Porphyrias and Sarcomas

Question 1

Symptoms of acute intermittent porphyria

Answer 1

Abdominal pain most common

Neuro and visceral symptoms

No cutaneous manifestations

Question 2

These sarcomas are described as indolent (slow progressing, low metastasis potential)

Answer 2

• Chondrosarcoma
• Kaposi sarcoma

Question 3

How to test porphyrin levels?

Answer 3

Plasma or urine samples

Question 4

Environmental exposures that can increase risk for these three sarcomas:
- Osteosarcoma
- Mesothelioma
- Angiosarcoma

Answer 4

• Radiation (osteosarcoma)
• Asbestos (mesothelioma)
• PVC, arsenic (angiosarcoma)

Question 5

Which sarcoma is mostly seen in older adults?

Answer 5

Chondrosarcoma

Question 6

Variegate porphyria symptoms

Answer 6

Neurovisceral symptoms and photosensitivity

Question 7

Ewing sarcoma symptoms

Answer 7

Pain in bones that continues through night/doesn’t get better with rest

Systemic symptoms (fever, malaise)

Question 8

These two diseases are risk factors for osteosarcoma

Answer 8

Retinoblastoma and Paget’s disease

Question 9

Inheritance pattern of acute intermittent porphyria

Answer 9

Autosomal dominant

Question 10

Osteosarcoma appearance on xray

Answer 10

• Sunburst appearance
• Cancer in bone and surrounding tissue

Question 11

Diagnosis imaging for Ewing sarcoma

Answer 11

Xray
- poorly marginated destructive lesion with a moth-eaten or onion skin appearance

Question 12

Sarcomas are cancers of the …

Answer 12

“Flesh” = Bones and soft tissues

Question 13

Patients with this porphyria have an increased risk of hepatocellular carcinoma

Answer 13

Porphyria cutanea tarda

Question 14

Most common porphyria

Answer 14

Porphyria cutanea tarda

Question 15

This sarcoma is associated with HHV-8

Answer 15

Kaposi sarcoma

Question 16

Most common sarcoma of bones

Answer 16

Osteosarcoma

Question 17

Clinical manifestations of sarcomas of soft tissue

Answer 17

Painless mass on extremity or trunk without history of injury

Question 18

Kaposi sarcoma is most common in these patients

Answer 18

Immunosuppressed (HIV/AIDS)

Question 19

Are sarcomas more common in young or old people?

Answer 19

More common in kids

Question 20

Congenital erythropoietic porphyria treatments

Answer 20

• Avoid sunlight, use sunscreen
• Beta-carotene
• RBC transfusions
• Bone marrow transplant

Question 21

Average age for patients to present with Ewing sarcoma

Answer 21

10-20 years old

Question 22

Porphyria cutanea tarda is associated with this metabolic disorder

Answer 22

Hemochromatosis

Question 23

Which porphyria is not inherited?

Answer 23

Porphyria cutanea tarda

Question 24

Porphyria cutanea tarda symptoms

Answer 24

Mostly a blistering skin condition
- vesicles on sun exposed area of the skin

Question 25

Treatments for porphyria cutanea tarda

Answer 25

- Abstinence from alcohol - already flooded with iron - Phlebotomy to remove iron from blood

Question 26

Are systemic symptoms more common in Ewing sarcoma or osteosarcoma?

Answer 26

Ewing sarcoma - systemic symptoms generally *absent* in osteosarcoma

Question 27

Symptoms of congenital erythropoietic porphyria

Answer 27

- Pink to dark-brown staining of diapers - Photosensitivity - Erythrodontia - red fluorescent teeth under UV light

Question 28

Ewing sarcoma most commonly shows up in these bones

Answer 28

- Long bones of the extremities (femur, humerus, tibia) - Flat bones of the pelvis (ileum)

Question 29

Risk of osteosarcoma in higher in children with a history of this other cancer

Answer 29

Retinoblastoma (no red reflex)

Question 30

Inheritance pattern of congenital erythropoietic porphyria

Answer 30

Autosomal recessive

Question 31

Treatment for variegate porphyria

Answer 31

Protection from sunlight

Question 32

Kaposi sarcoma symptoms

Answer 32

Dark purple lesions on lower legs/feet initially (eventually in oral mucosa)

Question 33

Multiple sarcomas can run in a family who pass on this gene mutation to their children

Answer 33

P53 mutation (oncogene)

Question 34

Average age of chondrosarcoma patients

Answer 34

> 75 years old

Question 35

Things that trigger attacks of acute intermittent porphyria

Answer 35

- Drugs (oral contraceptives) - Endocrine factors - Reduced caloric intake

Question 36

Treatments for acute intermittent porphyria

Answer 36

IV dextrose and hematin (to slow/suppress heme synthesis)

Question 37

Describe the cause of porphyrias

Answer 37

Defect in enzyme responsible for heme synthesis Results in toxic accumulation of heme precursors

Question 38

Appearance of chondrosarcoma on x-ray

Answer 38

- Lytic appearance - Intralesional calcifications

Question 39

Which porphyria has no skin related symptoms?

Answer 39

Acute intermittent porphyria