Pathology - Tumours Of Infancy & Childhood

Question 0

What are some examples of Hamartomas?

Answer 0

Hemangiomas, lymphangiomas, rhabdomyomas of the heart, adenomas of the liver, and developmental cysts in the kidney, pancreas, or lungs could be considered hamartomas.

Question 1

Define a Hamartoma

Answer 1

An excessive but focal overgrowth of cells and tissues native to the organ in which it occurs. They do NOT reproduce the normal architecture of the surrounding tissue.

Question 2

Name the 4 more common benign tumours of infancy and childhood:

Answer 2

Hemangiomas, lymphangiomas, fibrous lesions, and teratomas.

Question 3

What underlying genetic disease may hemangiomas represent?

Answer 3

von Hippel-Lindau disease. A rare, autosomal dominant disease due to mutation of vHL tumour suppressor gene (3p.25.3). Increases risk of a number of tumours.

Question 4

Where do teratomas usually occur?

Answer 4

40% of childhood teratomas occur as sacrococcygeal teratomas. They are 4 times more common in females. Other sites include the testes or ovaries, and various midline locations, such as the mediastinum, retroperitoneum, and head and neck.

Question 5

10% of teratomas are associated with what kind of other congenital anomalies?

Answer 5

Midline defects, such as defects of the hindgut and cloacal region, as well as meningocoele and spina bifida. These are not related to local effects of the teratoma.

Question 6

What are the most frequent childhood cancers? Contrast this with adult cancer frequency.

Answer 6

Childhood:
Haematopoetic, nervous tissue (inc. sympathetic NS, adrenal medulla, retina), soft tissues, bone, and kidney.

Adult:
Epithelial; Lung, Breast, Prostate, Colon, Skin!

Question 7

Which neoplasms display striking incidence in children under the age of 10?

(10 to name)

Answer 7

Leukaemia (ALL)
Neuroblastoma
Wilm's tumour
Hepatoblastoma
Retinoblastoma
Rhabdomyosarcoma
Teratoma
Ewing sarcoma
Posterior fossa neoplasms (medullablastoma & epyndymoma)

Question 8

What is the differential of a “small round blue cell tumour”?

Answer 8

Neuroblastoma
Wilms tumour
Lymphoma
Rhabdomyosarcoma
Ewing sarcoma/primitive NEcto tumour

Question 9

What are the characteristics of the neuroblastic tumour family?

(3 to name)

Answer 9

Spontaneous or therapy induced differentiation into mature elements.
Spontaneous tumour regression.
A wide range of clinical behaviour and prognosis.

Question 10

What is the most lethal childhood malignancy?

Answer 10

Leukaemia accounts for more deaths than all other tumours combined in children under 15.

Question 11

Where do neuroblastomas most commonly arise?

Where else can they occur?

Answer 11

40% arise in the adrenal medulla.

The remainder can occur anywhere along the sympathetic chain (brain to pelvis).

Question 12

Histological features of neuroblastomas include?

Name 3

Answer 12

(Small, blue, round cell tumour)

Karyorrhexis, Homer-Wright pseudorossetes, and mitotic activity.

Question 13

What are two important aspects of Schwann cells appearing in neuroblastomas?

Answer 13

1. Indicates maturation into ganglioneuroma or ganglioneuroblastoma.
2. Favourable prognosis.

Question 14

Clinical features of Neuroblastomas?

Age, PC, metastatic spread

Answer 14

Usually children <2 years or age.
Large abdominal mass, fever, wt loss. Metastatic disease is widespread via blood and lymph.

PC may be due to compressive symptoms of metastatic disease.

Question 15

What does the “blue berry muffin baby” have?

Answer 15

Metastatic Neuroblastomata: cutaneous deposits.

Question 16

90% of neuroblastomas produce?

Answer 16

Catecholamines BUT hypertension is less commonly seen that with phaeo’s.

Question 17

Hyperploidy and near-triploidy...
Non-amplification of N-myc...
Low telomerase expression...
CD44 expression...
Absence of 17q gain...

Are all what?

Answer 17

Favourable features for neuroblastoma disease.

Question 18

Diploidy, near di/tetraploidy...
N-myc expression...
Telomerase expression...
17q gain...
CD44 absence...

Are all what?

Answer 18

Unfavourable features of neuroblastoma disease.

Question 19

What are the 3 groups of congenital malformations associated with (10%) of Wilms tumours?

Answer 19

1. WAGR Syndrome:
   Aniridia, genital anomalies, retardation
2. Denys-Drash syndrome:
   Gonadal dysgenesis, early-onset nephropathy, 90% get Wilms.
3. Beckwith-Weidemann syndrome:
   Big organs, big tongue, big head.

Question 20

Clinical features of Wilms tumours?

Age, PC, metastatic

Answer 20

Children usually between 2-5
Present with abdominal mass, haematuria, obstruction, or hypertension.
Pulmonary metastases are often present at presentation.

Question 21

Prognosis of Wilms with nephrectomy and chemo?

Answer 21

Very good.
90% 2 year survival.

Worse with diffuse anaplasia, hence histology is important.

Question 22

Unfavourable histological feature of a Wilms tumour?

Answer 22

Diffuse anaplasia.

Question 23

Prognosis of neuroblastomas?

Answer 23

Dependant on stage, if 1-2 then 90% 5 year survival.

Even with unfavourable features, survival can be 50%.