Neoplasms & Genetic Mutations

Question 1

Neoplasm associated with: t(11;22)

Answer 1

EWING’S Sarcoma

translocation

Question 2

Neoplasm associated with: t(2;13)

Answer 2

RHABDOMYOsarcoma

translocation

Question 3

Neoplasm associated with: t(12;16)

Answer 3

MYXOID LIPOsarcoma

translocation

Question 4

Neoplasm associated with: t(X;18)

Answer 4

SYNOVIAL Sarcoma

translocation

Question 5

Neoplasm associated with: t(12;22)

Answer 5

CLEAR CELL Sarcoma

translocation

Question 6

Neoplasm associated with: t(9;22)

Answer 6

MYXOID CHONDROsarcoma

translocation

Question 7

Neoplasm associated with: (+) CD38+

Answer 7

Multiple Myeloma

histologic marker

Question 8

Neoplasm associated with: (+) CD31

Answer 8

ANGIOsarcoma

histologic marker

Question 9

Neoplasm associated with: (+) CD1a

Answer 9

EG (Eosinophilic Granulomatosis)

histologic marker

Question 10

Neoplasm associated with: (+) S-100

Answer 10

histologic marker associated with NERVE SHEATH tumors

Question 11

Tumors that commonly metastasize to LYMPH NODES

Answer 11

S - Synovial
C - Clear cell
A - Angiosarcoma
R - Rhabdomyosarcoma
E - Epithelial

Question 12

Neoplasm associated with: (+) GNAS

Answer 12

Fibrous Dysplasia

histologic marker

Question 13

Neoplasm associated with: H3F3A gene mutation

Answer 13

Giant Cell Tumor

gene mutation

Question 14

Giant Cell has a higher chance of metastasizing to the _____

Answer 14

lungs

Question 15

MHE is associated with loss of which gene?

Answer 15

Indian HedgeHog (IHH)

Question 16

Neoplasm associated with: EXT1 gene mutation

Answer 16

Multiple Hereditary Exostoses (MHE)

gene mutation

Question 17

Why is DENOSUMAB used to treat GIANT CELL?

Answer 17

The neoplastic cells (mononuclear fibrous stromal cells) make RANKL, and Denosumab inhibits RANKL.

Question 18

What is the difference in bone formation between HETEROTOPIC OSSIFICATION vs METASTASIS?

Answer 18

HO has PERIPHERAL bone formation

Mets have CENTRAL bone formation

Question 19

Extra-abdominal Desmoid Tumors are associated with what other neoplastic diagnosis?

Answer 19

Familial Adenomatosis Polyposis

Question 20

Familial Adenomatosis Polyposis is associated with which MSK neoplasm?

Answer 20

extra-abdominal DESMOID tumors

Question 21

Disease associated with: FGF23 gene mutation

Answer 21

Familial HYPERPHOSphatemic tumoral CALCINOSIS 
gene mutation (fibroblast growth factor 23)

Question 22

Disease associated with: IDH1 or IDH 2 gene mutation (isocitrate dehydrogenase)

Answer 22

MAFFUCCI syndrome – multiple enchondromas, hemangiomas, and soft tissue phleboliths
gene mutation

Question 23

Neoplasm associated with stains (+) cytokeratin and (+) epithelial membrane antigen

Answer 23

SYNOVIAL CELL sarcoma

histologic (+) stains

Question 24

Neoplasm associated with: fusion protein gene SYT-SSX

Answer 24

SYNOVIAL CELL sarcoma

fusion protein gene

Question 25

Neoplasm associated with: fusion protein gene EWS-FLI

Answer 25

EWING sarcoma | fusion protein gene

Question 26

Neoplasm associated with: fusion protein gene TLS-CHOP

Answer 26

MYXOID LIPOsarcoma | fusion protein gene

Question 27

Neoplasm associated with: fusion protein gene PAX-FOXO1

Answer 27

ALVEOLAR RHABDOMYOsarcoma | fusion protein gene

Question 28

Inheritance pattern for: NEUROFIBROMATOSIS type 1

Answer 28

autosomal DOMINANT

Question 29

What does the abbreviation MDM2 stand for?

Answer 29

Murine Double Minute 2 -- oncogene on chromosome 12

Question 30

Common benign tumor found in posterior neck region, upper back, and shoulders

Answer 30

SPINDLE cell LIPOma

Question 31

Atraumatic vertebra plana in a young child is most likely due to _____

Answer 31

Langerhans Cell Histiocytosis

Question 32

Which syndromes are associated with RADIAL LONGITUDINAL DEFICIENCY?

Answer 32

1) Holt-Oram (no radius + ASD <3) 2) Thrombocytopenia-Absent-Radius Syndrome 3) VACTERL Association 4) Fanconi Anemia

Question 33

What is VACTERL Association?

Answer 33

``` V - Vertebral anomalies A - Anorectal malformations C - Cardiovasc anomalies T - Tracheo-esophageal fistula E - Esophageal atresia R - Renal or RADIAL anomalies L - Limb defects ```

Question 34

What syndrome is associated with SYMBRACHYDACTYLY?

Answer 34

Poland Syndrome -- proximal limb hypoplasia, ipsilateral pec major deficiency, chest wall deformities

Question 35

Associated with Arginine to Glycine substitution on FGF-3

Answer 35

Achondroplasia

Question 36

Presents with clavicle hypoplasia + coxa vara + widened symphysis pubis

Answer 36

Cleido-Cranial Dysostosis (CBFA1)

Question 37

Diagnosis associated with: COL1A1/A2 gene mutation

Answer 37

Osteogenesis Imperfecta, type I collagen mutation

Question 38

Diagnosis associated with: COL5A1/A2 gene mutation

Answer 38

Ehler-Danlos Syndrome

Question 39

Diagnosis associated with: PHEX gene mutation

Answer 39

X-Linked HYPOphosphatemia

Question 40

Increased levels of FGF-23 are associated with which 2 metabolic bone disorders?

Answer 40

1 - X-linked Hypophosphatemic Rickets | 2 - Osteogenic osteomalacia (aka tumor-induced osteomalacia) >> leads to paraneoplastic renal phosphate wasting

Question 41

Role of MDM2 amplification

Answer 41

1) Distinguish well differentiated liposarcoma (positive, FISH 90% sensitive) from benign adipose tumors (negative) 2) Distinguish dedifferentiated liposarcoma (positive) from poorly differentiated sarcomas (negative) 3) Distinguish low grade osteosarcoma (positive) from benign fibrous/fibro-osseous lesions (negative)

Question 42

t(11;14)(q13;q32)

Answer 42

poor prognosticator in multiple myeloma.