceX linked inheritance Dystrophin gene in Xp 21Dystrophin gene in Xp 21 ((Mutation results in a virtual absence of dystrophin proteinMutation results in a virtual absence of dystrophin protein)) Normal at birth with onset of symptoms by age 5 , Normal at birth with onset of symptoms by age 5 , with with progressive muscular weaknessprogressive muscular weakness

of of proximal proximal ,,shoulder and pelvic girdles. shoulder and pelvic girdles. CCALF PSEUDOHYPERTROPHYALF PSEUDOHYPERTROPHY Heart failure and arrhytmias may occurHeart failure and arrhytmias may occur Progressive rProgressive respiratory espiratory failurefailure and pulmonary infections and pulmonary infections IncreasedIncreased serum creatine kinase serum creatine kinase Muscle fibers of various sizes , necrosis, degeneration and regeneration fibersMuscle fibers of various sizes , necrosis, degeneration and regeneration fibers FibrosisFibrosis Fatty infiltration.Fatty infiltration.


Duchenne muscular dystrophy

DDxx: : mmuscle biopsyuscle biopsy with with immunostains immunostains showshowss decreased dystrophin protein decreased dystrophin protein

DNA analysis by PCR.DNA analysis by PCR.


Duchenne muscular dystrophy


BECKER MUSCULAR DISTROPHY It is a lessIt is a less common common condition condition The observed mThe observed mutation produces an altered utation produces an altered

dystrophin proteindystrophin protein Later onset with variable progressionLater onset with variable progression Cardiac involvCardiac involveement is rarement is rarely seenly seen Patients have a rPatients have a relatively normal life spanelatively normal life span


MUSCULARY DISTROPHY(cont.) --Inclusion body myositis.Inclusion body myositis.

--Myasthenic SyndromesMyasthenic Syndromes

--Inflammatory Neuropathies.Inflammatory Neuropathies.


SOFT TISSUE TUMORS.

Adipose tissue.: Lipomas –LiposarcomasAdipose tissue.: Lipomas –Liposarcomas FibrosarcomaFibrosarcoma Rhabdomyoma , rhabdomyosarcomaRhabdomyoma , rhabdomyosarcoma Smooth muscleSmooth muscle Vascular tumorsVascular tumors Peripheral nerve tumors.Peripheral nerve tumors.


SOFT TISSUE TUMORS

RHABDOMYOSARCOMA (cont.)RHABDOMYOSARCOMA (cont.) Dx: Dx:

-Excisional biopsy -Excisional biopsy -Immunochemistry -Immunochemistry +vimentin +vimentin +desmin +desmin +actin +actin +myoglobin+myoglobin


SOFT TISSUE TUMORS

SMOOTH MUSCLE TUMORS. SMOOTH MUSCLE TUMORS. 1. Leiomyoma 1. Leiomyoma 2. Leiomyosarcoma2. Leiomyosarcoma

VASCULAR TUMORS VASCULAR TUMORS 1. Hemangiomas 1. Hemangiomas 2. Angiosarcomas2. Angiosarcomas

SYNOVIALSARCOMASYNOVIALSARCOMA


bone and cartilage tumors benign and malignant

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distal portion

motor neuron

malignant tumors

hereditary neuropathies

malignant transformation

benign tumors

ften involves

neuromuscular disord