Here we see enlarged villi with myxoid stroma. The cystic structures on the gross correspond to this massive, cavernous cystic structure on the left
Hint: some might even call this a cistern.
The stem villus vessel shows luminal obliteration and associated fibrointimal proliferation, consistent with late stages of thrombosis.
p57 highlights the cytotrophoblastic cells located at the periphery of the abnormally large villi. The remaining stromal cells within the villi are completely negative.
Differential?
This is an example of placental mesenchymal dysplasia (PMD). It is a rare form of abnormal placental development. It arises from paternally expressed, maternally imprinted fetal growth-promoting genes (IGF2) and maternally expressed, paternally imprinted genes (CDKN1C).
What does CDKN1C encode?
p57. Essentially the fetal tissues are a mosaic of two genotypes: one consisting of a normal, biparentally inherited set of chromosomes, and another with only paternally inherited chromosomes. The resulting diandric diploidy leads to an imbalance of gene expression.
The overexpression of IGF-2 and underexpression of CDKN1C are located at the 11p15.5 locus. What is 11p15.5 implicated in?
Beckwith-Wiedemann. Approximately 20% of cases are associated with PMD.
Clinching the diagnosis of PMD is difficult. The large stem villus cisterns (as opposed to terminal), enlarged villi, hypervascularity of the villi, stem vessel obliteration, and chorionic plate vessel dilation all need to correlate with clinical features and molecular testing.
Additionally, p57 should not stain the stromal cells of the villi.
First post in a long while! It's been a little busy lately :)
This case was presented as an interesting case by our very own @DrMedeirosPath and Dr. Dan Manzoor. I thought this case might scratch that "rare entities" itch that all #pathtwitter loves.
1/ In 1920, Dr. Otto Warburg wrote the best grant request ever: "Request. I need 10,000 Mark."
2/
The request was granted and in 1924 he decided to thinly cut and mount slices of rat tumor in Ringer solution. He then measured lactic acid (lactate) production.
3/ Why? Well in 1863, Pasteur showed that a hypoxic environment induced the fermentation of sugars. Warburg essentially wanted to determine how tumors respire. It would follow that in a hypoxic environment, tumors would produce lactate.
Yesterday was a fun day on #GUPath. PGY1s, how many of these renal cell tumors can you name?
The oncocytic one is strongly and diffusely CK7+. What does this help differentiate it from?
Oncocytoma. Both chromophobe and oncocytoma are associated with Birt-Hogg-Dubé syndrome, an AD syndrome where you get papular fibrofolliculomas of face, neck, and trunk as well as multiple oncocytic RCCs. It is associated with 17p12q11 abnormality involving folliculin protein.
76 year old female with one-month history of right lower quadrant abdominal pain. CT shows acute appendicitis.
Diagnosis (adenoca = adenocarcinoma)
Answer: Goblet cell adenocarcinoma (GCA) is a rare and distinctive neoplasm of the appendix that accounts for <5% of all appendiceal neoplasms. Thought to be derived from the intestinal crypt base stem cells.