Familial biparental complete hydatidiform mole (CHM) – An update
👪 Represents 0.6 to 2.6% of CHM.
👪 Mutations of the NLRP7 on chr 19p and KHDC3L on chr 6p.
👪 Conventional CHM are usually of paternal origin (androgenic diploidy) , in contrast to familial CHM which are biparental .
👪 Autosomal recessive inheritance
👪 Patients present with recurrent complete hydatidiform mole.(CHM)
👪 Testing for p57 is negative similar to sporadic CHM.
Update WHO 2020 FGT.
Which of the following statements is false regarding Familial biparental complete hydatidiform mole (FBCHM)? A) This condition is inherited in an autosomal recessive manner. B) Germline mutations in NLRP7 are common C) Patients present with recurrent complete hydatidiform mole (CHM) D) P57 testing by Immunohistochemistry (IHC) is positive in cytotrophoblasts unlike complete mole.
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Correct answer is D: P57 testing by Immunohistochemistry (IHC) is negative in cytotrophoblasts complete mole both familial and sporadic CHM.
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Molecular progression of serous ovarian tumor. Borderline low and high grade
1.Molecular progression of low grade ovarian serous tumors. There is data to suggest progression from serous cystadenoma / cystadenofibroma with BRAF / KRAS mutations → SBT (serous borderline tumor) → LGSC (Low grade serous carcinoma) ; however, this is still controversial
2. Molecular progression of high grade serous ovarian tumors.
TP53 alterations in nearly all cases of high grade serous carcinoma
Germline, somatic or promoter hypermethylation (inactivation) of BRCA1 and BRCA2 in ~50% of cases
Pathogenesis of Type I and Type II serous ovarian cancers are entirely different. We will discuss the differences.
Most of the human cancers have a steady and known progression curve. Low grade cancers usually progress to high grade. This is not the case in ovarian cancers, high grade and low grade serous carcinoma have different pathogenesis.
PATHOGENESIS OF TYPE I SEROUS OVARIAN CANCERS – Progression
Type I ovarian carcinoma is associated with endometriosis, it progresses to serous borderline tumor which may transform to micropapillary serous carcinoma and then into low grade serous carcinoma. Molecular progression of ovarian cancers are shown below.
2.Serous borderline tumor
3. Micropapillary serous carcinoma
4. Low grade serous ovarian carcinoma
PATHOGENESIS OF TYPE II SEROUS OVARIAN CANCERS – Progression
Type II ovarian carcinoma is associated with simple inclusion cysts, it progresses to serous tubular intraepithelial carcinoma which may transform to high grade serous carcinoma.