Difference between revisions of "Case 96"

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{{hidden|Diagnosis|<center>[[Hereditary leiomyomatosis renal cell carcinoma syndrome associated renal cell carcinoma]]</center><br>
{{hidden|Diagnosis|<center>[[Hereditary leiomyomatosis renal cell carcinoma syndrome associated renal cell carcinoma]]</center><br>
Comment:<br>
Comment:<br>
The hyalinized papillae and prominent nucleoli with halos are characteristic.  These tumour often have a mixture of morphologic patterns as seen here (tubulocystic, papillary), and tend to have an aggressive behaviour. The definitive stain is FH (fumarate hydratase); it is lost in HLRCC. The IHC pattern doesn't fit [[papillary RCC]]; HLRCC is typically CK7 negative, CK20 negative and CD10 negative.
The hyalinized papillae and prominent nucleoli with halos are characteristic.  These tumours often have a mixture of morphologic patterns as seen here (tubulocystic, papillary), and tend to have an aggressive behaviour. The definitive stain is FH (fumarate hydratase); it is lost in HLRCC. The IHC pattern doesn't fit [[papillary RCC]]; HLRCC is typically CK7 negative, CK20 negative and CD10 negative.
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===Other cases===
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Latest revision as of 16:36, 1 October 2015

Provided clinical history

43 year old woman, renal mass

Site

Left kidney

Primary image

Hereditary leiomyomatosis and renal cell carcinoma associated RCC -- low mag.jpg
Low magnification. H&E stain.
Intermediate magnification 
Hereditary leiomyomatosis and renal cell carcinoma associated RCC -- intermed mag.jpg
Intermediate magnification. H&E stain.
High magnification 
Hereditary leiomyomatosis and renal cell carcinoma associated RCC -- high mag.jpg
High magnification. H&E stain.

Differential diagnosis

Differential diagnosis 
Papillary renal cell carcinoma, Unclassified renal cell carcinoma, HLRCC-associated renal cell carcinoma, Familial papillary renal cell carcinoma, Translocation carcinoma

Additional tests

More history

More history 
hysterectomy for fibroids when 33 years old, skin rash. Brother diagnosised with PaRCC when 41 years old - died 1 year later. Uncle died of RCC is 40s.

Ask a colleague

Ask a colleague 
Smells syndromic. I'd bet the "skin rash" is leiomyomas.

Stains

Alcian blue/PAS to Bilirubin
Test Result
Alcian blue/PAS
Alican blue pH 1.0
Alcian blue pH 2.5
Auramine
Bielchowsky
Bilirubin
Colloidal iron to Fontana-Masson
Test Result
Colloidal iron
Congo red
Cresyl violet
Dieterle
Diff Quik
Fontana-Masson
Gallyas to Gremelius
Test Result
Gallyas
Giemsa
GMS
Gomori's trichrome
Gram
Gremelius
JMS to Mucicarmine
Test Result
JMS
Jones
Kinyoun
Luxol fast blue
Masson trichrome
M-MAS
Movat
Mucicarmine
Oil red O to Prussian blue
Test Result
Oil red O
Orecein
PAS
PASD
PASF
PTAH
Prussian blue
Reticulin to Ziehl-Neelsen
Test Result
Reticulin
Sudan black B
Toluidine blue
Verhoeff
Von Kossa
Warthin-Starry
Ziehl-Neeslen

IHC

Alpha-1 AT to Cathepsin K
Test Result
alpha-1 AT
ACTH
AE1/AE1
alpha-fetoprotein
Alk-I
AMACR
AR
ATRX
Beta2-microglobulin
B72.3
Beta-catenin
BCL2
BCL6
BCLxL
C3 comp
CA9
Calcitonin
Calponin
Calretinin
CAM5.2
Cathepsin K
CD10 to Chromogranin
Test Result
CD10
CD117
CD138
CD15
CD1a
CD20
CD21
CD23
CD3
CD30
CD31
CD34
CD35
CD4
CD43
CD45 (LCA)
CD5
CD56
CD57
CD68
CD7
CD79a
CD8
CD99
CDX2
CEA-m
Chromogranin
CK17 to Glypican 3
Test Result
CK17
CK19
CK20
CK34betaE12
CK5/6
CK7
CMV
c-MYC
Cyclin D1
D2-40
Desmin
DOG1
EBV
EMA
ER and PR
Factor VIII
Factor XIIIa
Fascin
FH
FSH
Gastrin
GATA3
GCDFP-15 (BRST2)
GFAP
GH
Glucagon
Glypican-3
HBME-1 to IgM
Test Result
HBME-1
HBV core
HBV surface
H-caldesmon
HCG
Helicobacter
Hepatocyte
HER2/neu
HHV-8
HMB-45
HNF1beta
HPV
HSV-I
HSV-II
IDH-1
Inhibin
INI1 (BAF47)
Insulin
Kappa
Ki-67
Lambda
Leu 7
IgA
IgG
IgM
LH to PDGFR
Test Result
LH
LIN28
Lysozyme
mammoglobin
MAP2
MCV
Melanin A
MHC class I
MITF
MUM1
Myeloperoxidase
MYO D1
Myoglobin
Napsin
NF
NKX3.1
NSE
OCT3/4
p16
P501S
p53
p57
p63
Pankeratin
PAX2
PAX5
PAX8
PCNA
PDGFR
PLAP to WT1
Test Result
PLAP
PNL-2C
Prolactin
PSA
PSAP
RCC
S-100
SALL4
Smooth muscle actin
Somatostatin
STAT6
Synaptophysin
TdT
TFE3
TFEB
Thyroglobulin
Toxoplasma
TSH
TTF-1
Ubiquitin
UCHL1 (PGP9.5)
Ulex Europaeus
Vimentin
VIP
VZV
WT-1


Molecular testing

Chromosomal translocations
Translocations Chr 1-10
Test Result
t(1;13) PAX7-FKHR
t(2,13) PAX3-FKHR
t(8;14) MYC-IGH
t(9;22) BCR-ABL
t(9;22) CHN-EWS
Translocations Chr 11-13
Test Result
t(11;14) CCND1-IGH
t(11;22) EWS-WT1
t(11;22) FLI1-EWS
t(12;15) ETV6-NTRK3
t(12;16) FUS-ATF1
t(12;16) CHOP-TLS
t(12;22) EWS-ATF1
Translocations Chr 14-22
Test Result
t(14,18) IGH-BCL2
t(15;17) PML-RARA
t(16;21) FUS-ERG
t(17;22) COLA1-PDGFB
t(21;22) EWS-ERG
Translocations Chr X & Y
Test Result
t(X;1) PRCC-TFE3
t(X;17) TFE3-ASPL
t(X;18) SYT-SSX
Other molecular tests
Molecular tests (A-B)
Test Result
ALK sequencing
B cell clonality Southern / PCR
BCL2 PCR
BRAF sequencing
Molecular tests (C-H)
Test Result
EBV PCR
EGRF sequencing
H3F3A sequencing
HHV-8 PCR
Molecular tests (I-J)
Test Result
Identity testing PCR
IDH1/2 PCR
JAK2 V617F ARMS
Molecular tests (K-Z)
Test Result
KIT sequencing
LOH 1p/19q PCR
T cell clonality Southern / PCR


Diagnosis

Diagnosis 
Hereditary leiomyomatosis renal cell carcinoma syndrome associated renal cell carcinoma

Comment:
The hyalinized papillae and prominent nucleoli with halos are characteristic. These tumours often have a mixture of morphologic patterns as seen here (tubulocystic, papillary), and tend to have an aggressive behaviour. The definitive stain is FH (fumarate hydratase); it is lost in HLRCC. The IHC pattern doesn't fit papillary RCC; HLRCC is typically CK7 negative, CK20 negative and CD10 negative.


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