Cytocell Pathology Portfolio Review

Steve Chatters – Senior Product Manager

April 2017

Oxford Gene Technology

The Molecular Genetics Company™

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Pathology probes launched last year

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Probes launched

1p36/1q25 and 19q13/19p13 Deletion Probe Kit

ROS1 Plus

RET Breakapart

FUS Breakapart

TFE3 Breakapart*

FOXO1 Breakapart

* For research use only, not for use in diagnostic procedures

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• Whole arm losses of the short arm of chromosome 1 and the long arm of chromosome 19 -

t(1;19)(q10;p10)

• Oligodendrogliomas

• Good response to treatment

1p36/1q25 and 19q13/19p13 Deletion Probe Kit – LPS047

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• 2% of patients with non small-cell lung cancer (NSCLC)

• A number of fusion identified: , SDC4 and CD74

• Interstitial deletion of a 240kb region of chromosome 6q21 can produce a

fusion of the GOPC and ROS1 genes (originally identified in

glioblastoma)

• SCLC patients with ROS1 rearrangements have been shown to respond

to treatment with ALK/MET tyrosine kinase inhibitors, such as crizotinib

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ROS1 Plus Breakapart – LPS 046

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• Seen in 1-2% of lung adenocarcinomas, a subset of NSCLC, and

papillary thyroid carcinoma

• Targeted multi-tyrosine kinase inhibitor drugs are currently in clinical trials

for use on patients with RET rearrangements

• RET Breakapart – LPS 047

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FOXO1 Breakapart – LPS 049

• 13q14

• Seen in alveolar rhabdomyosarcoma (ARMS)

Reported translocations

t(2;13)(q35.2;q14) (PAX3/FOXO1)

t(1;13)(p36;q14) (PAX7/FOXO1)

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FUS Breakapart – LPS 050

• 16p11

• Soft tissue sarcomas• t(12;16)(q13;p11) FUS-DDIT3 Myxoid liposarcoma

• t(16;21)(p11;q22) FUS-ERG AML, Ewings

• t(12;16)(q13;p11) FUS-ATF1 Angiomatoid-fibrous histiocytoma

• t(7;16)(q32-34;p11) FUS-CREB3L2 Low grade fibromyxoid sarcoma

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TFE3 Breakapart* – RU-LPS 051

• Xp11.23

• Renal cell carcinomas (children and adolescents) • t(X;1)(p11.2;q21.2) PRCC-TFE3, t(X;1)(p11.2;p34) PSF-TFE3 , inv(X)(p11.2q12) NONO-TFE3

• Alveolar soft part sarcoma• der(17)t(X;17)(p11.2;q25) ASPL-TFE3

• Perivascular epithelioid cell tumours• SFPQ-TFE3

* For research use only, not for use in diagnostic procedures

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Upcoming launches

Triple colour probes sets

• HER2

• Includes blue 17p

• 1p19q

• Includes 1p blue &19q blue

• MDM2/CDK4/12 centromere

Lymphoma

• BIRC3-MALT dual fusion

• Extranodal marginal zone B-cell lymphoma of the mucosa-associated

lymphoid tissue (MALT) type

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Upcoming launches

• MDM2/CDK4/12 centromere triple colour

• Well-differentiated liposarcoma, osteosarcoma

• USP6 breakapart

• Nodular fasciitis and aneurysmal bone cyst

• ETV6-NTRK3 dual-fusion

• Ph’-like ALL

• Infantile fibrosarcoma, mesoblastic nephroma and secretory breast

carcinoma

• WWTR1-CAMTA dual-fusion

• Epithelioid hemangioendothelioma

• NR4A3 breakapart

• Extraskeletal myxoid chondrosarcoma

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Interesting myProbes* & thoughts for the future…

• Hodgkin Disease

• PDL1/2

• Lung cancer

• STK11(LKB1)

• Lymphoma

• IRF4 (DUSP22, MUM1) -

• Melanoma

• SETDB1

• MITF

• Endometrial stromal

sarcoma

• JAZF1

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• Mucoepidermoid carcinoma

• MAML2• Thyroid carcinoma

• PPARG

• Gastric Cancer

• FGFR2

• Colorectal cancer

• PIK3CA

• NTRK1

• Rhabdomyosarcoma

• NCOA2 Spindle cell RMS

• FOXO1 triple colour

* For research use only, not for use in diagnostic procedures

Thank you