Tutorial 1 June 2015

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1 June 2015.

7	EMQ.  Mode of inheritance
8	EMQ.  Cervical cancer staging
9	SBA.  Cancer incidence & mortality
10	EMQ. Stolen notes
11	EMQ. Cowden syndrome

7. Mode of inheritance.

Lead-in.

The following questions relate to the mode of inheritance – some not quite to “mode”, but I am sure you will indulge me!

For each question, write what you think is the mode of inheritance or appropriate answer. There is no option list.

Comment.

You are expected to know a lot of basic genetics and it is hard to remember the details. A list to go over in the days before the exam makes sense. Use this one and add anything else you can think of – and let me know of your additions so I can add them to this list. Don’t add a load of rare syndromes – you will just end up confused. But add anything that you know has featured in the exam.

List of questions.

achondrogenesis.

achondroplasia.

acute fatty liver of pregnancy (AFLP).

adreno-genital syndrome

adult polycystic kidney disease.

androgen insensitivity syndrome.

albinism.

Angelman syndrome.

Apert syndrome.

Becker muscular dystrophy.

Beckwith-Wiedemann syndrome.

BRCA 1.

BRCA2.

Cavanan syndrome.

Charcot-Marie-Tooth disease.

chondrodystrophy.

Christmas disease.

congenital adrenal hyperplasia.

Cowden syndrome.

cri-du-chat syndrome. 

cystic fibrosis.

Dandy-Walker syndrome.

developmental dysplasia of the hip.

Down’s syndrome.

Duchenne muscular dystrophy

Dwarfism. See isolated growth hormone deficiency.

Edward’s syndrome.

exomphalos.

Ehlers-Danlos syndrome

Fanconi anaemia

Fitz-Hugh-Curtis syndrome.

Fragile X syndrome.

galactosaemia.

gastroschisis.

glucose-6-phosphatase deficiency. G6PD.

glucose-6-phosphate dehydrogenase deficiency. G6PDD.

haemochromatosis.

haemosiderosis..

haemophilia A:

haemophilia B:

Hunter syndrome.

Huntington’s disease.

ichthyosis.

isolated growth hormone deficiency.

juvenile polycystic kidney disease.

Kallmann’s syndrome.

Klinefelter’s syndrome.

Lesch Nyhan syndrome.

Lynch syndrome (HNPCC).

Malignant hyperthermia.

Maple syrup urine disease. 

Marfan’s syndrome.

Martin-Bell syndrome.

Mayer-Rokitansky-Kuster-Hauser syndrome.

McCune-Albright syndrome.

Meckel-Gruber syndrome.

Medium-chain acyl-CoA dehydrogenase deficiency.

mucopolysaccharidosis type I.

Myotonic dystrophy.

neurofibromatosis.

Niemann-Pick disease.

Noonan syndrome.

ocular albinism.

osteogenesis imperfecta.

osteoporosis.

Patau’s syndrome.

Perrault syndrome.

phenyketonuria.

polydactyly.

porphyria.

Potter’s syndrome.

Prader-Willi syndrome. 

Prune-belly syndrome

pyruvate kinase deficiency.

sickle cell disease.

spherocytosis.

Syndrome X.

Tay-Sach’s disease.

Thalassaemia.

Thrombophilia.

Triple X syndrome.

Turner’s syndrome.

Swyer’s syndrome.

Uniparental disomy.

VACTERL.

vitamin D resistant rickets

von Willebrand’s disease.

A mother has spina bifida. What is the risk of a child being affected? 

A mother has had a child with spina bifida, what is the risk of the next child being affected?  

A mother has had two children with spina bifida. What is the risk of the next child being affected?

A mother has grand-mal epilepsy. What is the risk of her child having epilepsy?

A mother and her partner both have grand-mal epilepsy. What is the risk of their child having epilepsy?

A mother has insulin-dependent diabetes mellitus. What is the risk of a child being affected?

A mother has congenital heart disease. What is the risk of a child being affected? 

A mother takes lithium for bi-polar disorder throughout her pregnancy. What is the risk of the child having congenital heart disease?

A mother has a nuchal translucency scan at 11 weeks. The result is 6 mm. What is the risk of the fetus having congenital heart disease?

8 Ca Cx staging.

Lead-in.

The following scenarios relate to cervical cancer staging.

For each, select the most appropriate staging.

Pick one option from the option list.

Each option can be used once, more than once or not at all.

Scenario 1.

A woman of 25 has a cone biopsy. The histology report shows squamous cell carcinoma penetrating to a depth of 2 mm and 6 mm in width. The resection margins are tumour-free. There is no evidence of spread outside the uterus. She is nulliparous and wishes to retain her fertility.

Scenario 2.

A woman of 25 has a cone biopsy. The histology report shows squamous cell carcinoma penetrating to a depth of 5 mm and 6 mm in width. The resection margins are tumour-free. There is no evidence of spread outside the uterus. She is nulliparous and wishes to retain her fertility.

Scenario 3.

A woman of 25 has a cone biopsy. The histology report shows squamous cell carcinoma penetrating to a depth of 5 mm and 6 mm in width. The resection margins are not tumour-free. There is no evidence of spread outside the uterus. She is nulliparous and wishes to retain her fertility.

Scenario 4.

A woman of 25 has a cone biopsy. The histology report shows squamous cell carcinoma penetrating to a depth of 6 mm and 3 cm in width. The resection margins are tumour-free. There is no evidence of extension outside the uterus. She is nulliparous and wishes to retain her fertility.

Scenario 5.

A woman of 25 has a cone biopsy. The histology report shows squamous cell carcinoma penetrating to a depth of 6 mm and 5 cm in width. The resection margins are tumour-free. She is nulliparous and wishes to retain her fertility.

Scenario 6.

A woman of 38 has a cone biopsy. The histology report shows squamous cell carcinoma penetrating to a depth of 4 mm and 6mm in width. The resection margins are tumour-free. An MR scan shows involvement of the lymphatic nodes in the left of the pelvis.

Scenario 7.

A woman of 45 has carcinoma of the cervix. It extends into the parametrium, but not to the pelvic side-wall. It involves the upper 1/3 of the vagina. There is MR evidence of para-aortic node involvement.

Scenario 8.

A woman of 55 has carcinoma of the cervix. It extends to the pelvic side-wall. It involves the upper 1/3 of the vagina. She has a secondary on the end of her nose.

Scenario 9.

A woman of 55 has carcinoma of the cervix. It involves the bladder mucosa.

Scenario 10.

A woman of 35 has a proven cancer of the cervix with extension into the right parametrium, but not to the pelvic side-wall. Left hydroureter and left non-functioning kidney are noted on IVP and there is no other explanation for the findings. Cystoscopy shows bullous oedema of the bladder mucosa.

Scenario 11.

A woman of 25 has a cone biopsy. It shows malignant melanoma. The lesion invades to a depth of 3 mm and is 5 mm in width. The margins of the biopsy are clear. There is evidence of lymphatic vessel involvement. There is no evidence of spread outside the uterus.

Option list.

Micro-invasive cervical cancer.

Stage Ia1

Stage Ia2

Stage Ia3

Stage Ib1

Stage Ib2

Stage Ib3

Stage IIa

Stage IIb

Stage IIc

Stage IIIa

Stage IIIb

Stage IIIc

Stage IVa

Stage IVb

Stage IVc

Stage Va

Stage Vb

Stage Vc

None of the above.

This question illustrates the problems surrounding staging. If you are not a cancer specialist, it is not something that you think about very often, if ever. So you have to put it into your list of things to revise in the days before the exam. If you haven’t started this list, do so now.

9 Cancer incidence and mortality.

Question 1.

Lead-in

What is the most common female cancer?

Option List

	Bowel
	Breast
	Cervix
	Endometrium
	Lung

Question 2.

Lead-in

What is the 2^nd. most common female cancer?

Option List

	Bowel
	Breast
	Cervix
	Endometrium
	Lung

Question 3.

Lead-in

What is the 3^rd. most common female cancer.

Option List

	Bowel
	Breast
	Cervix
	Endometrium
	Lung

Question 4.

Lead-in

What is the 4^th. most common female cancer.

Option List

	Bowel
	Breast
	Cervix
	Endometrium
	Lung

Question 5.

Lead-in

What is the 5^th. most common female cancer?

Option List

	Cervix
	Non-Hodgkin’s lymphoma
	Ovary
	Skin
	Vulva

Question 6.

Lead-in

What is the most common cancer causing female death in the UK?

Option List

	Breast
	Bowel
	Lung
	Ovary
	Pancreas

Question 7.

Lead-in

What is the 2^nd. most common cancer causing female death in the UK?

Option List

	Breast
	Bowel
	Lung
	Ovary
	Pancreas

Question 8.

Lead-in

What is the 3^rd. most common cancer causing female death in the UK?

Option List

	Breast
	Bowel
	Lung
	Ovary
	Pancreas

Question 9.

Lead-in

What is the 4^th. most common cancer causing female death in the UK?

Option List

	Brain
	Oesophagus
	Ovary
	Pancreas
	Uterus

Question 10.

Lead-in

What is the 5^th. most common cancer causing female death in the UK?

Option List

	Brain
	Oesophagus
	Ovary
	Pancreas
	Uterus

10. Risk management: stolen case notes.

Stolen case-notes.

Lead-in.

A doctor has been asked to carry out an audit and 50 sets of case-notes are to be used.

He is given 49 sets of notes and a day in which to go through them and extract the necessary data.

This he does in the hospital.

The final set of notes cannot be found initially, but are found two weeks later.

The doctor is given the notes on a Friday afternoon as he is leaving for home.

He decides to take the notes home to extract the data.

On the way home he stops at his favourite supermarket.

When he emerges, his car has been stolen with the notes inside.

He reports the theft to the police.

He informs you, the Clinical Director, on the Monday when he returns to work.

What action will you take?

Pick one option from the option list.

Abbreviations.

NHSLA: NHS Litigation Authority

Option list.

	Report events to the Caldicott Guardian
	Report events to the Chief Executive
	Report events to the General Medical Council
	Report events to the NHSLA as a “never event”
	Report events to the NHSLA as a “serious incident”
	Report events to the Root Cause Analysis Team
	Report events as a serious adverse incident
	Report events to the Trust Information Management Committee
	Suspend the doctor until a full investigation has been done

11. Cowden syndrome.

Scenario 1.

Lead in.

Which feature is associated with Cowden syndrome?

Option list.

A.     albinism

B.     hamartoma

C.     hammer-toe

D.     hypertrichosis

E.     stammer

Scenario 2.

Lead in. Which condition has the highest risk of occurrence in women with Cs?

Option list.

A.     breast cancer

B.     bowel cancer

C.     congenital absence of Mullerian tract derivatives

D.     hypertension

E.     hypothyroidism

Scenario 3.

Lead in. Which gynaecological cancer is a particular risk for women with Cs?

Option list.

A.     Bartholin’s gland cancer

B.     cervical cancer

C.     choriocarcinoma

D.     endometrial cancer

E.     vulval cancer

Scenario 4.

Lead in. Which cancer has increased risk for men with Cs?

Option list.

A.     breast cancer

B.     colon cancer

C.     melanoma

D.     renal cancer

E.     thyroid cancer

F.      all of the above