Chaper 12: Soft tissue tumors Flashcards

Question

Neurofibromatosis (von Reclinghausen’s disease of the skin)

Answer 1

-‐ NF1: 50% AD, 50% new mutation (NF1 gene on chr. 17, neurofibromin protein) -‐ Elephantiasis neuromatosa: large baggy neurofibromas -‐ Plexiform neurofibroma: “bag of worms”, pathgnomonic for NF1 (esp in trunk) -‐ NF Dx: café-‐au-‐lait (6+), axillary freckling (Crowe’s sign), brown pigmented spots on the iris (Lisch nodules), optic glioma -‐ Oral: most common finding-‐ enlargement of fillifom papilla; 25% oral NF -‐ NF1 assoc with Noonan syndrome and CGCG. HT most common problem. Can mimic hemifacial hyperplasia (macroglossia) -‐ NF1: 5% NF transform in MPNST. Others: RMS, leukemia, pheochromocytoma and Wilm’s tumor -‐ Elephant man (Joseph Merrick): Proteus syndrome (hamartomatous condition, PTEN mut)

Answer 2

neuroma > schwannoma, NF > ancient schwannoma > plexiform NF

Answer 3

-‐ Average age a dx 6y; most common in mediastinum -‐ GI polypoid GN assoc w/ Cowden, tuberous sclerosis, juvenile polyposis, NF1 and MEN2B -‐ Histo: scattered clusters of ganglion cells scattered in a background of Schwann cells bundles -‐ Ganglion cells: large pink cytoplasm and 1-‐3 nuclei

Answer 4

-‐ Rare, adult, finger/hand -- Distinctively compartmentalized, due to prominent septa of fibrous tissue forming lobules -‐ Each lobule consists of cells and myxoid stroma (hyaluronic acid or sulfated acid) -‐ Cellular neurothekeoma: cellular, nuclear atypia, mitosis, extension into fat, muscle or vessels -‐ **DDx: focal mucinosis and myxoid neurofibroma (lobulation is key difference)** -‐ IHC: S100 and PGP9.5 +

Answer 5

-‐ Tumors where vast majority of cells show perineurial differentiation -‐ Forms: intraneural, extraneural (soft tissue), sclerosing and reticular -‐ Intraneural: formation of tiny “onion bulbs” (EMA+, S100+) -‐ ST: ~ BFH or myxoid NF (EMA+, S100 –ve)

Answer 6

-‐ Rare mesenchymal neoplasm first described by Enzinger in 1989. -‐ Possible neuroectodermal origin -‐ Approximately 70% of cases arise in the extremities -‐ HIsto: lobules of uniform, round to fusiform-‐shaped cells in nests and cords, set in a fibromyxoid stroma, and surrounded by an incomplete shell of metaplastic (hypocellular) lamellar bone -‐ IHC: vimentin and S-‐100 protein + (70%). Also desmin positivity, Leu-‐7, NSE, GFAP and SMA+

Answer 7

-‐ Most tongue then cheek. Rarely parotid. Can be multiple (in blacks pts) -‐ S100+ (supportive of schwan cell origin-‐ “granular cell schwannoma”) -‐ NK1C3+, CD68+, Leu7+, NSE+, MBP+, GFAP neg, neurofilament neg

Answer 8

-‐ Likely myofibroblastic in origin -‐ 10% multiple. 90% females. MX>MD. On alveolar ridge (rarely on tongue also) -‐ Never has PEH. S100-‐ (vs GCT); KP-‐1+, vimentin+

Answer 9

-‐ Arises from ectopic arachnoid lining cells -‐ Type 1: Congenital. Skin of the scalp, forehead and paravertebral. Abnormal neural tube closure. -‐ Intermediate between meningocele and meningioma (aka meningeal hamartoma) -‐ Type 2: adults. Close to sensory organs (eye, ear, nose). -‐ Syncitial pattern, swirling whorled balls of cells, collagenous septa, psammoma bodies. CK+

Answer 10

-‐ Congenital displacement of neuroglial tissue (variant of encephalocele) -‐ 60% subcutaneous tissue of nose, 30% nasal cavity -‐ Polypoid mass in nose of infant, grows with infant -‐ If in mouth: glial choristoma -‐ Histo: mats of glial tissue, with astrocytes; sneuronal elements absent. -‐ IHC: glial fibrillary acidic protein (GFAP) and S100+

Answer 11

-‐ Similar to glial heterotopia, but maintains connection with CNS via defect in cribiform plate -‐ If in nose, virtually indistinguishable from glial heteropia -‐ Histo: mixture of astrocytes, glial fibers andneuronal elements

Answer 12

-‐ MEN1 (Werner syndrome): 3Ps (benign tumors of parathyroid, pancreas, and pituitary tumors) -‐ MEN2A (Sipple syndrome): Pheochromocytoma and medullary thyroid ca. -‐ MEN2B: Pheo (50%), medullary thyroid ca. (90%) and mucosal neuromas. RET mutation (chr 10) -‐ MEN2B: protuberant lips in narrow face, eversion of eyelids. -‐ Neuromas: lips, anterior tongue, bilaterally on commissures -‐ Marfanoid body: thin long limbs and muscle wasting -‐ Increased serum or urinary calcitonin (if med thyr ca is present) -‐ Pheo:  vanillylmandelic acid and epi/norepinephrine ratio (also in MNET and neuroblastoma)

Answer 13

-‐ Aka pigmented ameloblastoma, retinal anlage tumor and melanotic prognoma (no longer used) -‐ Neural crest origin; < 1y, MX, M>F; sunray pattern on xray -‐ Biphasic (NSE and CD56+ small round cells, CK+ epitheliod cells) -‐ Elevated levels of vanillylmandelic acid (also seen in pheo.)

Answer 14

-‐ Paraganglia: chemoreceptors that detect changes in blood pH and O2 tension -‐ Neural crest origin. May arise as a response to hypoxia (more in females at higher altitutes) -‐ Deep mass below angle of MD with pharyngeal swelling -‐ Fontaine’s sign: lesion moved side to side, but no vertical movement -‐ 10% multifocal, 10% familial history (genomic impriting), 10% metastasize -‐ Chief cells (type 1) and sustentacular cells (type 2) organized in zellballen, highly vascular -‐ Carney’s triad: extra-‐adrenal paraganglioma, gastric leiomyosarcoma and pulmonary condroma -‐ Chief cell: synaptophysin, chromogranin and NSE+; sustentacular cell S100 + -‐ Malignant: if metastasis is present

Answer 15

-‐ Paraganglia of auricular branch of vagal nerve or tympanic branch of glossopharyngeal nerve -‐ Develop in temporal bone and middle ear -‐ Glomus jugulare: when arising from the jugular bulb -‐ Glomus tympanicum: involving the middle ear (most common neoplasm of this region)

Answer 16

-‐ Develop as high cervical masses between mastoid process and angle of the jaw -‐ Lie above the carotid bifurcation, w/o widening of the bifurcation point

Answer 17

-‐ Glomus body: regulates temperature and is an AV shunt -‐ Sucquet-‐Hoyer canal: arterial segment of the glomus body -‐ Varying proportions of glomus cells, blood vessels and smooth muscle -‐ Papulonodular lesions, red/pink/blue, extremely painful. -‐ Acral distribution (hand, foot and forearm) - Types: solid, glomangioma, glomangiomyoma (60%), infiltrating and glomangiosarcoma - Glomangioma: Cookie-‐cutter cells (prominent cell borders); round, centrally placed, almost neuroendocrine-‐like; cells surround vascular “lakes” - Glomangiomyoma: SMC near vascular spaces and bleding with glomus cells

Answer 18

-‐ Arise during first 8 wks, involutes -‐ Vascular malformation: present at birth, no involution -‐ Hemangioma: most common tumor of infancy, more in females (5:1), 60% HN -‐ PHACES syndrome: Posterior fossa brain anomaly (Dandy-‐Walker), Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies, and Sternal cleft/supraumbilical raphae -‐ Kasabach-‐Merritt phenomenom: thrombocytopenia and hemorrhage due to platelets being trapped in tufted hemangioma and kaposiform hemangioendothelioma -‐ Intrabony hemangioma: bruit or pulsation may be present. ML or UL RL or sunburst -‐ Histology: juvenile or cellular (aka juvenile hemangioendothelioma); capillary; cavernous -‐ Juvenile hemangioendothelioma is the most common SG tumor of infants -‐ GLUT1: positive in hemangioma of infancy, but negative in vascular malformations

Answer 19

-‐ Reactive pseudoneoplastic proliferation of endothelial cells associated with thrombosis -‐ Histo: dilated vascular channels containing endothelial-‐lined papillary fronds and stroma

Answer 20

-‐ Port wine stain (nevus flammeus), leptomeningeal angiomas, seizures and mental retardation -‐ Gingiva may become hyperplastic or with PG (from vascular component or use of phenytoin) -‐ Tramline calcifications on skull film

Answer 21

-‐ Multiple facial hemangiomas, vascular masses w/ enlargement of extremities, ocular disorders -‐ Premature tooth eruption and bony overgrowth may cause malocclusion -‐ Ddx: Sturge-‐Weber and Maffucci syndromes

Answer 22

-‐ Exclusive in young males (10-‐17y). Arises in pterigopalatine fossa -‐ Imaging: anterior bowing of posterior wall of mx sinus - Hollmann-Miller sign - Angiogram useful.

Answer 23

-‐ 75% cheek; common on pleura -‐ HPC: Tighly packed cells that surround staghorn vessels -‐ Spindle cells in short fascicles or in “patternless pattern”. -‐ Alternating hyper/hypo cellular zones (latter contains prominent hyalinized collagen bundles) -‐ Bands of dense collagen separate individual cells -‐ Myxoid, bluish background around islands of pleomorphic, bland cells -‐ HPC-‐like areas with stag-‐horns -‐ CD34+, CD99+, bcl-‐2+, SMA –ve

Answer 24

-‐ Distinct entity from soft tissue hemangiopericytoma -‐ Monomorphic spindle to ovoid cells with lightly eosinophilic cytoplasm and bland nuclei forming short fasciles or a storiform, whorled or palisated pattern. -‐ Tumor cells aggregate around staghorn vessels

Answer 25

-‐ Family of tumors derived from perivascular epitheliod cells -‐ Includes: renal angiomyolipoma, lymphangiomyomatosis and clear cell “sugar” tumor of lung -‐ Associated with tuberous sclerosis complex -‐ Express melanocytic and muscle markers. Can look like a granular cell tumor. -‐ Lymphangiomyomatosis seen exclusively in women of child-‐bearing age

Answer 26

-‐ Simplex (capillary), cavernous and cystic (cystic hygroma). 50-‐75% HN; 90% < 2yo -‐ Cystic: most in post triangle of neck. Ant lesions more complications. -‐ Oral: ant 2/3 tongue (frog eggs or tapioca pudding). -‐ 4% of black neonates have small lesions of the alveolar ridge

Answer 27

-‐ Most in uterus, GI tract and skin. -‐ Histo: solid, angioleiomyoma, and epithelioid leiomyoma (leiomyoblastoma) -‐ Masson trichrome stains muscle red. SMA+ MSA+

Answer 28

-‐ Adult (pharynx, larynx, mouth-‐FOM, soft palate, base of tongue) and fetal (face, periauricular) -‐ Adult: spider-‐web appearance (peripheral vacuoles with filaments) -‐ Fetal: haphazard spindle cells (muscle-‐looking) within a myxoid stroma -‐ IHC: myoglobin+, desmin+, MSA+, PTAH+ (myofibrils stain purple)

Answer 29

-‐ Choristoma: normal tissue in abnormal location; Hamartoma: excess tissue in normal location -‐ 85% posterior tongue, 70% women

Answer 30

-‐ Always on anterior tongue -‐ Well defined multilobulated. Spindle to round cells in a myxoid or chondroid backgound. GFAP+

Answer 31

-‐ Chronic inflammatory disorder of unknown cause -‐ Multiple, firm, red-‐purple, dome-‐shaped, coalescing/linearly arranged papules on skin of limbs -‐ Histo: proliferation of small blood vessels with unusual dendritic cells and multinucleate cells -‐ IHC: EC-‐ Factor VIII-‐RA, CD34, CD31+; DC-‐ Factor XIIIa, lysozyme, α1-‐antichymotrypsin, vimentin, CD68; giant cells-‐ vimentin only

Answer 32

-‐ Most in deep soft tissues of the lower extremities, especially thigh and knee -‐ Herring-‐bone pattern: fascicles of spindle cells -‐ DDx: especially monophasic synovial sarcoma, MPNST and MDH

Answer 33

-‐ Either congenital or within first year of life -‐ Histo: identical to adult fibrosarcoma, but HPC-‐like growth pattern more prominent -‐ 12;15 genetic translocation (producing ETV6-‐NTRK3 fusion protein)

Answer 34

-‐ Translocation 17;22 (Col11A1-‐PDGF fusion and increase in PDGF chain) -‐ Old fashion bathing suit distribution -‐ Histo: monotonous haphazard storiform arrangement of spindle and stellate cells that infiltrates and entraps adnexa and adipose. Low mitoses -‐ IHC: CD34+; factor XIIIa neg (vs. BFH, CD34 neg, XIIIa +) -‐ Bednar’s tumor: pigmented DFSP -‐ Giant cell fibroblastoma: juvenile form of DFSP

Answer 35

-‐ Most common in older patients -‐ Storiform pattern

Answer 36

-‐ Most common STS (20% of all malignancies in adults) -‐ Most in thigh, retroperitoneoum and inguinal. -‐ Types: WD/ALT (most common in oral cavity); myxoid/round cell; pleomorphic; dedifferentiated -‐ Pleomorphic worse prognosis

Answer 37

-‐ 50% in pts with NF1. -‐ Proximal extremities and trunk. -‐ X-‐ray: widening of MD canal or mental foramen -‐ Malignant Triton tumor: MPSNT + malignant skeletal muscle -‐ Pts with MPNST and NF1 are 10y younger (35 vs 45) and worse prognosis than w/o NF1 -‐ Low-‐power: distinctive perivascular tumor cells surrounded by necrosis -‐ IHC: S100 in only 50% of cases

Answer 38

-‐ Most in scalp and forehead (early lesion resembles a bruise) -‐ Hemangioendothelioma: intermediate between hemangioma and angiosarcoma -‐ IHC: CD31+, factor VIII+, CD34 less consistent -‐ Associated with the environmental carcinogen vinyl chloride (PVC) -‐ Stewart-‐Treves sydrome: angiosarc assoc w/ chronic lymphedema -‐ Radiation also risk factor -‐> increased incidence in women with hx breast cancer -‐ Better prognosis for oral and SG tumors

Answer 39

-‐ Classic, endemic (benign, aggressive, flord, lymphadenopathic), iatrogenic and AIDS-‐related. -‐ Stages: Patch, plaque, and nodule. -‐ Promontory sign: normal structures admixed with tumor proliferation (patch stage)

Answer 40

-‐ Most in uterine wall and GI tract. -‐ Epithelioid leiomyosarcoma: composed entirely of rounded cells -‐ Some associated with RBI mutation -‐ PAS shows glycogen within the cells. Cell cytoplasm red on Masson trichrome -‐ MSA (HHF35)+, SMA+, desmin+, H-‐Caldesmon+, smooth muscle myosin (SMMS)+

Answer 41

-‐ 60% of STS in children -‐ Embryonal (NOS, botryoid, spindle), alveolar, undifferentiated and anaplastic -‐ Age: embryonal (<10y), alveolar (10-‐25y) and pleomorphic (>40y) -‐ HN (face/orbit) and GU tract. Oral RMS: palate and max sinus. Most common sarcoma children. -‐ Embryonal: round, spindle and strap cells -‐ Rhabdomyoblasts: small cells with dark nuclei and deeply pink cytoplasm -‐ Botryoid: lesions that arise in cavity (mouth, vagina) with exophytic, polypoid growth -‐ Cambium layers: zone of increased cellularity just below mucosa (botryoid RMS) -‐ Alveolar: PAX3-‐FKHR and PAX7-‐FKHR translocation -‐ Embryonal: 11p15 LOH -‐ Myogenin, MyoD1, HHF-‐35 +

Answer 42

-‐ X;17 translocation (ASPL-‐TFE3 fusion protein generated). -‐ Young pts: orbit and tongue, more females. Adults: lower extremities, more in males -‐ Discohesive cells in nests, minimal atypia, vascular invasion -‐ IHC: TFE3+ (only marker) -‐ Crystals: aggregates of the MCT1 protein and its chaperone, CD147. -‐ Crystals are PAS+, diastase resistant (on EM: latticework pattern)

Answer 43

-‐ X;18 translocation (SYT gene chr 18 and SSX1/SSX2 on gene X) -‐ SYT/SSX fusion mRNA can be detected by RT-‐PCR or FISH -‐ Most near large joints and bursae of extremities. HN: paravertebral and parapharyngeal mass -‐ Classically biphasic (spindle cells ~ fibrosarcoma + epith cells surrounding glandlike spaces or forming nests, cords or whorls). “slit-‐oma”. Calcifications in 30%. Stag-‐horn vessels. -‐ CK+, EMA+, CD99+

Answer 44

-‐ Arises from dendritic cells (antigen-‐presenting cells) of the immune system -‐ Predilection for LN of the neck, axilla and mediastinum -‐ Histo: syncitial-‐appearing spindly cell that form fascicles or whorls -‐ CD21, CD35+

Answer 45

-‐ Composed of small, undifferentiated round cells (prob neuroectodermal) -‐ Usually whites < 20 yo, MD. Fever, increased ESR, leukocytosis (similar to osteomyelitis) -‐ 11;22 translocation. CD99+ (MIC2 gene product). FISH against the translocation more specific. -‐ Long bones have “onionskin” (seldom seen in jaws) -‐ Large cell (atypical) Ewing sarcoma: composed mostly of larger cells -‐ Histo: -‐ 75% contain glycogen granules in cytoplasm -‐ Pelvic lesions and proximal lesions have poorer prognosis

Answer 46

-‐ Gingiva (~PG) (50%) and tongue (25%) -‐ Batson’s plexus: implicated in metastases to the jaws that bypass filtration through the lung -‐ Men: lung, renal, melanoma (prostate goes to bone) -‐ Women: breast (IHC: PR, ER+), genital, lung, bone, kidney