ABSTRACT
The male Wolffian tumor is an extremely rare case in male patients. Here, we report a patient with such malignancy and successful radical surgical treatment at 15-year follow-up. The clinicopathological, immunohistochemical, and ultrastructural features are described. The differential diagnosis of this tumor in a male patient is discussed.
ABSTRACT
BACKGROUND: Gastrointestinal metastasis from primary breast carcinoma is uncommon, anorectal involvement is extremely rare. CASE PRESENTATION: We present the case of a 65-year old woman who underwent treatment for an infiltrative lobular carcinoma of the left breast with bone metastases and who developed metastasis of the rectum and anal canal 4 years later. CONCLUSIONS: A patient with a history of breast cancer, especially lobular carcinoma, presenting with anorectal symptoms, should raise the suspicion of metastatic disease.
Subject(s)
Breast Neoplasms/pathology , Carcinoma, Lobular/pathology , Rectal Neoplasms/secondary , Aged , Anus Neoplasms/secondary , Female , Humans , Neoplasm MetastasisABSTRACT
UNLABELLED: Sialuria, a rare inborn error of metabolism, was diagnosed in a healthy 12-year-old boy through whole exome sequencing. The patient had experienced mild delays of speech and motor development, as well as persistent hepatomegaly. Identification of the 8th individual with this disorder, prompted follow-up of the mother-son pair of patients diagnosed over 15years ago. Hepatomegaly was confirmed in the now 19-year-old son, but in the 46-year-old mother a clinically silent liver tumor was detected by ultrasound and MRI. The tumor was characterized as an intrahepatic cholangiocarcinoma (IHCC) and DNA analysis of both tumor and normal liver tissue confirmed the original GNE mutation. As the maternal grandmother in the latter family died at age 49years of a liver tumor, a retrospective study of the remaining pathology slides was conducted and confirmed it to have been an IHCC as well. The overall observation generated the hypothesis that sialuria may predispose to development of this form of liver cancer. As proof of sialuria in the grandmother could not be obtained, an alternate cause of IHCC cannot be ruled out. In a series of 102 patients with IHCC, not a single instance was found with the allosteric site mutation in the GNE gene. This confirms that sialuria is rare even in a selected group of patients, but does not invalidate the concern that sialuria may be a risk factor for IHCC. SYNOPSIS: Sialuria is a rare inborn error of metabolism characterized by excessive synthesis and urinary excretion of free sialic acid with only minimal clinical morbidity in early childhood, but may be a risk factor for intrahepatic cholangiocarcinoma in adulthood.
Subject(s)
Bile Duct Neoplasms/genetics , Cholangiocarcinoma/genetics , Liver Neoplasms/genetics , Rare Diseases/genetics , Sialic Acid Storage Disease/genetics , Bile Duct Neoplasms/diagnosis , Bile Duct Neoplasms/surgery , Child , Cholangiocarcinoma/diagnosis , Cholangiocarcinoma/surgery , Female , Hepatomegaly/diagnosis , Heterozygote , Humans , Liver/pathology , Liver Neoplasms/diagnosis , Liver Neoplasms/surgery , Male , Middle Aged , N-Acetylneuraminic Acid/biosynthesis , N-Acetylneuraminic Acid/urine , Rare Diseases/diagnosis , Retrospective Studies , Risk Factors , Sialic Acid Storage Disease/diagnosis , Exome Sequencing , Young AdultABSTRACT
BACKGROUND: Given the paucity of data regarding hormone dependency, it was the purpose of this study to screen for the presence of estrogen and progesterone receptors in uterine adenosarcoma (UAS). METHODS: One hundred and five centers were asked to screen their files for uterine adenosarcomas. A immunohistochemical estrogen and progesterone receptor determination was performed. RESULTS: Twenty-eight primary UAS were stained, including one cervical adenosarcoma. Sarcomatous overgrowth could be observed in eight. Furthermore, two cases of recurrent UAS, one only consisting of endometrial stromal sarcoma, were stained. UAS lacking sarcomatous overgrowth showed estrogen receptor positivity in 17/20 (85%) and 16/20 (80%) in the epithelial and sarcomatous component, respectively. Progesterone positivity was observed in 13/20 (65%) and 12/20 (60%) in the epithelial and sarcomatous component, respectively. In 18/20 (90%) of the cases, either the estrogen or the progesterone receptor stained positive in the sarcomatous component. UAS with sarcomatous overgrowth showed estrogen receptor positivity in 4/8 (50%) and 0/8 (0%) in the epithelial and sarcomatous component, respectively. Progesterone positivity was observed in 2/8 (25%) and 1/8 (12%) in the epithelial and sarcomatous component, respectively. The stromal component of both recurrent cases stained moderately positive for estrogen receptor whereas progesterone receptor was considered negative. CONCLUSION: The observation that the sarcomatous component of UAS without sarcomatous overgrowth frequently expresses hormone receptors might be of significant clinical importance.
