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1.
Int J Surg Pathol ; 31(1): 92-97, 2023 Feb.
Article in English | MEDLINE | ID: mdl-35466733

ABSTRACT

Peutz-Jeghers syndrome is an autosomal dominant condition characterized by the association of hamartomatous polyps in the digestive tract, mucocutaneous pigmentation, family history, and infrequently tumors of the female genital tract with one of the most characteristic being the gastric-type endocervical adenocarcinoma. We present the case of a 75-year-old woman with a history of gastrointestinal polyps and cancer of the pancreas and breast, diagnosed with Peutz-Jeghers syndrome, who clinically debuted with a primary adnexal tumor. However, on histologic examination it was found to be a gastric-phenotype primary mucinous carcinoma tubal in origin, associated to tubal mucinous metaplasia and secondary ovarian involvement. One of her daughters had a confirmed genetic diagnosis of Peutz-Jeghers syndrome and presented with mucinous metaplasia of the tubal mucosa in the pathological study of a prophylactic hysterectomy specimen. Another of her daughters died from an ovarian juvenile granulosa cell tumor, she did not have a genetic diagnosis of Peutz-Jeghers syndrome. This case intends to highlight the rarity of gastrointestinal-type mucinous carcinomas of the ovary and fallopian tube (similar to gastric-type endocervical adenocarcinoma) in Peutz-Jeghers syndrome and emphasize the importance of genetic counseling of these patients as well as the adequate sampling of surgical specimens for early detection and treatment.


Subject(s)
Adenocarcinoma, Mucinous , Adenocarcinoma , Peutz-Jeghers Syndrome , Stomach Neoplasms , Uterine Cervical Neoplasms , Humans , Female , Peutz-Jeghers Syndrome/complications , Peutz-Jeghers Syndrome/diagnosis , Peutz-Jeghers Syndrome/genetics , Fallopian Tubes/pathology , Ovary/pathology , Adenocarcinoma, Mucinous/complications , Adenocarcinoma, Mucinous/diagnosis , Adenocarcinoma, Mucinous/pathology , Adenocarcinoma/pathology , Uterine Cervical Neoplasms/pathology , Metaplasia
2.
Congenit Anom (Kyoto) ; 62(6): 248-253, 2022 Nov.
Article in English | MEDLINE | ID: mdl-35941838

ABSTRACT

Congenital cytomegalovirus (CMV) infection can cause severe neurological sequelae or even fetal death. We present a 17-year-old pregnant woman with fetal CMV infection, leading to voluntary termination of pregnancy. Fetopsy demonstrated a brainstem hemorrhage and focal polymicrogyria. CMV inclusions were observed in the lung, liver, thyroid, pancreas, kidneys, adrenal, placenta, and central nervous system. Intracranial hemorrhage is a rare finding in the context of congenital CMV infection, with isolated brainstem hemorrhage being an exceptional form of presentation. Polymicrogyria appears to be a more frequent finding, although its actual incidence is unknown. Future studies are needed to determine the causal association.


Subject(s)
Cytomegalovirus Infections , Polymicrogyria , Pregnancy Complications, Infectious , Pregnancy , Female , Humans , Adolescent , Polymicrogyria/diagnosis , Polymicrogyria/complications , Cytomegalovirus Infections/complications , Cytomegalovirus Infections/diagnosis , Cytomegalovirus Infections/congenital , Brain Stem , Hemorrhage/complications
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