Open Access

MiT translocation renal cell carcinomas: two subgroups of tumours with translocations involving 6p21 [t (6; 11)] and Xp11.2 [t (X;1 or X or 17)]

  • Milan Hora1, 5Email author,
  • Tomáš Ürge1, 5,
  • Ivan Trávníček1, 5,
  • Jiří Ferda2, 5,
  • Zdeněk Chudáček2,
  • Tomáš Vaněček3,
  • Michal Michal3, 5,
  • Fredrik Petersson4,
  • Naoto Kuroda6 and
  • Ondřej Hes3, 5
SpringerPlus20143:245

https://doi.org/10.1186/2193-1801-3-245

Received: 16 January 2014

Accepted: 30 April 2014

Published: 13 May 2014

Abstract

Introduction

MiT translocation renal cell carcinomas (TRCC) predominantly occur in younger patients with only 25% of patients being over 40 years. TRCC contains two main subgroups with translocations involving 6p21 or Xp11.2. Herein we present 10 cases.

Materials

Eight cases were treated at main author’s institution (identified among 1653 (0.48%) cases of kidney tumours in adults). Two cases were retrieved from the Pilsen (CZ) Tumour Registry.

Results

Six cases were type Xp11.2 and four 6p21; 7 female, 3 male patients; Xp11.2 4:2, 6p21 3:1. The mean age 49 years (range: 21–80), 5 patients (50%) over 40 years. The mean age of the group with Xp11.2 TRCCs was 55 (median 51) and 6p21 41 (32) years. One female with a 6p21 tumour (24 years) underwent nephrectomy at 4 months of pregnancy. Stage (UICC, 7th ed. 2009) was 5xI, 3xIII, 2xIV. The mean size of tumour was 80 (40–165) mm. The mean follow-up was 33.2 (1–92) months. In patients with 6p21 tumours, one (25%) died after 3 months due to widely metastatic disease. In patients with Xp11.2 tumours, 3 (50%) succumbed due to metastatic disease (range 1–8 months). Three patients with Xp11.2 are alive at 7, 52 and 92 months of follow-up, were diagnosed at early stage (T1a).

Conclusion

TRCCs were more common in females. Patient with 6p21 tumours were younger than those with Xp11.2. Both types have definitive malignant potential Type Xp11.2 seems to be a more aggressive neoplasm than 6p21. The case with metastatic 6p21 tumour is the 4th case described in the English literature.

Introduction

MiT translocation renal cell carcinomas (TRCC) constitute a group of recently described rare kidney tumours. These tumours predominantly occur in younger patients with only about 25% affecting patients over 40 year of age (see Table 1). TRCC contains two main subgroups: Srigley et al. 2013 Tumours with translocation 6p21 [t (6;11)] have characteristic histopathological features and imunohistochemical properties and have been labelled “rosette forming HMB45 positive renal tumour” in addition to “TFEB RCC”. Hora et al. 2008 The second subgroup is composed of tumours with translocations involving Xp11.2 [t (X; 1 or X or 17)]. TRCC Xp11.2 is included in the 2004 WHO renal tumours classification already. In the ISUP (International Society of Urological Pathology) Vancouver classification of renal neoplasia Srigley et al. 2013 these tumours have been added as a new subgroup of RCC: “MiT family TRCC” with two subgroup – Xp11 TRCC and t (6;11) RCC.
Table 1

Review of literature about MiT TRCC since 2007

Author

Year

No of patients

Age

Sex

Size

Staging (at presentation/maximal by follow-up)

Surgery

Oncological therapy

Survival

Together

TRCC

Average

Range

Over 40

F:M

 

I

II

III

IV

PNE/NE

Xp11.2

6p21

Total

%

 

average, in mm

T1N0M0

T2N0M0

T3N0M0, T1-3N1M0

T4NXM0, TXN2M0, TXNXM1

 

Argani

2007

28

28

0

37.2

22 - 78

7

25.0%

22 : 6

6.8

9

3

2

14

UK

in 1 case, imuno- and RT

6:3 malignant vs bening course

Rais-Bahrami

2007

1

1

 

6

NA

0

0.0%

0 : 1

1.5

1

   

0/1

TKI, progression, death in 8 ms

generalisation 17 ys later

LaGrande

2007

1

1

 

63

NA

1

100.0%

1 : 0

3

1

     

2 ys without sign of recurrence

Franzini

2007

1

1

 

79

NA

1

100.0%

0 : 1

12

  

1

  

none

metastases in 1 m

Hora

2008

2

2

0

57

34-80

1

50.0%

1:1

46

1

 

1

  

none

one died 1 mfor generalisation

Camparo

2008

3423

29

2

24.6

0.9-64

3

9.7%

18:13

69

12

2

7

10

4/27

 

FU 29.5 ms, 21 NoR, 5 died, 3 metastases, 2 lost for FU

Hora

2009

15000

0

3

28.3

22-39

0

0.0%

2:01

62

2

1

  

2/1

none

no recurrence

Suárez-Vilela

2009

1

0

1

22.0

22

0

0.0%

0 : 1

large

 

1

  

0/1

 

no recurrence

Koie

2009

1

1

 

28.0

NA

0

0.0%

0 : 1

85

 

1

  

0/1

excision of local recurrence, cytokins

died in 24 ms

Armah

2009

1

1

 

26.0

NA

0

0.0%

1 : 0

75

 

1

  

1/0

none

pregnant, 27 ms without recurrence

Kuroda

2010

1

1

 

73.0

 

1

100.0%

1 : 0

20

1

     

Unknown

Jing

2010

1

1

 

12.0

NA

0

0.0%

0 : 1

60

 

1

   

Ch, RT

Alive in 17 ms

Choueiri

2010

15

15

 

41.0

18-65

UK

UK

12:3

UK

2

1

8

8

0/12

VEGF-targeted therapy

 

Ishihara

2011

1

 

1

45.0

NA

1

100.0%

0 : 1

70

   

1

0/1

ChT, RT, temsirolimus

in 8 ms generalisation

Liu

2011

1

1

 

27.0

NA

0

0.0%

1 : 0

100

   

1

0/1

metastasectomy, gemcitabin, sunitinib

partial response to sunitinib

Nelius

2011

1

1

 

19.0

NA

0

0.0%

0 : 1

115

   

1

1/0

ChT, sorafenib, temsirolimus, bavacizumab, RT

died in 3 ms

Numakura

2011

1

1

 

43.0

NA

1

100.0%

1 : 0

100

  

1

 

1/0

sunitinib - PR for over 3years

lung metatases 2 ys from surgery

Kato

2011

1

1

0

18.0

18

0

0.0%

0:1

41

1

   

0/1

none

UK

Klatte

2012

848

2

0

NA

5 and 42

1

50.0%

1 : 1

100

0

1

0

1

0/2

dendritics cells and interferon-alfa-2a (CR)

4.5 and 8 ms

Morii

2012

1

1

0

38.0

38

0

0.0%

1 : 0

75

0

0

0

1

1/0

imunotherapy, sunitinib, sorafenib, mTOR I

died in 16 ms

Rao

2012

7

0

7

30.6

21-37

0

0.0%

4 : 3

51

5

2

0

0

UK

none

NED in any case

Inamura

2012

200

0

3

47.0

37-57

2

66.7%

0:3

UK

UK

UK

UK

UK

UK

 

one aggresive course

Arnoux

2012

170

4

0

UK

UK

4

100.0%

UK

UK

0

0

1

3

4/0

UK

one died, 3 others progression

Dang

2012

9

9

0

29.6

18-45

1

11.1%

3:6

58

UK

UK

UK

UK

5-Mar

ChT 4 cases, RT 2 cases, 2 excision of retroperitoneal recurrence

2 died, 1 metastatic disease, 2 local recurrence

Komai

2013

443

7

0

42.0

15-59

5

71.4%

3:4

83

3 (Hora et al. 2008)

1 (0)

0 Srigley et al. (2013)

2 Klatte et al. (2012)

0/7

UK

5 of 7 (71.4%) generalisation

Gaillot-Durand

2013

92

2

0

UK

UK

UK

UK

UK

UK

UK

UK

UK

UK

UK

UK

UK

Together

 

20255

110

17

  

29

22.8%

  

35

14

21

40

   
   

127

      

32%

13%

19%

36%

   

Papers dealing with TRCCs have been published mostly by pathologists and geneticists. It is difficult and time consuming to get clinically relevant data useful for daily urological practice. We present 10 cases of TRCC collected from the whole Czech Republic (10 million of inhabitants) focusing on data important from to point of view of practicing urologists.

Material and methods

During 2001 to 2012, 1653 kidney tumours were surgically treated at the urological department of the main author. Eight of them were TRCC (0.48%). Two more cases were identified in the tumour registry of the Department of Pathology, Faculty Hospital, Pilsen, CZ. The registry includes over 16000 cases of renal tumours, of which a significant component is international consult cases. Due to easy access to clinical data including CT and to avoid ethical problems with approving the study in different countries, only cases from CZ were included. These ten cases are presented in detail. Five cases have previously been published Hora et al. 2008; Hora et al. 2009. Extended follow-up information is provided for these cases in this paper. These cases are: two TRCC Xp.11 (in Table 2 cases 2 and 5) Hora et al. 2008 and three TFEB TRCC (in Table 2 cases 1, 3, 4) Hora et al. 2009. The morphological diagnosis was supported by immunohistochemical examination. In 1 of 4 cases of Xp11.2 TRCC, morphological and immunohistochemical results were extended by FISH analysis of TFE3 break. See Table 3. In one case, the diagnosis was verified. The other 4 cases were not analysable due to low quality of DNA. Among 4 cases of 6p21, three were morphological and immunohistochemical analysis supported by FISH and RT PCR (reverse transcription polymerase chain reaction) analysis. The presence of the translocation t (6;11) (Alpha-TFEB) was confirmed in these 3 analysed cases. In one case (percutaneous biopsy only), the diagnosis was established without molecular genetic confirmation, i.e. based exclusively on morphology and results of immunohistochemistry.
Table 2

Results

No

Age

Sex

Date of surgery

Side

Type of surgery

Note

AE

LAE

Size of tumour (mm)

Staging

Grading by Fuhrmann

Follow-up in months

Both TRCCs

TRCC Xp11.2

TRCC 6p21

pT

cN

cM

Stage at diagnosis

Stage at the last follow-up

10

34.5

34.5

 

F

1/2/2013

L

Biopsy under CT

T3aN2M1 - metastasis to liver, pubic bone, cisplatina and temsirolimus no effect

0

0

96

3a

2

1

4

4

UK

8

9

77.6

 

77.6

F

10/3/2012

L

ONE, AE, LND

Cytoreductive NE of bulky tumour (1850 g), lung metastases

1

1

165

3a

c1p0

p1*

3

4

3

3

8

75.3

75.3

 

F

21.11 (November). 2012

R

OR

 

0

0

33

1a

0

0

1

0

3

7

7

42.3

42.3

 

M

1/1/2011

L

ONE

Multiple skeletal metastases, liver, lung

0

0

40

3a

1

1

4

4

3

8

6

60.2

60.2

 

F

3/2/2011

L

LNE

 

0

0

83

1b

0

0

1

0

3

27

5

34.9

34.9

 

F

1/10/2008

L

OR

Followed like a cystic renal leasion, control MRI Bosniak IV, published formerly Hora et al. (2008)

0

0

32

1a

0

0

1

0

3

64

4

24.4

 

24.4

F

2/23/2007

R

ONE

Published formerly Hora et al. (2009)

0

0

128

3a

0

0

3

0

1

76

3

39.3

 

39.3

F

6/11/2007

R

OR

Published formerly Hora et al. (2009)

0

0

10

1a

0

0

1

0

1

47

2

80.3

80.3

 

M

28 Dec 2007

L

ONE

Published formerly Hora et al. (2008)

0

0

130

3a

0

0

3

3

3

1

1

21.4

 

21.4

M

5/1/2005

R

ONE

Published formerly Hora et al. (2009)

0

0

40

1a

0

0

1

0

1

92

 

49.0

54.6

40.7

average

     

75.7

      

33.2

 
 

22.4

20.3

25.8

STDEV.S

     

52.4

      

34.1

 
 

21.4

34.5

21.4

MIN

     

10.0

      

0.6

 
 

80.3

80.3

77.6

MAX

     

165.0

      

92.4

 
 

40.8

51.2

31.9

MEDIAN

              

Notes, abbreviations: Black windows – the patient died due to tumour.

AE – adrenalectomy, ONE – open nephrectomy, LNE - laparoscopic NE, OR – open resection, LND lymph node dissection, UK unknown, STDE.S – standard deviation, MIN – minimal value, MAX maximal value, NA – DNA from specimen not analysable due to low quality, ND – not done, pos. – positive, TRCC Translocation renal cell carcinoma.

Cases 1, 9 and 10 see Figures 1, 2 and 3.

Table 3

Types of translocation renal cell carcinoma Xp11.2 Hora et al. ( 2008 )

Translocation

Fusion of genes

t (X;1) (p11.2; q21)

PRCC and TFE3

t (X;1) (p11.2; p34)

PSF and TFE3

t (X;17) (p11.2; q25)

ASPL (known as RCC17 or ASPSCR1 as well) and TFE3

t (X;17) (p11.2; q23)

CLTC (Clathrine) and TFE3

inv (X) (p11.2; q12)

NonO (p54nrb) a TFE3

T (X;3) (p11.2; q23)

Unknown

Results

The results are summarised in the Table 2. Selected cases, see Figures 1, 2 and 3. Based on these, we can conclude that TRCCs were more common in females (70%). Patient with TRCC type 6p21 were younger than those with Xp11.2 TRCC (average 40.7 ± 25.8 vs. 54.6 ± 20.3 years, median 31.9 vs. 51.2). The biological behaviour of the two main group of MiT TRCC is probably different. Type Xp11.2 TRCC is a more aggressive neoplasm with (malignant course in 3/6 cases – 50%). In four patients with 6p21 TRCC, one (25%) died due to generalisation.
Figure 1

Dissected specimen at operation: woman, 75-year-old, a tumour of the right kidney. In table case No. 5. Tumour was on CT spheroid, 34 mm in maximal diameter, relatively homogenous, native density13-26HU, postcontrast density (venous phase) 15–43 HU. R was performed. A dissected specimen at operation: ochre-orange relatively homogenous spheroid tumour very different from clear renal cell carcinoma, maybe a little similar to any papillary RCC. Histological diagnosis: Translocation carcinoma Xp11.2, subtype ASPL-TFE3, verified genetically.

Figure 2

Woman 34-year-old, tumour of the left kidney (a) T3aN2M1, metastases to the paraaortal lymph nodes (b), left pubic bone (c), liver (d). Biopsy Translocation carcinoma Xp11.2. In Table 2 case No. 10.

Figure 3

Postcontrast CT: woman 78-year-old, left kidney tumour T3aN0M1 (metastases to lung), maximal diameter of tumour 172 mm. In Table 2, case No. 9. She underwent cytoreductive nephrectomy, specimen 1850 g. Histology TRCC 6p21. She died in 3 months. The forth case of aggressive TRCC 6p21 described in literature.

Discussion

MiT (F) (microphtalmia transcription factor) TRCCs most likely originate from the proximal tubule of the nephron. TRCCs are found predominantly in children and young adults, but are increasingly being recognized in adults. These tumours are characterized by the occurrence of recurrent chromosomal translocations, which result in disruption and fusion of either the TFE3 or TFEB genes, both members of the MiT family of basic helix-loop-helix/leucine-zipper transcription factor genes. Hence the name MiT translocation subgroup of RCCs. The MiT family (MiTF/TFE family) includes TFE3, TFEB, and also TFEC and MiTF transcription factors Srigley et al. 2013.

In clinical practise, we most commonly encounter TRCC TFE3 (divided in at least 6 subtypes, see Table 3) and TFEB type. We have identified 110 published cases of Xp11.2 TRCC in the English literature since 2007 to October 2013. See Table 1. The TFE3 gene is located on the X chromosome, locus p11.2. Translocations result in fusions of the TFE3 gene with several other genes which are listed in Table 3. Question The correct diagnosis is reached through a combination of histomorphology, immunohistochemistry and, in selected cases, molecular genetic studies. Since the translocations lead to overexpression of the TFE3 protein, immunohistochemical staining for TFE3 is widely used as a surrogate marker for the Xp11.2 translocation Klatte et al. 2012 Komai et al. Komai et al. 2009 described 7 cases of TRCC Xp11.2, 4 of them were diagnosed cytogenetically, 3 by immunohistochemistry only. Argani et al. 2007 confirmed genetically in group of 28 Xp11 TRCC only three. But Klatte et al. 2012 found in 17 TFE3 positive tumours Xp11.2 translocation in only 2 cases and they recommended making diagnosis of Xp.11.2 translocation RCC only genetically. Other group verified Xp11.2 by RT-PCR 2 cases in 6 TFE3 positive Gaillot-Durand et al. 2013 TFE3 negative tumours on immunohistochemistry can be FISH positive Rao et al. 2013. Our ten cases of TRCC were diagnosed by morphology and immunohistochemistry and only one verified genetically because the limitation of the quality of DNA. But we hope that modern reliable imunohistochemical staining can be very precise and more exact. Sensitivity and specificity of TFE3 tests are now being discussed by pathologists. Manual overnight labelling seems to be more precise than automated immunostainer with 30 min incubation Gaillot-Durand et al. 2013. However precise histological diagnosis verified by cytogenetic studies is missing in some cases and it can be source of bias of this study.

There is little information on clinically relevant data when dealing with patients with Xp11.2 TRCC. The tumours most commonly affect patient under 45 year up to 15% Kuroda et al. 2012. In some previous studies data on the radiological features (CT and MRI) of Xp11 TRCC have been presented. These have failed to identify any specific radiological features of this tumour Liu et al. 2013;Koo et al. 2013; Kato et al. 2011).

Xp11.2 RCC is a biologically aggressive neoplasm with a bad prognosis and previously published data suggest that the prognosis may be even worse in men over 50 years Kuroda et al. 2012; Arnoux et al. 2012. In our group of 6 cases, the ages were similar in patients with aggressive vs. with benign clinical course 52.4 vs. 56.8 years). The oncological therapy is reviewed in Table 1. The same oncological treatment protocols as for clear cell RCC have been used. No firm conclusions regarding the efficacy can be drawn based on this data. In our group, 2/3 of cases have a fatal course in relatively short follow-up.

The other (rare) but more commonly encountered MiT TRCC is “CC with t (6;11) translocation” (abbreviated “6p21 TRCC” or “t (6;11) TRCC”). Owing to the characteristic histopathological features and imunohistochemical properties of this tumour, it has been termed “osette-like forming, HMB45-positive renal tumour” Hora et al. 2009. An alternative designation/term that is used is “TFEB RCC”. This tumour harbours translocations involving the transcription factor EB (TFEB) and Alpha (the latter also known as MALATI). Genetically, TFEB RCC has been characterized by the fusion of the 5’ portion of Alpha, also known as MALATI (Genbank accession number AF203815), an intronless gene mapped at 11q12, with TFEB at 6p21 Inamura et al. 2012; Rao et al. 2012 with fewer than 30 cases reported to date Hora et al. 2009; Inamura et al. 2012; Rao et al. 2012; Camparo et al. 2008; Suarez-Vilela et al. 2011. First 11 cases were reviewed by Hora et al. 2009, cases published since 2007 are summarised in Table 1. The morphology of TFEB TRCC is distinctive and the diagnosis can be established based on a combination of histopathological examination in conjunction with immunohistochemistry. Role of molecular genetic studies is not as crucial as in Xp11.2 TRCC Hora et al. 2009. The malignant potential is low. Only three cases with aggressive behaviour have been published (approximately 10%) Inamura et al. 2012; Pecciarini et al. 2007; Ishihara et al. 2011. We add one more case with aggressive clinical course.

Conclusion

TRCCs were more common in females. Patient with 6p21 were younger than those with Xp11.2. Both types have definitive malignant potential, type Xp11.2 TRCC seem to be more aggressive neoplasm. Metastatic 6p21 is 4th case described in literature. From a clinical point of view, subclassification of TRCCs is of utmost clinical relevance.

Citations of articles used in the table: Argani et al. 2007 Rais-Bahrami et al. 2007 LaGrange et al. 2007 Franzini et al. 2007 Hora et al. 2008 Camparo et al. 2008 Hora et al. 2009 Suarez-Vilela et al. 2011, Koie et al. 2009 Armah et al. 2009 Kuroda et al. 2010 Choueiri et al. 2010 Ishihara et al. 2011 Liu et al. 2011 Nelius et al. 2011 Numakura et al. 2011, Kato et al. 2011 Klatte et al. 2012 Morii et al. 2012 Rao et al. 2012 Inamura et al. 2012 Arnoux et al. 2012 Komai et al. 2009 Gaillot-Durand et al. 2013.

Abbreviations

ChT: 

Chemotherapy

m (s): 

month(−s)

ImTOR: 

Inhibitors (temsirolimus everolimus)

NED: 

No evidence of disease

NoR: 

Nor recurrence or metastasis

PR: 

Partial response

RT: 

Radiotherapy

TKI: 

Tyrosine kinase inhibitors

Y (s): 

Year (−s).

Declarations

Acknowledgments

The work was supported by the Charles University Research Fund (project number P36), by Ministry of Health, Czech Republic - conceptual development of research organization (Faculty Hospital in Pilsen - FNPl, 00669806) and by grant IGA NT 12010–4. Thanks to Kateřina Kouřilová, MD for clinical data about patient No. 7, Dept. of Urology, Ostrava, CZ. 6th January 2014.

Authors’ Affiliations

(1)
Department of Urology Faculty Hospital
(2)
Department of Radiology
(3)
Department of Pathology, Faculty Hospital in Pilsen
(4)
Department of Pathology, National University Health System
(5)
Faculty of Medicine in Pilsen, Charles University in Prague
(6)
Department of Diagnostic Pathology, Kochi Red Cross Hospital

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© Hora et al.; licensee Springer. 2014

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