Abdominal tumours

Question 1

Syndromes associated with WT

Answer 1

BWS
Denys-Drash (early ESRF; male pseudohermaphroditism; mesangial sclerosis)
Hemihypertrophy
WAGR (wilms, anhiridia, gu anomalies, mental retardation)

Question 2

Wilms metastases

Answer 2

Lung, liver, lymph nodes

Question 3

Genetic mutations in WT

Answer 3

WT1 (some associated w Denys-Drash)
WTX (on X chromosome)
70% loss of heterozygosity or imprinting at 11p15 - results in biallelic expression of IGF2

Question 4

Clinical presentation of WT

Answer 4

Abdominal mass in the bath
Hypertension (25%)
Gross painless haematuria
Bleeding 
IVC thrombus

Question 5

Rx for WT

Answer 5

Nephrectomy
Partial if bilateral or predisposition eg DD or WAGR
Chemo for stage 1& 2 vincristine & actinomycin D
Chemo for stage 3&4 vincristine doxorubicin and actinomycin D
Metastases:RTx

Question 6

Recurrence rates in WT

• favourable histo
• unfavourable

Overall survival

Answer 6

15%
50%
90%

Question 7

Laboratory findings in WT

Answer 7

Hematuria
Polycythaemia
Microcytic anaemia
Raised APTT
Acquired vWF def or factor VII def

Question 8

Neuroblastoma is the most common….

90% of cases diagnosed by age…

Answer 8

Extracranial solid tumour in children

5y

Question 9

Neuroblastoma derived from…

Other small round blue cell tumours…

Pathology prognosticators

Answer 9

Primordial neural crest cells

Rhabdomyosarcoma
Ewing
NHL

Prescence and amount of schwannian stroma, degree of differentiation, mitisis-karyorrhexis index

Question 10

Syndromes associated with Neuroblastoma

Answer 10

Neural crest eg. hirsprungs, central hypoventilation synd, NF1
BWS, hemihypertrophy

Horner syndrome ( do not resolve w treatment)
Opsoclonus-myoclonus-ataxia syndrome
Kerner-Morrison (secretory diarrhoea)
Hutchison (limping associated w bone mets)
Pepper syn (massive liver mets)

Question 11

Approx 50% Neuroblastoma arise from which intraabdominal organ

Remainder from…

Answer 11

Adrenal

Paraspinal sympathetic ganglia

Question 12

Neuroblastoma metastatic spread

Answer 12

Longbones, skull, lymph nodes, bone marrow, liver. Lungs & brain rare

Question 13

Neuroblastoma metastatic sx & signs

Answer 13

Fever
Irritability 
Cytopenia
FTT
Bone pain
Orbital proptosis
Periorbital ecchymoses
Bluish subcut nodules

Question 14

Tumour marker Neuroblastoma

Answer 14

Urine catecholamine metabolites
Homovanillic acid
Vanillylmandelic acid

Question 15

Treatment Neuroblastoma

Answer 15

Stage 1&2- surgery 
Stage 4s (infants <1y, stage 1or2 tumour with limited spread)- observation 
Stage 3&amp;4 cisplatin, carboplatin, cyclophosphamide, etoposide, doxorubicin +/- RTx

Question 16

Germ cell tumours
What cell origin
Migration can be ___ or _____

Differentiation types

Answer 16

Primordial germ cell (yolk sac)
Normal or abnormal- can be in gonads or other sites

Supressed differentiation
Germinoma (gonads or mediastinum)
Seminoma (testis)
Dysgerminoma (ovary)

Differentiated
Embryonic- teratoma (sacrococcygeal) or embryonal carcinoma (testicular)
Extraembryonal (placental, highly malignant)

Question 17

Gonadal non-GCTs
Extragonadal sites
Serum marker
Also produces

Answer 17

Sacrococcygeal 
Mediastinum 
Suprasellar
Neck
Retroperitoneal

AFP
Testosterone
Oestrogen