Discussion Myoepithelial tumors of soft tissue
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Transcript Discussion Myoepithelial tumors of soft tissue
Journal Reading
2004-10-15
(1)myoepithelial tumor of soft tissue
(2)neonatal intrahepatic cholestasis
R3陳志榮
Part I: myoepithelial tumors of soft tissue
Myoepithelial tumors of soft tissue
a clinicopathologic and
immunohistochemical study of 101 cases
with evaluation of prognostic parameters
Jason L. Hornick MD,PhD and Christopher D. M. Fletcher MD,FRCPath
Am J Surg Pathol.2003;27:1183-1196
Myoepithelial tumors of Soft
Tissue
Myoepitholiomas and mixed tumors of soft
tissue were recently recognized
Few case numbers:
(1)Kilpatrick SE,Hitchcock MG,Kraus MD et al. Am.J
Surg Pathol. 1997;21:13-22=>19 cases
(2)Michal M,Miettinen M,Virchows Arch.1999;434:393400.=>12 cases
Myoepithelial tumors of Soft
Tissue
Myoepithelioma and mixed tumor(61 cases)
=>tumor with benign cytomorphology or mild
cytologic atypia(low grade)
Myoepithelial carcinoma and malignant
mixed tumor(40 cases)
=>moderate to severe atypia(high-grade)
Clinical Findings
Male : female≒ 1:1(♂:53 cases;♀:48
cases )
Age:3 ~83 years with a peak in 3rd to 5th
decades (mean age:38 years)
Symptoms:painless or painful mass
Location:most common in limbs and limb
girdle.
Subcuits and deep soft tissue
Figure 1
Table 2
Macroscopic Features
Size: 0.7 to 20 cm (mean 4.7cm)
Well circumscribed mostly ,nodular or
lobulated
Firm or hard
Yellow/white to tan
Glistening ,myxoid or gelatinous cut surface
Few with necrosis (2 cases)
Microscopic Features
Well circumscribed or focal infiltration(43 cases)
Lobulated or mutinodular
Most frequently reticular growth pattern with
intersecting cords of in variable amount of
chondromyxoid(52 cases) or hyalinzed(14 cases)
stroma.
Hypercellular and lacked significant stromal
component(19 cases)
Microscopic Features
Parachordoma :large epitheloid cells with
eosinophilic to clear,variably vacuolated
cytoblasm and abundant hyalined or
chondromyxoid stroma.
Microscopic Features
Tumor cells: epithelioid, spindled ,
plasmacytoid, parachordoma,clear cells or
pleomorphic cells
Ductual differentiation(20%)
Metaplastic components:
cartilaginous, osseous, squamous(six cases)
or adipocytic(one case)
Microscopic Features
Spindle cell myoepithelioma
Pure plasmacytoid cell: plasmastoid
monomorphic adenoma or hyaline cell-rich
chondroid syringoma
Pure epithelioid cells
Myoepithelioma
Initailly,composed of spindled or plasmacytoid
cells demonstrating a solid growth pattern
Variable matrix:myxoid or hyalinized stroma
Different architectural patterns:reticular, trabecular.
Epithelioid or clear cells
Ductal differentiation=>mixed tumor category
Ps 5~10% ductal differentiation in
myoepithelioma
Immunohistochemical Finding
Keratins and S-100 protein:nearly all are
positivehalf
Calponin:nearly 86% (most sensitive
myogenic marker)
GFAP:46%
SMA:36%
Desmin:14%
CK14:32%
Myoepithelial tumors of Soft
Tissue
Treatment and Follow-up
Treatment:excision ; chemotherapy and
postoperative radiotherapy
64 patients were followed
(1)Benign or low-grade cytology:33 cases
=>Local recurrence(18%):6 cases
=>Metastasis:none
(2)Cytological malignant:31 cases
=>Local recurrence(42%):13 cases
=>Metastases(32%):10 cases
=>Died of metastatic tumor:4 cases
Criteria for myoepithelial
carcinoma of soft tissue
Not yet to be well established.
Moderate or severe cytologic atypia which
proved to be prognostically relevant.
Invasive growth pattern is insufficient
unlike the salivary counterpart.
=>microscopically infiltrative margins with
no local recurrence or metastasis.
Criteria for myoepithelial
carcinoma of soft tissue
Benign or morphologically low grade soft tissue
myoepitheliomas with 18% recurrence and none
metastases
Conclusion:
at least moderate cytologic atypia(prominent
nucleoli,vesicular or coarse chromatin,
pleomorphism) should warrant classification as
myoepithelial carcinoma with significant risk for
aggressive behavior and propensity for metastasis.
Differential Diagnosis
Mixed tumor
Extraskeletal myxoid chondrosarcoma.
Ossifying fibromyxoid tumor.
Leiomyoma
Schwannoma
Metastatic carcinoma
Metastatic melanoma
Proximal-type epithelioid sarcoma
Differential Diagnosis
Extraskeletal myxoid chondrosarcoma.:
(1)Multinodular growth pattern with interlacing
cords of spindled cells in myxoid or
chondromyxoid stroma.
(2)Lack intratumoral heterogeneity ,lack mixture of
epitheloid and spindle cells
(3)S-100 protein in minority
(4)Epithelial and myogenic markers are rarely
positive
Differential Diagnosis
Ossifying fibromyxoid tumor
(1)Lobulated proliferation of pale-staining ovoid to
round cells in cords or nests in myxoid or
hyalinized stroma with peripherical rim of
metaplastic bone.
(2)S-100 protein(+):70%
(3)Desmin(+):50%=>myoepithlioma generally
negative
(4)GFAP:rare=>myoepithelioma nearly half positive
Differential Diagnosis
Leiomyoma:
(1)Broader cigar-shapped nuclei
(2)Desmin:majority are positive
=>myoepithelioma rarely positive
(3)S-100 protein:less 5% positive
(4)GFAP:negative
(5)keratin:positive(40%)
Differential Diagnosis
Schawannoma:
(1)Alternating cellular zones with nuclear
palisading and hypocellular myxoid zone
with hyaline vessels.
(2)S-100 protein and GFAP: positive
(3)Lack epithelial and myogenic makers.
Differential Diagnosis
Metastatic carcinoma:
(1)Lack myxoid stroma and mutinodular architecture
(2)Immunoreactivity of S-100 protein,GFAP and
myogenic markers supports a diagnosis of
myoepithlial carcinoma
Metastatic melanoma:
(1)Myxoid storma is unusual
(2)GFAP,keratin and myogenic markers
exceptionally rare
Differential Diagnosis
Proximal-type epithelioid sarcoma:
(1)Morphologic uniformity and rhabdoid
cytomorphology is common.
(2)Positivity for EMA and keratins.
(3)Negativity for S-100 protein, GFAP,
myogenic markers.
PartII:Neonatal Intrahepatic
Cholestasis
Neonatal intrahepatic cholestasis caused
by citrin deficiency:severe hepatic
dysfunction in an infant requiring liver
transplanation
~Eur J Pediatr (2002) 161:609-613~
NICCD
Neonatal intrahepatic cholestasis caused by citrin
deficiency(NICCD)
Citrullinaemia:
(1)classical (CTLN1):neonatal/infantile onset
autosominal recessive (chromosome9q34)
argininosuccinate synthetase deficiency
(2)adult-onset type 2 (CTLN2) :late onset(11~79y/o)
SLC25A13gene mutation (chromosome7q21.3)
(3)NICCD: SLC25A13gene mutation
NICCD
(1) SLC25A13 gene: Calcium-binding
mitochondrial protein,designated citrin
(2)Citrin :aspartate glutamate carrier
(3)malate-aspartate NADH shuttle,urea
synthesis and gluconeogenesis
CTLN2
NICCD
CTLN1
Hepatomegaly
ALT
Pathology study:normal
=>mild fat accumulation,
interface hepatitis,mild
periportal fibrosis
NICCD
5 cases:
(1)One case received liver transplantation at
10 months of age
(2)Four cases:spontaneous improved by the
ages of 5-7 months
NICCD
About half of NICCD patients are detected on
newborn mass screening ( galactose ,
phenylalanine, methionine)
Newborn neonatal screening for homozygote with
SLC25A13 mutation:
1/10000~1/38000 in East Asia
~Effects of cirtirin deficiency in the perinatal period:fesibility of newborn
mass screening for citrin deficiency
Pediatr Res 56:608-614,2004
NICCD
Characteristic clinical featrues
(1)White colored or yellow-white colored stools
(2)poor body weight gain until 1 month after birth
(3)direct bilirubin,total bile acid,ALP,r-glutamyl
transpepidase,
(4)citrulline, tyrosine,methionine,threonine/serine
ration,
(5)branched-chain amino acid/aromatic amino acid
ratio,
NICCD
Characteristic clinical featrues
(6) vitamin K-dependent coagulation factor
(7)mild hyperammonemia
(8) alpha-fetoprotein(not seen in CTLN2)
(9)hypoglycameia
NICCD
histological feature
Very rare report
Variable pathological features:
=>minimal histological change,fatty change to
cirrhosis and chronic hepatitis
=>case 1(accept liver transplantation)
diffuse fatty changes of hepatocytes, cholestasis in
lobules with proliferation of bile ducts,portal to
portal bridging fibrosis and pseudolobules.
NICCD
conclusion
SLC25A13 gene mutationcitrin deficiency
hypercitrullinameia intrahepatic cholestasis
in infancy
Often self-limiting and spontaneous
disappear:maturation of hepatocytes and/or
compensations of other mitochondrial carriers
Compensatory failure is likely to occurred with
resultant relapse of the disease in adulthood(after
10 or more years)
NICCD
conclusion
Severe phenotype of NICCD may not be
that rare ,therefore patients with NICCD
should be followed up carefully,even during
infancy.
THE END
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