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Residency - Molecular > Sarcoma and mesenchymal tumors > Flashcards

Sarcoma and mesenchymal tumors Flashcards

1
Q

Molecular features of sarcomas as a class

A

30% translocation-associated
70% complex karyotype

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2
Q

Translocations in alveolar rhabdomyosarcoma

A

PAX3-FOXO1A - 75%
PAX7-FOXO1A - 20%
PAX3 with various partners (FOXO4, NCOA1, NCOA2, AFX) - 5%

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3
Q

Translocations in alveolar soft part sarcoma

A

ASPSCR1-TFE3 - >95% of cases

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4
Q

Translocations in angiomatoid fibrous histiocytoma

A

EWSR1-CREB1 72%
EWSR1-ATF1 21%
FUS-AFT1 7%
EWSR1-CREM Rare

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5
Q

Molecular features in angiosarcoma, radiation associated

A

MYC amplification

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6
Q

Molecular features in atypical lipomatous tumor / well differentiated liposarcoma

A

HMGIC, CDK4, and MDM2 amplification

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7
Q

Translocations in biphenotypic sinonasal sarcoma

A

PAX3-MAML3 (most common)
PAX3-FOXO1
PAX3-NCOA1
PAX3-NCOA2
PAX3-WWTR1

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8
Q

Translocations in clear cell sarcoma of soft parts

A

EWSR1-ATF1 - 90%
EWSR1-CREB1 - 10%
EWSR1-CREM - Rare

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9
Q

Molecular features in clear cell sarcoma of the kidney

A

BCOR internal tandem duplications

Some overlap with renal sarcomas harboring BCOR-CCNB3 or YWAAE-NUTM2B

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10
Q

Translocations in dermatofibrosarcoma protuberans

A

COL1A1-PDGFB - 95% of cases
Rarely other PDGFB partners

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11
Q

Translocations in desmoplastic small round cell tumor

A

EWSR1-WT1 - >95% of cases

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12
Q

Translocations in low grade endometrial stromal sarcoma

A

JAZF1-SUZ12
JAZF1-PHF1
JAZF1-BCORL1
EPC1-PHF1
MEAF6-PHF1
BRD8-PHF1
MBTD1-CXorf67

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13
Q

Translocations in high grade endometrial stromal sarcoma

A

KDM2B-BREBBP
YWHAE-NUTM2B
ZC3H7B-BCOR

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14
Q

Translocations in epithelioid hemandioendothelioma

A

WWTR1-CAMTA1 - 85% of cases
TFE3-YAP1

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15
Q

Translocations in Ewing sarcoma and PNET/Ewing family of tumors

A

EWSR1-FLI1 (90%)
EWSR1-ERG (5%)
other EWSR1 partners: ETV1, ETV4, FEV, PATZ1, SP3, NFATC2, SMARCA5, POU5F1
FUS-ERG
FUS-FEV

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16
Q

Translocations in extraskeletal myxoid chondrosarcoma

A

EWSR1-NR4A3 (75%)
TAF15-NR4A3 (15%)
TCF12-NR4A3
TFG-NR4A3
HSPA8-NR4A3
NR4A3-FUS

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17
Q

Translocations in infantile fibrosarcoma

A

ETV6-NTRK3 (>95%)
EML4-NTRK3
BRAF fusions

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18
Q

Translocations in uterine epithelioid leioyosarcoma

A

NRA4A3-PGR and other PGR rearrangements

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19
Q

Translocations in uterine myxoid leiomyosarcomas

A

TRPS1-PLAG1
RAD51B-PLAG1

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20
Q

Translocations in low-grade fibromyxoid sarcoma

A

FUS-CRE3L2 (>95%)
FUS-CREB3L1 (less than 5%)
EWSR1-CREB3L1

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21
Q

Translocations in malignant tenosynovial giant cell tumor

A

CSF1-COL6A3

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22
Q

Translocations in mesenchymal chondrosarcoma

A

HEY1-NCOA2 (>90%)

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23
Q

Translocations in myoepithelial tumors of soft tissue

A

EWSR1-POU5F1
EWSR1-ZNF444
EWSR1-PBX1
EWSR1-PBX3
EWSR1-KLF17
EWSR1-ATF1

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24
Q

Translocations in myxoid liposarcoma

A

FUS-DDIT3 (90%)
EWSR1-DDIT3 (10%)

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25
Q

Translocations in myxoinflammatory fibroblastic sarcoma

A

TGFBR3-MGEA5

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26
Q

Translocations in ossifying fibromyxoid tumor

A

MEAF6-PHF1
EPC1-PHF1
EP400-PHF1
PHF1-TFE3
ZC3H7B-BCOR
CREBBP-BCORL1
KDM2A-WWTR1

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27
Q

Translocations in perivascular epithelioid cell tumor (PEComa)

A

TSC2 mutation (unless TFE3 rearranged)

PSF-TFE3
DVL2-TFE3
NONO-TFE3
RBMX-TFE3
RAD51B-RRAGB
HTR4-ST3GALI
RASSF1-PDZRN3
SCL4A10-ROS1
ROS1-NETO1

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28
Q

Translocations in PRDM10-rearranged soft tissue tumor

A

CITED2-PRDM10
MED12-PRDM10

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29
Q

Translocations in pseudomyogenic hemangioendothelioma

A

SERPINE1-FOSB (50%)
ACTB-FOSB (50%)

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30
Q

Translocations in primary pulmonary myxoid sarcoma

A

EWSR1-CREB1

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31
Q

Translocations in sclerosing epithelioid fibrosarcoma

A

EWSR1-CREB2L2
EWSR1-CREB2L1
RESR1-CREB3L3
FUS-CREB3L2

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32
Q

Translocations in solitary fibrous tumor

A

NAB2-STAT6 (>95%)

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33
Q

Translocations in spindle cell / sclerosing rhabdomyosarcoma

A

VGLL2-CITED2
NCOA2 fusions

or

MYOD1 L122R

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34
Q

Translocations in synovial sarcoma

A

SS18-SSX1 (65%)
SS18-SSX2 (35%)

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35
Q

Translocations in undifferentiated small round cell sarcomas

A

CIC-DUX4
CIC-DUX4L
CIC-FOXO4
CIC-NUTM1
NUTM2A-CIC
BCOR-CCNB3
BCOR-MAML3

BCOR ITDs

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36
Q

Translocations in acral fibroblastic spindle cell neoplasm

A

EWSR1-SMAD3

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37
Q

Translocations in “aggressive” deep angiomyxoma

A

HMGA2 rearrangements

38
Q

Translocations in angiofibroma of soft tissue

A

AHRR-NCOA2
GTF21-NCOA2
GAB1-ABL1
TBCK-PH4A2
PH4A2-TBCK
NCOA2-ETV4
ETV4-AHRR

39
Q

Translocations in aneurysmal bone cyst

A

USP6 translocations with multiple partners

Most common is USP6-CDH11

40
Q

Translocations in calcifying aponeurotic fibroma

A

FN1-EGF

41
Q

Molecular alterations in chondroblastoma

A

H3F3B K36M

42
Q

Translocations in chondromyxoid fibroma

A

COL12A1-GRM1
TBL1XR1-GRM1
BCLAF1-GRM1

43
Q

Translocations in cutaneous non-neuronal granular cell tumor

A

SQSTM1-ALK
DCTM1-ALK

44
Q

Molecular alterations in desmoid tumors

A

Sporadic: CTNNB1

Germline: APC

45
Q

Translocations in ectomesenchymal chondromyxoid tumor

A

RREB1-MKL2
EWSR1 rearrangements

46
Q

Translocations in epithelioid fibrous histiocytoma

A

ALK fusions with various partners

47
Q

Translocations in fibroma of tendon sheath

A

USP6 translocations

48
Q

Translocations in fibro-osseous pseudotumor of the digits

A

USP6 translocations

49
Q

Molecular alterations in fibrous hamartoma of infancy

A

EGFR ITDs

50
Q

Translocations in gastroblastoma

A

MALAT1-GLI1

51
Q

Molecular alterations in giant cell tumor of bone

A

H3F3A G34W or G34V
rarely G34R or G34L

52
Q

Translocations in lipoblastoma

A

PLAG1 rearrangements

53
Q

Translocations in lipofibromatosis

A

HBEGF-RBM27
EGR1-GRIA1
TPR-ROS
SPARC-PDGFRB
VCL-RET
EGFR-BRAF

54
Q

Translocations in lipofibromatosis-like neural tumor

A

NTRK1-rearrangements

55
Q

Translocations in lipoma

A

HMGA1 or HMGA2 rearrangements

56
Q

Translocations in chondroid lipoma

A

C11orf95-MKL2

57
Q

Molecular alterations in pleomorphic/spindle cell lipoma

A

RB1 loss

58
Q

Translocations in cellular myofibroma

A

SRF-RELA

59
Q

Molecular alterations in myopericytoma/myofibroma

A

PDGFRB mutations

60
Q

Translocations in myositis ossificans

A

USP6 rearrangements

61
Q

Molecular alterations in myxomas

A

GNAS activating mutations

62
Q

Translocations in nodular fasciitis

A

MYH9-USP6 (most common)
Other USP6 rearrangements

63
Q

Translocations in pericytoma

A

ACTB-GLI1

64
Q

Translocations in phosphaturic mesenchymal tumor

A

FN1-FGFR1

65
Q

Translocations in plexiform fibromyxoma

A

MALAT1-GLI1

66
Q

Translocations in osteoblastoma / osteoid osteoma

A

FOS and FOSB rearrangements

67
Q

Molecular alterations in schwannoma

A

NF2 loss

68
Q

Translocations in synovial chondromatosis

A

FN1-ACVR2A
or
ACVR2A-FN1

Present in both benign and malignant forms.

69
Q

Translocations in tenosynovial giant cell tumor

A

CSF1-COL6A3

70
Q

MDM2 amplified mesenchymal tumors

A
71
Q

Defining molecular features of adipocytic neoplasms

A
72
Q

Common molecular alterations in tumors of small vessels

A

Tend to have mutations in the Gaq family proteins (GNAQ, GNA11, GNA14).

Hotspot mutations in these genes disrupt GTPase activity regulating the MAPK pathway.

73
Q

Molecular alterations in vascular tumors

A
74
Q

Tumors with EWSR1 fusion to a CREB family member (CREB1, CREM, ATF1)

A
75
Q

NCOA2

A

Nuclear receptor co-activator-2

Transcriptional co-activator

Interacts with ligand-bound receptors to recruit histone acetyltransferases and methyltransferases, facilitating chromatin remodeling.

Frequent 3’ fusion partner in mesenchymal neoplasms.

The C-terminal transactivation domains 1 and 2 are retained in fusion proteins.

76
Q

Tumors with NCOA2 fusions

A
77
Q

Tumors with GLI1 fusions

A
78
Q

GLI1

A

GLI1 is an effector of the sonic hedgehog pathway with multiple downstream targets.

79
Q

Tumors with NTRK1/2/3 fusions

A
80
Q

SMARCB1-deficient mesenchymal neoplasms

A
81
Q

Tumors which bare the FUS-ERG translocation

A

Ewing sarcoma
AML or ALL with t(16;21)

82
Q

Tumors which bare the TMP3/4-ALK translocation

A

Inflammatory myofibroblastic tumor
Anaplastic large cell lymphoma
Renal cell carcinoma

83
Q

Tumors which bare the CLTC-ALK rearrangement

A

Inflammatory myofibroblastic tumor
ALK positive large B cell lymphoma
Extramedullary plasmacytoma

84
Q

Tumors which bare the RANBP2-ALK translocation

A

Inflammatory myofibroblastic tumor
ALK positive large B cell lymphoma
Myeloid leukemia

85
Q

Tumors which bare the ETV6-NTRK3 fusion

A

Infantile fibrosarcoma
Inflammatory myofibroblastic tumor
Congenital mesoblastic nephroma, cellular type
AML/ALL
Secretory carcinoma (breast)
Mammary analogue secretory carcinoma (salivary)
Pigmented spindle cell nevus of Reed / Spitz nevus
Rare papillary thyroid carcinomas
Rare GISTs

86
Q

Tumors which can bare the following translocations:
MEAF6-PHF1
EPC1-PHF1
EP400-PHF1
PHF1-TFE3
ZC3H7B-BCOR

A

Endometrial stromal sarcoma
Ossifying fibromyxoid tumor

87
Q

Tumors which bare the ASPACR1-TFE3 translocation

A

Alveolar soft part sarcoma
Renal cell carcinoma

88
Q

Tumors which bare the MALAT1-GLI1 translocation

A

Gastroblastoma
Plexiform fibromyxoma
GLI1-altered epithelioid soft tissue tumor (malignant)

89
Q

Tumors which bare the TGFBR3-MGEA5

A

Myxoinflammatory fibroblastic sarcoma
Hemosiderotic lipomatous tumor
Pleomorphic hyalinizing angiectatic tumor

90
Q

How to remember the synovial sarcoma translocation

A

Synovial Sarcoma on chr18 :: Synovial Sarcoma on chrX

SS18::SSX

91
Q

Recurrent translocation in embryonal rhabdomyosarcoma

A

Just kidding! We still have no idea.

The most common mulecular feature is polysomy 8, but we still don’t really know what causes this sarcoma.

Residency - Molecular (24 decks)

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