Slide Seminarcpo-media.net/ECP/2019/Congress-Presentations/1347/-Unlicensed-S… · Slide Seminar...
Transcript of Slide Seminarcpo-media.net/ECP/2019/Congress-Presentations/1347/-Unlicensed-S… · Slide Seminar...
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Slide SeminarCongenital tumours and pseudo tumors
(10th of September)
Dr C.Fallet-Bianco, Neuropathologist
31st European Congress of Pathology7-11th of September 2019- Nice (France)
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Premature female baby, born at 34 wg
•Intrauterine growth retardation•Bilateral polydactyly•Urogenital malformations•Necrotizing enterocolitis
•Death at D14 (36 GW corrected term)
Clinical data
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Autopsy findings
HypertelorismPalate cleft
Hypoplastic hallux and overlapping toes
Bilateral post-axial hexadactylyRight syndactyly
HydrocolposVaginal atresia
Bladder
Hydronephrosis
Necrotizing enterocolitis
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Brain weight : 283 g
< 5th pc at 36 wg)
•Bilobed mass located in the area of infundibulum and mamillary bodies and developed in front of the ventral part of mesencephalon
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• The lesion was not detectedon US
US data were further analyzedand demonstrated the lesion
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On coronal sections
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Histological slide
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“Cortex”
Nodules mainly made up of immature cellsSmall tiny weakly myelinated fascicles
Differentiated neurons
In addition,Anoxo-ischemic encephalopathy→Diffuse and focal white matter
lesions→ Ponto-subicular necrosis
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Diagnosis ?
Etiology ??
Hypothalamic Hamartoblastoma
PALLISTER-HALL SYNDROME
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Hypothalamic Hamartomas(OMIM 241800)
• Hamartomas isolated in most cases, in children/adolescents
→ intractable epilepsy, gelastic seizures, → cognitive deficits → various endocrinal disturbances
• Hamartomas precociously identified in fetuses or neonates
→ various visceral and/or skeletal malformations→ part of different syndromes
→Hamartoblastoma (predominant immature component)
• Rare, benign, congenital lesions : malformations rather than “true” tumours
• Variable in size as well as in their relationship to hypothalamus
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5% of Hypothalamic Hamartomas : Pallister-Hall syndrome(OMIM : 146510)
• In addition to HHb, Pallister-Hall syndrome includes
→ Post-axial polydactyly
→ Uro-genital malformations hypospadias, in malevaginal atresia in female
→ Imperforate anus
→ Inconstantly, cleft palate, cardiac defects…
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CLINICAL DIFFERENTIAL DIAGNOSIS
• Smith-Lemli-Opitz syndrome (OMIM 270400)
• Holoprosencephaly-Polydactyly syndrome (OMIM264480)
• Oro-Facio-Digital syndrome type VI (OMIM 277170)
• Hydrolethalus syndrome (OMIM 236680)
• McKusick-Kaufman syndrome (OMIM 236700)
Conditions demonstrating clinical overlapping features
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• Heterozygous mutations of GLI3 gene ( 7p14)
• GLI3 : zinc-finger transcription factor → SHH signalling pathway
PALLISTER-HALL syndrome
autosomal dominant disorder
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• Some overlapping features with Pallister-Hall syndrome
→ Both : cranio-facial anomalies and polysyndactyly with an autosomal dominant mode of inheritance
→GCPS: pre axial polysyndactyly, no hamartoma
• Genotype/phenotype correlations
→GPCS : various anomalies translocations, larges deletions, exonic duplications, different mutations
→ Pallister-Hall : frameshift /non sense and splicing mutations
Mutations of GLI3
GREIG CephaloPolysyndactyly Syndrome(GCPS)
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Our case fulfils the clinical criteria of
PALLISTER-HALL SYNDROME
• Hypothalamic Hamartoblastoma
• Bilateral post-axial polysyndactyly
• Hydronephrosis
• Vaginal atresia –hydrocolpos
• Cleft palate
Heterozygous in the GLI3 gene for a sequence Variant C 3485G>A → not reported previously→ expected to be pathogenic
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Thank you!