Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: a single nucleotide polymorphism array analysis.
Females with 46,XY complete gonadal dysgenesis are at significant risk of developing germ cell tumors, mostly gonadoblastomas. We present here the case of 2 half-sisters, sharing the same father, diagnosed with 46,XY complete gonadal dysgenesis. The 1st sister developed a gonadoblastoma and an invasive dysgerminoma, whereas the 2nd sister developed a gonadoblastoma and an invasive choriocarcinoma within the same gonad. No SRY mutation, chromosome abnormalities, or mosaicism were detected in blood. Single nucleotide polymorphism (SNP) profiling of the choriocarcinoma revealed a complex hyperdiploid pattern with gains of 1 to 4 copies of material from several autosomes, as well as the loss of the Y chromosome and a homozygous SNP profile without copy number change for the X chromosome. Our results are in agreement with the recurrent chromosome gains and losses previously published in germ cell tumors, and the coexistence of both tumors within the same gonad suggests that choriocarcinomas may derive from gonadoblastomas.
Département de Pathologie et Biologie Cellulaire, Université de Montréal, 2900 Boul, Edouard-Montpetit, Montréal, Québec H3T1J4, Canada.
Mélanie
M
Beaulieu Bergeron
Dorothée Bouron-Dal
DB
Soglio
Antonio
A
Maietta
Jean-Christophe
JC
Fournet
Miriam
M
Blumenkrantz
Pierre
P
Brochu
Nicole
N
Lemieux
D000293:Adolescent; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D017024:Chemotherapy, Adjuvant; D002648:Child; D031954:Choriocarcinoma, Non-gestational / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D004407:Dysgerminoma / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D017809:Fatal Outcome; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D018238:Gonadoblastoma / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009378:Neoplasms, Multiple Primary; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D035781:Siblings; D032681:Spectral Karyotyping; D014594:Uterine Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D055815:Young Adult