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Table 2 Several genomic imbalances identified in the three tumor samples and their clinical association described in the literature

From: Genetic and epigenetic characterization of the tumors in a patient with a tongue primary tumor, a recurrence and a pharyngoesophageal second primary tumor

     

Present Study

Chr.

Genes

Type of alteration

Clinical association

References

Primary Tumor

Recurrence

SPT

3p21.31

SEMA3F

Loss

High metastasis and poor survival

[14]

No

Yes

Yes

3p22.2

MLH1

Loss

Early stages of disease

[15]

Yes

Yes

Yes

3p14.2

FHIT

Loss

Early Event

[16]

No

Yes

No

3q26.32

PIK3CA

Gain

Poor prognosis

[17, 18]

No

No

Yes

3q26.33

SOX2

Gain

Metastasis,worse outcome, resistance to cisplatin

[19]

No

Yes

No

4q32.3

PALLD

LOH

Poor survival

[20]

No

Yes

No

4q32.3

DDX60L

LOH

Poor survival

[20]

No

Yes

No

4q35.2

ING2

LOH

Advanced stage

[21]

Yes

Yes

No

4q35.2

FAT1

LOH

Advanced tumour stage

[22]

No

Yes

No

7p11.2

EGFR

Gain

Poor prognostic

[23]

No

Yes

Yes

9p21.3

CDKN2A

Loss

High frequency of recurrences; early event in HNSCC progression

[24]

No

Yes

Gain

9p21.3

CDKN2B

Loss

Early event in HNSCC progression

[25]

No

Yes

Gain

11q13.3

FADD

Gain

Worse disease-specific survival

[26]

No

Yes

Yes

11q13.3

ANO1

Gain

Poor overall survival, metastases

[27, 28]

No

Yes

Yes

11q13.3

CTTN

Gain

Lymph node metastasis

[29]

No

Yes

Yes

11q13.3

CCND1

Gain

Presence of occult lymph node metastases, advanced clinical stage and shorter survival

[30, 31]

No

Yes

Yes

11q21

MRE11A

Loss

Reduced sensitivity to ionizing radiation in HNSCC

[32]

No

No

Yes

11q22.3

ATM

Loss

Reduced sensitivity to ionizing radiation in HNSCC

[32]

Yes

Yes

Yes

11q23.3

H2AFX

Loss

Reduced sensitivity to ionizing radiation in HNSCC

[32]

Yes

Yes

Yes

13q13.1

BRCA2

LOH

Poor patient outcome

[33]

Yes

Yes

Yes

13q14.2

RB1

LOH

Poor patient outcome

[33]

Yes

Yes

Yes

17p13.1

TP53

Loss

Nonresponse to neoadjuvant chemotherapy

[34]

Yes

Yes

Yes

18q21.2

SMAD4

Loss

Advanced stage and poor prognosis

[35]

No

Yes

No

18q23

GALR1

Methylation

Advanced stage and poor prognosis

[36, 37]

No

Loss

No

22q13.2

CYB5R3

Loss

Worse prognosis, decreased survival

[38]

Yes

No

No