Author

n

Age (y)

Family History of CRC or Genetic Syndromes

Pathology

Stage

Survival/ Comments

Mathey, 2021, Argentina

15

< 20 (r:11-19)

2 history of HGG (1 NF1)

1 Crohn

1 UC

Mucinous: 9

Signet-ring cells: 5

Poorly differentiated: 6

Dukes C/D: 14

M1: 9

2 pts alive

Cortez-Pinto, 2019, Portugal [29]

5

< 18 (r:9-17)

4/5 had family history of cancer in 2nd-degree relatives (2 CRC history) No MSI or MMRD

3/5 signet ring cells/mucinous histology

Khan SA, 2016, USA [7]

94

<30

(r:11-30)

Family history in 43% (vs. 26% in adults)

Poorly differentiated 37%

Signet-ring cells 13%

Advanced stages 76%

OS 5-y 40-48% (vs. 70-81%) compared with adults

Poles GC, 2015, USA [16]

918

(SEER)

<21

FAP 2.6% (p<0.001) compared with adults

Signet-ring cells 15.4%

Mucinous 17.5%

Poorly differentiated 30%

Stages III-IV 62% (vs. 37%)

Weber ML, 2016, German [17]

31

≤18

11 pts: 8 HNPCC - 1 FAP - 2 other

OS 100% vs 36-50% without Genetic Syndromes

6 pts developed other malignancies: 3 NHL-T, 3 Glioblastoma

Du F, 2015,

China [8]

19

10-20

MMRD in 2 of 9 pts analyzed

Signet-ring cells 37%

Mucinous 26%

Stages: III 52.6% y IV 26.3%. Nodes + 89%.

OS 5-y 23%

Rahman M, 2014, Bangladesh [18]

7

6-10

2 FAP

2 Signet-ring cells

5 Poorly differentiated

Dukes Stages: 4 pts D, 1 pt By 2 pts A (both with FAP)

Kaplan MA, 2013, Turkey [1]

76

<25

15 family history of CRC (21.7%)

5 (6.8%) APC

OS 16.3 m (r: 1-107 m).

Tay CH, 2012, Taiwan [19]

8

0-18

-

87.5% Dukes stages C/D

25% CEA high level.

Sultan I, 2010, Jordan, SEER [2]

159

4-20

10% APC

Mucinous 22%.

Signet-ring cells 18%.

Poorly differentiated / undifferentiated 31.9%.

Localized 19%

OS 5-y 40% vs 60% adults

Salas-Valverde S, 2009, Costa Rica [13]

11

7-17

2 APC, 1 Turner syndrome

Mucinous 64%

0 Dukes A and 2 Dukes B: alive

9 Dukes C/D: OS: < 17 m

Delay in diagnosis: 6 days -1 y (media: 3.9 m).

Ferrari A, 2008, Italy [9]

27

<30

3 pts MSI (1 family history of HNPCC) vs.

6 FAP + 5 HNPCC in adults

Stages III-IV 86% vs 40% in adults

Delay in diagnosis: 1-12 m.

PFS 5-y 18% and OS 5-y 23% vs. PFS 62.5% and OS 73% in adults.

Hill DA, 2007, USA

[3]

77

7-19

1 FAP, 6 juvenile polyps,

1 UC, 1 NF1,

 2 history of irradiation because of RMS.

3 pts 2nd malignancy

Mucinous 62%

Advanced stages 86%, M1 51%.

OS 10-y: 20.1%; EFS 10-y: 17.7%.

21% pts alive with medial survival of 12.2 y.

Kravarusic D, 2007, Israel [20]

7

2-18

-

4 Mucinous +/- Signet-ring cells

Delay in diagnosis 2-12m

3 pts alive

Durno C, 2005, Canada [21]

16

9-24

8/11 MSI

6/14 CMMRD

1 CMMRD: homozygous MLH-1 - brother (11y) with duodenal adenocarcinoma

7/16 developed 2nd malignancies

Chantada GL, 2005, Argentina [5]

21

10-30

3 family history of CRC

Pts <20 years old: Staged III and IV

11/14 died

OS 5-y 10% vs. 72% in adults

Delay in diagnosis: 2-24 m

Radhakrisshnan CN, 2003, England [22]

8

<16

-

Poorly differentiated 50%

All Dukes stage C

All died (1-12 m from diagnosis)

Vastyan AM, 2001, Hungary / UK [14]

7

<15

(r:9-15)

1: 2nd malignancy (Astrocytoma previous)

 1: later presented 2nd malignancy (AML)

5/7 aggressive histological

5 Dukes stage C

2 Dukes stage D

*1 case: metastasis in ovaries (Kruckenberg tumors)

6 pts died (6m-5y from diagnosis)

Delay in diagnosis: 1-12 m (media 4 m)

Datta RV, 2000, USA [11]/

 La Quardia MP, 1992, USA [10].

29

<21

7 family histories of CRC

1 HNPCC

1 FAP

1 UC

6/16 MSI

1 previous irradiation because of Wilms´ tumor

Signet-ring cells 45%. Poorly differentiated 24%.

76%: lymph node involvement

24 % metastasis.

Median delay in diagnosis: 2 m

OS 3-y: 24%.

Median OS: 16 m

If complete resection: median OS 33 m

Karnak I, 1999, Turkey [23]

20

<16

(r:7-16)

3 family histories of CRC

1 Bloom Syndrome

16/20 (80%) Mucinous

100% advanced stage (35% Dukes C, 65% Dukes D)

17/20 died

Delay in diagnosis: 2-15 days in Acute surgical abdomen; 1-24m in other clinical presentations.

Steinberg, 1988, USA [24]

9

10-20

1 Turcot syndrome

6 Poorly differentiated or Mucinous

5 pts delayed diagnosis (>3 m, median delay in diagnosis 11,6 m): 2 pts Dukes C and 3 pts Dukes D, median OS 4 m.

4 pts early diagnosis (median 20 days): 3 Dukes C and 1 Dukes D, median OS 24 m.

Andersson, 1976, Sweden [25]

6

< 15

-

2 pts Acute surgical abdomen

All died. Longest survival 3y9m

Chabalco, 1975, USA [26]

76

<20

1 family CRC

4 FAP- 3 UC - 1 colitis granulomatous

1: Mangioendothelioma

1: Astrocytoma previous (Turcot syndrome)

32% Mucinous.

Brown, 1992, South Africa [15]

7

10-15

-

5 Mucinous

4 Poorly differentiated

2 Signet-ring cells.

4 pts initial diagnosis: Acute surgical abdomen

Delay in diagnosis 4.5m (r:2-6 m).

Lamego CMB, 1989, Brazil [27]

11

6-15

1 FAP

8 pts Mucinous

7 pts stages III and IV.

5 pts metastasis

Delay in diagnosis: 2-360 days

Goldthorn JF, 1983, Taiwan [28]

7

11-20

3 pts with predisposition (FAP o UC)

1 Mucinous

3 pts Dukes stage D

5 pts died

Indini, 2017, Italy [12]

12

< 18

2 pts MMRD.

5 Poorly differentiated

4 Mucinous

2 pts Signet-ring cells

All stages II/IV

6 pts metastasis.

6 pts alive with survival of 51.7 m

6 pts disease progression

OS of 17 m (r:3-34 m)

Delay in diagnosis: 1-12 m