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glandular schwannoma

admin — 2010-07-23T13:14:03Z

Glandular differentiation is exceedingly rare in peripheral nerve sheath tumors.

Synopsis

schwannian component benign
glandular element

markedly atypical

Digital slide

pathxchange.org #4599

See also

schwannomas

References

An unusual case of glandular schwannoma. Chuang ST, Wang HL. Hum Pathol. 2007 Apr;38(4):673-7. PMID: #17258283#

17,20-desmolase deficiency

2010-07-22T17:44:02Z

Synopsis

ambiguous genitalia
in utero virilization of female fetus
fetal and maternal virilization associated with pregnancy
normal karyotype / normal female genotype
extremely high levels of pregnenolone, pregnenolone sulfate, progesterone d in association with low plasma levels of delta 4-androstenedione, testosterone, dehydroepiandrosterone and its sulfate
cortisol 17OH-progesterone and ACTH levels and plasma renin activity normal.
all the progestagens rise further after ACTH stimulation and were suppressed by dexamethasone.
all androgens faile to rise after ACTH: the responses of cortisol are normal.

References

17,20-desmolase deficiency in a female newborn, paradoxically virilized in utero. de Peretti E, Pradon M, Forest MG. J Steroid Biochem. 1984 Jan;20(1):455-8. PMID: #6323871#

pediatric ovarian tumors

2010-07-22T17:21:48Z

Types

benign tumors
malignant tumors (50%)

immature teratomas
malignant mixed germ cell tumors
juvenile granulosa cell tumors
dysgerminomas
endodermal sinus tumors
serous papillary cystadenocarcinomas
small cell carcinoma
anaplastic sex-cord tumor
undifferentiated sarcoma

References

Pediatric ovarian tumors: a review of 67 cases. Schultz KA, Sencer SF, Messinger Y, Neglia JP, Steiner ME. Pediatr Blood Cancer. 2005 Feb;44(2):167-73. PMID: #15490488#

neonatal bilateral ovarian sex cord stromal tumors

2010-07-22T17:16:46Z

References

Neonatal bilateral ovarian sex cord stromal tumors. Capito C, Flechtner I, Thibaud E, Emond S, Kalfa N, Jaubert F, Sarnacki S. Pediatr Blood Cancer. 2009 Mar;52(3):401-3. PMID: #19058207#

massive ovarian edema

2010-07-22T17:08:38Z

Synopsis

Non-neoplastic unilateral ovarian enlargement

may be complicated by frank torsion
presents as abdominal mass
may be associated with precocious puberty
possible response to torsion / ischemia (Nogales et al 1996)

Smooth surface
Thickened capsule
Edematous stroma

most marked centrally

Stromal edema with scattered follicles
Focal hemorrhage
Scattered luteinized cells
may be overlap with ovarian fibromatosis

more bilateral involvement
more dense collagen
less edema

See also

ovarian anomalies
ovarian lesions

streak ovary

2010-07-22T17:06:27Z

Synopsis

Flattened, tubular structure
nodule / plaque of ovarian type stroma but no oocytes
Cellular, fibrous stroma

similar to normal ovarian stroma
Absent follicles
No germ cells
may occasionally be present in fetal cases cf surgical specimens

See also

streak gonads

ovarian cysts in childhood

2010-07-22T17:03:30Z

Synopsis

epithelial neoplastic cysts rare in childhood
Most cystic neoplasms are teratomas
Most cystic structures are non-neoplastic cysts

follicular cysts
- includes theca-lutein and corpus luteum
- follicular features
- possible luteinization
endometriosis
- stroma also present
simple epithelial / unclassified
- simple cuboidal epithelium

See also

ovarian cysts

testicular sex cord-stromal tumors

2010-07-22T13:30:37Z

Types

testicular Leydig cell tumor
testicular Sertoli cell tumor
testicular juvenile granulosa cell tumor

See also

testicular tumors

familial dilated cardiomyopathy

2010-07-22T12:57:44Z

Genes involved

germline mutations in genes LMNA, MYH7, TNNT2, ACTC1, DES, MYBPC3, TPM1, TNNI3, ZASP, TAZ, PLN, TTR, LAMP2, SGCD, MTTL1, MTTQ, MTTH, MTTK, MTTS1, MTTS2, MTND1, MTND5, MTND6

See also

dilated cardiomyopathy

CDKN2A-A148T

2010-07-22T08:54:09Z

Pathology

The A148T variant of the CDKN2A gene is not associated with melanoma risk in the French and Italian populations. (#16614725#)

References

The A148T variant of the CDKN2A gene is not associated with melanoma risk in the French and Italian populations. Spica T, Portela M, Gérard B, Formicone F, Descamps V, Crickx B, Ollivaud L, Archimbaud A, Dupin N, Wolkenstein P, Vitoux D, Lebbe C, Saiag P, Basset-Seguin N, Fargnoli MC, Grandchamp B, Peris K, Soufir N; MELAN-COHORT. J Invest Dermatol. 2006 Jul;126(7):1657-60. PMID: #16614725# (Free)