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International Journal of Gynecological... Feb 2024Our aim was to assess the molecular subtype(s) and perform a detailed morphologic review of tumors diagnosed as carcinosarcoma in a population-based cohort.
INTRODUCTION
Our aim was to assess the molecular subtype(s) and perform a detailed morphologic review of tumors diagnosed as carcinosarcoma in a population-based cohort.
METHODS
Forty-one carcinosarcomas were identified from a cohort of 973 endometrial carcinomas diagnosed in 2016. We assessed immunostaining and sequencing data and undertook expert pathology reviews of these cases as well as all subsequently diagnosed (post-2016) carcinosarcomas of no specific molecular profile (NSMP) molecular subtype (n=3) from our institutions.
RESULTS
In the 2016 cohort, 37 of the 41 carcinosarcomas (91.2%) were p53abn, 2 (4.9%) were NSMP, and 1 each (2.4%) were POLEmut and mismatch repair deficiency molecular subtypes, respectively. Of the 4 non-p53abn tumors on review, both NSMP tumors were corded and hyalinized (CHEC) pattern endometrioid carcinoma, the mismatch repair deficiency tumor was a grade 1 endometrioid carcinoma with reactive stromal proliferation, and the POLEmut tumor was grade 3 endometrioid carcinoma with spindle cell growth, that is, none were confirmed to be carcinosarcoma on review. We found 11 additional cases among the 37 p53abn tumors that were not confirmed to be carcinosarcoma on the review (3 undifferentiated or dedifferentiated carcinomas, 5 carcinomas with CHEC features, 2 carcinomas showing prominent reactive spindle cell stroma, and 1 adenosarcoma). In the review of institutional cases reported as NSMP carcinosarcoma after 2016, 3 were identified (1 adenosarcoma and 2 mesonephric-like adenocarcinoma on review).
CONCLUSION
In this series, all confirmed endometrial carcinosarcomas were p53abn. The finding of any other molecular subtype in a carcinosarcoma warrants pathology review to exclude mimics.
PubMed: 38303106
DOI: 10.1097/PGP.0000000000001010 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Feb 2024
Topics: Female; Humans; Urinary Bladder; Endometriosis; Adenocarcinoma; Urinary Bladder Neoplasms
PubMed: 38281795
DOI: 10.3760/cma.j.cn112151-20231007-00232 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Feb 2024
Topics: Female; Humans; Endodermal Sinus Tumor; Adenocarcinoma; Uterus; Biomarkers, Tumor
PubMed: 38281794
DOI: 10.3760/cma.j.cn112151-20231016-00272 -
Gynecologic Oncology Mar 2024Mesonephric (MA) and mesonephric-like (MLA) adenocarcinomas are rare cancers, and data on clinical behavior and response to therapy are limited. We sought to report...
OBJECTIVES
Mesonephric (MA) and mesonephric-like (MLA) adenocarcinomas are rare cancers, and data on clinical behavior and response to therapy are limited. We sought to report molecular features, treatment, and outcomes of MA/MLA from a single institution.
METHODS
Patients with MA (cervix) or MLA (uterus, ovary, other) treated at Memorial Sloan Kettering Cancer Center (MSK) from 1/2008-12/2021 underwent pathologic re-review. For patients with initial treatment at MSK, progression-free survival (PFS1) was calculated as time from initial surgery to progression or death; second PFS (PFS2) was calculated as time from start of treatment for recurrence to subsequent progression or death. Overall survival (OS) was calculated for all patients. Images were retrospectively reviewed to determine treatment response. Somatic genetic alterations were assessed by clinical tumor-normal sequencing (MSK-Integrated Mutation Profiling of Actionable Cancer Targets [MSK-IMPACT]).
RESULTS
Of 81 patients with confirmed gynecologic MA/MLA, 36 received initial treatment at MSK. Sites of origin included cervix (n = 9, 11%), uterus (n = 42, 52%), ovary (n = 28, 35%), and other (n = 2, 2%). Of the 36 patients who received initial treatment at MSK, 20 (56%) recurred; median PFS1 was 33 months (95% CI: 17-not evaluable), median PFS2 was 8.3 months (95% CI: 6.9-14), and median OS was 87 months (95% CI: 58.2-not evaluable). Twenty-six of the 36 patients underwent MSK-IMPACT testing, and 25 (96%) harbored MAPK pathway alterations.
CONCLUSION
Most patients diagnosed with early-stage disease ultimately recurred. Somatic MAPK signaling pathway mutations appear to be highly prevalent in MA/MLA, and therapeutics that target this pathway are worthy of further study.
Topics: Humans; Female; Retrospective Studies; Adenocarcinoma; Mutation; Ovary; Cervix Uteri
PubMed: 38246044
DOI: 10.1016/j.ygyno.2024.01.015 -
Asian Journal of Surgery Mar 2024
Topics: Female; Humans; Endometrium; Adenocarcinoma
PubMed: 38182512
DOI: 10.1016/j.asjsur.2023.12.056 -
Histopathology May 2024
The first evidence of mismatch repair deficiency in mesonephric-like adenocarcinoma of the endometrium: clinicopathological and molecular features of a case emphasising a possible endometrioid carcinogenesis.
Topics: Female; Humans; Adenocarcinoma; Endometrium; Brain Neoplasms; Neoplastic Syndromes, Hereditary; Carcinoma, Endometrioid; Endometrial Neoplasms; Colorectal Neoplasms
PubMed: 38173293
DOI: 10.1111/his.15136 -
Frontiers in Oncology 2023We performed clinical treatment, histopathology, immunohistochemistry and molecular analyses. To compare with the published literature and have a reference overview. A...
We performed clinical treatment, histopathology, immunohistochemistry and molecular analyses. To compare with the published literature and have a reference overview. A 57-year-old woman and a 77-year-old woman presented with mesonephric-like adenocarcinoma of endometrium at an early clinical stage. The former had no deep myometrial infiltration and no regional lymph node involvement. The latter had deep myometrial infiltration, presence of LVSI and no regional lymph node involvement. Both of the tumor cells were positive for PAX8, GATA-3,CD-10,TTF-1,AE1/AEs,Ki67,P53 and P16 in immunohistochemical staining (IHC)Test. Primary tumors were examined for gene mutations by next generation sequencing. The former was identified KRAS mutation. The latter had KRAS,PIKCA and PPP2R1A mutations. To our knowledge, it is the first time that PPP2R1A(protein phosphatase 2,regulatory subunit A,α) mutation in MLA is reported in English literature.
PubMed: 38111534
DOI: 10.3389/fonc.2023.1212648 -
Clinical Epigenetics Dec 2023In 1990, David Barker proposed that prenatal nutrition is directly linked to adult cardiovascular disease. Since then, the relationship between adult cardiovascular...
BACKGROUND
In 1990, David Barker proposed that prenatal nutrition is directly linked to adult cardiovascular disease. Since then, the relationship between adult cardiovascular risk, metabolic syndrome and birth weight has been widely documented. Here, we used the TruSeq Methyl Capture EPIC platform to compare the methylation patterns in cord blood from large for gestational age (LGA) vs adequate for gestational age (AGA) newborns from the LARGAN cohort.
RESULTS
We found 1672 differentially methylated CpGs (DMCs) with a nominal p < 0.05 and 48 differentially methylated regions (DMRs) with a corrected p < 0.05 between the LGA and AGA groups. A systems biology approach identified several biological processes significantly enriched with genes in association with DMCs with FDR < 0.05, including regulation of transcription, regulation of epinephrine secretion, norepinephrine biosynthesis, receptor transactivation, forebrain regionalization and several terms related to kidney and cardiovascular development. Gene ontology analysis of the genes in association with the 48 DMRs identified several significantly enriched biological processes related to kidney development, including mesonephric duct development and nephron tubule development. Furthermore, our dataset identified several DNA methylation markers enriched in gene networks involved in biological pathways and rare diseases of the cardiovascular system, kidneys, and metabolism.
CONCLUSIONS
Our study identified several DMCs/DMRs in association with fetal overgrowth. The use of cord blood as a material for the identification of DNA methylation biomarkers gives us the possibility to perform follow-up studies on the same patients as they grow. These studies will not only help us understand how the methylome responds to continuum postnatal growth but also link early alterations of the DNA methylome with later clinical markers of growth and metabolic fitness.
Topics: Pregnancy; Adult; Female; Humans; Infant, Newborn; DNA Methylation; Gestational Age; Diabetes, Gestational; Fetal Macrosomia
PubMed: 38093359
DOI: 10.1186/s13148-023-01612-8 -
Journal of Radiology Case Reports Aug 2023Zinner's syndrome is a rare congenital malformation characterized by the association of unilateral renal agenesis with ipsilateral seminal vesicle cyst and ejaculatory...
Zinner's syndrome is a rare congenital malformation characterized by the association of unilateral renal agenesis with ipsilateral seminal vesicle cyst and ejaculatory duct obstruction. Most patients are asymptomatic until the third or fourth decade of life when the syndrome is associated with dysuria, perineal pain, infertility, and painful ejaculation. In this report, we present the common imaging findings of this rare developmental anomaly involving the mesonephric duct in a 48-year-old male patient experiencing pelvic pain, recurrent dysuria, and pollakiuria.
Topics: Male; Humans; Middle Aged; Kidney; Dysuria; Seminal Vesicles; Wolffian Ducts; Genital Diseases, Male; Syndrome
PubMed: 38090641
DOI: 10.3941/jrcr.v17i8.5055 -
International Journal of Gynecological... May 2024Mesonephric-like adenocarcinoma (MLA) has recently been described as a tumor of the endometrium or ovaries, which, morphologically and immunohistochemically, resembles...
Mesonephric-like adenocarcinoma (MLA) has recently been described as a tumor of the endometrium or ovaries, which, morphologically and immunohistochemically, resembles mesonephric adenocarcinoma arising mostly in the uterine cervix. Herein, we report, to our knowledge, the first case of ovarian MLA that developed into an extremely rapidly growing recurrent mesonephric-like carcinosarcoma, as confirmed by a genomic profiling test. A 51-year-old woman underwent chemotherapy with complete debulking surgery for ovarian carcinoma. Pathologically, the patient was diagnosed with stage IVB ovarian MLA. Subsequent to 15 months of complete remission, an enhanced computed tomography scan revealed a solid tumor of 10 cm diameter in the abdominal cavity. Secondary surgery was terminated with a 2 cm 2 tumor biopsy specimen collection considering perioperative complications. Histologically, the tumor consisted of short spindle cells, and immunohistochemical staining revealed a rhabdomyosarcomatous profile without an epithelial component. Despite treatment for the sarcoma, she died 3 months after the detection of the tumor. The genomic profiling of the primary ovarian carcinoma and secondary resected tumor biopsy specimens revealed an identical KRAS mutation in both. Therefore, we concluded that the ovarian MLA recurred with a rhabdomyosarcoma component.
Topics: Female; Humans; Middle Aged; Neoplasm Recurrence, Local; Adenocarcinoma; Ovarian Neoplasms; Rhabdomyosarcoma
PubMed: 38085954
DOI: 10.1097/PGP.0000000000000991