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FRCPath Genomics > 07 - Myeloma / Lymphoma / MDS / Sarcomas > Flashcards

07 - Myeloma / Lymphoma / MDS / Sarcomas Flashcards

1
Q

Multiple Myeloma involves which cell type?

A

plasma cells - mature B lymphocytes

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2
Q

what at the 3 stages in Multiple Myeloma

A

1) Monoclonal gammopathy of undetermined significance
2) Smouldering myeloma
3) Myeloma

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3
Q

what are the presenting features in Multiple Myeloma

A

CRAB:

C - hypercalcaemia
R - Renal failure
A - Anaemia
B - Bone disease

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4
Q

what are the typical cytogenetic findings in Multiple Myeloma

A

> Hyperdiploid - favourable
non-hyperdiploid - non-favourable

the latter typically involves structural rearrangements of the IgH locus
> t(4;14)
> t(14;16)

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5
Q

Lymphoma is a solid tumour of the immune systems. What structures/organs could be involved?

A

> Lymph nodes
Spleen
thymus
Bone Marrow

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6
Q

Lymphoma can be characterised into….

A

> Hodgkins Lymphoma (have characteristic Reed Sternberg cell

> Non-hodgkins lymphoma (more common)

  • this can be B-Cell or T-Cell
  • B-cell can be further distinguished between:
  • AGGRESSIVE (inc: diffuse large B cell lymphoma; Burkitt; mantle)
  • INDOLENT (inc: follicular; marginal zone; hairy cell)
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7
Q

What types of lymphoma are considered aggressive?

A

> diffuse large B cell lymphoma
Burkitt lymphoma
lymphoma mantle

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8
Q

What types of lymphoma are considered INDOLENT?

A

> follicular lymphoma
marginal zone lymphoma
hairy cell lymphoma

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9
Q

Hodgkins Lymphoma is associated with a _____ prognosis

A

good

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10
Q

What is the characteristic in Hodgkins Lymphoma

A

Reed Sternberg cell - looks like a face

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11
Q

What are the features of INDOLENT non-Hodgkins Lymphoma

A

> late presentation
slow progression
compatible with long life

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12
Q

What are the features of AGGRESSIVE non-Hodgkins Lymphoma

A

> early presentation
rapid progression
fatal without treatment

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13
Q

Tell me about Burkitt Lymphoma

A

> type of aggressive non-Hodgkins Lymphoma
more common children
MYC rearrangements are the hallmark of BL
‘starry sky’ appearance on historical
common translocation t(8;14) - MYC / IgH

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14
Q

Tell me about Diffuse Large B-Cell Lymphoma (DLBCL)

A 
> most common type of aggressive non-Hodgkins Lymphoma
> IgH rearrangements common:
- t(14;18) - IgH / BCL2
- t(3;14) - BCL6 / IgH
- t(8;14) - IgH / MYC
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15
Q

Tell me about Follicular Lymphoma

A

> type of INDOLENT non-Hodgkins Lymphoma
t(14;18) common - 80% cases
BCL2 / IgH = overexpression of BCL2 (inhibits apoptosis)
this rearrangement alone is insufficient to drive malignancy as 70% healthy adults have t(14;18) in this circulating clonal memory B-cells
typically also have 6q21 del (60% patients)
or 17p13 del (20% patients)

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16
Q

Tell me about MDS

A

> MDS = myelodysplastic syndrome
disorder of haematopoetic stem cell
affects more than one myeloid cell lineage (= cytopenia)
elevated blast count, but importantly less than 20%
risk of progression into AML
more common in elderly

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17
Q

What cytogenetic findings are seen in MDS

A 
> translocations rare, mostly copy number alterations
> GOOD prognosis:
- -Y
- del(20q)
- isolated del5q
> POOR prognosis
- complex (> 3 abs)
- Chr7 abs
18
Q

Tell me about MPN

A

> MPN = Myeloproliferative neoplasms
proliferation of >1 myeloid cell lineage in BM
enlargement of organs common (organomegaly)
progression of disorder leads to BM failure OR transformation into AML

19
Q

What are the cytogenetic findings seen in MPN

A 
> +8
> +9
> del(20q)
> del(13q)
> del(5q)
20
Q

What are the molecular genetic findings seen in MPN

A 
> JAK2 mutations
- tyrosine kinase in JAK/STAT pathway
- JAK2 mutations found in 95% patients with polycythaemia vera (PV) type MPN and 50% of Essential Thrombocythaemia (ET) type MPN
> V617F common mutations
> after that, exon 12

> MPL mutations:

  • Myeloproliferative leukaemia virus oncogene
  • seen in 5% patients with Essential Thrombocythaemia (ET) type MPN

> CALR mutations:

  • calreticulin
  • 80% frameshift mutations in ex9
  • found in 60-80% cases -ve for JAK2 / MPL
21
Q

Name 3 types of Sarcoma

A

1) Rhabdomyosarcoma - sarcoma of connective tissue
2) Ewing Sarcoma - sarcoma of bone
3) Synovial Sarcoma - sarcoma of the joints

22
Q

What are the types of Rhabdomyosarcoma? what are the common genetics findings?

A

1) Embryonal Rhabdomyosarcoma (ERMS)
- 70-80% of RMS in young patients
- often gain of Chromosomes (eg +2, +8, +11)
- hyperdiploidy ERMS = GOOD prognosis

2) Alveolar Rhabdomyosarcoma (ARMS)
- 20-30% of RMS
- translocations involving FOXO1:
- t(2;13) - PAX3/FOXO1 (60%)
- t(1;13) - PAX7/FOXO1 (20%)

note: MYCN amplification often seen in RMS = BAD prognosis

23
Q

What translocations are associated with Alveolar Rhabdomyosarcoma

A
  • translocations involving FOXO1:
  • t(2;13) - PAX3/FOXO1 (60%)
  • t(1;13) - PAX7/FOXO1 (20%)
24
Q

What are the symptoms of Ewing sarcoma? what are the common genetics findings?

A

Symptoms:

  • bone pain
  • fatigue
  • weight loss

Genetics:
- t(11;22) - FLI1/EWSR1

note: many other translocation, but almost all involve fusion of the EWSR1 gene

25
Q

What are the common genetics findings in of Synovial sarcoma

A

t(X;18) - SYT/SSX fusion

26
Q

what proportion of non-hodgkins lymphoma is B-Cell derived

A

85%

27
Q

What proportion of B-cell non-hodgkins lymphoma is aggressive

A

60-80%

28
Q

what gene is expressed in 90% of Mantle Cell Lymphomas, but not in any other B-Cell lymphomas

A

SOX11

29
Q

MDS stands for? What does it mean

A

Myelodysplastic Syndrome

Dysplasia (faulty) myeloid cell lineage - >1 myeloid cell is faulty = cytopenia

similar to AML, but crucially blast <20%

30
Q

MDS is more common in the __________

A

Elderly

31
Q

Translocations are __________ in MDS

A

Rare. Most cytogenetic abnormalities are numerical in MDS

32
Q

Name a good prognostic marker in MDS

A

-Y

del(20q)

33
Q

name a poor prognostic marker in MDS

A

complex (>3 abnormalities)

34
Q

what test would you do for a referral of polycythaemia

A

JAK2 common mutation V617F

35
Q

MPN stands for? What does it mean.

A

Myeloproliferative neoplasia.

Proliferation of >1 myeloid cell lineage, which are relatively normal in terms of cell maturation, but nether less there is a significant increase in the number of cells in the BM.

This can lead to BM failure or transformation into AML

36
Q

JAK2 mutations found in ______% of cases with polycythaemia

A

95%

37
Q

What type of gene does JAK2 encode

A

JAK2 encodes a tyrosine kinase involved in the JAK/STAT signalling pathway

38
Q

what other genes are tested in JAK2 -ve MPN

A

MPL and CALR

39
Q

Rhabdomyosarcoma is a sarcoma of _________

A

connective tissue

40
Q

Ewing Sarcoma is a sarcoma of the ________

A

Bone

41
Q

Synovial Sarcoma is a sarcoma of the________

A

joints

42
Q

What type of genetic abnormality is NOT see in ERMS

A

structural rearragements

FRCPath Genomics (12 decks)

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