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BMC Women's Health Mar 2024Malignant Struma Ovarii (MSO) is a rare type of germ cell tumour which is diagnosed postoperatively on surgical pathology specimens by the presence of differentiated...
BACKGROUND
Malignant Struma Ovarii (MSO) is a rare type of germ cell tumour which is diagnosed postoperatively on surgical pathology specimens by the presence of differentiated thyroid cancer in mature cystic teratomas in the ovaries. Treatment and follow-up procedures are not clearly established due to the paucity of MSO cases. CASE 1: A 44-year-old multiparous female presented with an irregular period. Ultrasound showed a left ovarian lesion mostly a dermoid cyst, however, CT showed a 3.8 × 2.7 × 4 cm complex cystic lesion with thick septation and enhancing soft tissue component. Laparoscopic left salpingo-oophorectomy was performed and histopathology showed a follicular variant of papillary thyroid carcinoma arising in a mature cystic teratoma. Peritoneal cytology was positive for malignancy. A thyroid function test was normal before surgery. Total thyroidectomy was performed followed by radioactive (RAI) iodine therapy. Later, a total laparoscopic hysterectomy and right salpingo-oophorectomy were performed. There is no evidence of recurrent disease during the 26-months follow-up. CASE 2: A 46-year-old single female presented with left lower abdominal pain that had persisted for 2 months. Imaging revealed an 8 × 9 × 9.5 cm left ovarian mass. Laparoscopic left salpingo-oophorectomy was performed and histopathology showed mature cystic teratoma with small papillary thyroid cancer. CT showed no evidence of metastatic disease. Later, the patient had a total thyroidectomy followed by radioactive (RAI) iodine therapy. She was started on thyroxine and later had total abdominal hysterectomy and right salpingo-oophorectomy.
CONCLUSION
MSO is a very rare tumour. Preoperative diagnosis is very difficult because of the nonspecific symptoms and the lack of specific features in imaging studies. Also, there is no consensus on the optimal treatment of women with MSO. Our two cases add to the limited number of MSO cases.
Topics: Female; Humans; Adult; Middle Aged; Dermoid Cyst; Struma Ovarii; Ovarian Neoplasms; Iodine
PubMed: 38443937
DOI: 10.1186/s12905-024-03002-5 -
Sultan Qaboos University Medical Journal Feb 2024Dermoid cysts are common benign ovarian tumours arising from totipotent germ cells. We report a rare case of chemical peritonitis and prolonged fever following...
Dermoid cysts are common benign ovarian tumours arising from totipotent germ cells. We report a rare case of chemical peritonitis and prolonged fever following laparoscopic salpingo-oophorectomy for torsion of a large ovarian dermoid and discuss the management of this patient with prolonged hospital stay, antibiotics and anti-inflammatory use, repeated drainage of the collection as well as re-laparotomy. The occurrence of this rare condition can be extremely distressing for the patient and treating surgeon alike, as the recommendations for management are limited. The management of chemical peritonitis may require one or more surgical procedures along with prolonged anti-inflammatory therapy.
Topics: Humans; Female; Dermoid Cyst; Laparoscopy; Anti-Bacterial Agents; Drainage; Anti-Inflammatory Agents
PubMed: 38434467
DOI: 10.18295/squmj.3.2023.019 -
Proceedings of the National Academy of... Mar 2024Ovarian immature teratomas (OITs) are malignant tumors originating from the ovarian germ cells that mainly occur during the first 30 y of a female's life. Early age of...
Ovarian immature teratomas (OITs) are malignant tumors originating from the ovarian germ cells that mainly occur during the first 30 y of a female's life. Early age of onset strongly suggests the presence of susceptibility gene mutations for the disease yet to be discovered. Whole exon sequencing was used to screen pathogenic mutations from pedigrees with OITs. A rare missense germline mutation (C262T) in the first exon of the BMP15 gene was identified. In silico calculation suggested that the mutation could impair the formation of mature peptides. In vitro experiments on cell lines confirmed that the mutation caused an 84.7% reduction in the secretion of mature BMP15. Clinical samples from OIT patients also showed a similar pattern of decrease in the BMP15 expression. In the transgenic mouse model, the spontaneous parthenogenetic activation significantly increased in oocytes carrying the T allele. Remarkably, a mouse carrying the T allele developed the phenotype of OIT. Oocyte-specific RNA sequencing revealed that abnormal activation of the H-Ras/MAPK pathway might contribute to the development of OIT. BMP15 was identified as a pathogenic gene for OIT which improved our understanding of the etiology of OIT and provided a potential biomarker for genetic screening of this disorder.
Topics: Humans; Female; Mice; Animals; Mutation, Missense; Germ-Line Mutation; Oocytes; Ovary; Bone Morphogenetic Protein 15; Teratoma
PubMed: 38427603
DOI: 10.1073/pnas.2310409121 -
Archives of Plastic Surgery Jan 2024Refractory chylous ascites can cause significant nutritional and immunologic morbidity, but no clear treatment has been established. This article introduces a case of a...
Refractory chylous ascites can cause significant nutritional and immunologic morbidity, but no clear treatment has been established. This article introduces a case of a 22-year-old female patient with an underlying lymphatic anomaly who presented with refractory chylous ascites after laparoscopic adnexectomy for ovarian teratoma which aggravated after thoracic duct embolization. Ascites (>3,000 mL/d) had to be drained via a percutaneous catheter to relieve abdominal distention and consequent dyspnea, leading to significant cachexia and weight loss. Two sessions of hybrid lymphovenous anastomosis (LVA) surgery with intraoperative mesenteric lymphangiography guidance were performed to decompress the lymphatics. The first LVA was done between inferior mesenteric vein and left para-aortic enlarged lymphatics in a side-to-side manner. The daily drainage of chylous ascites significantly decreased to 130 mL/day immediately following surgery but increased 6 days later. An additional LVA was performed between right ovarian vein and enlarged lymphatics in aortocaval area in side-to-side and end-to-side manner. The chylous ascites resolved subsequently without any complications, and the patient was discharged after 2 weeks. The patient regained weight without ascites recurrence after 22 months of follow-up. This case shares a successful experience of treating refractory chylous ascites with lymphatic anomaly through LVA, reversing the patient's life-threatening weight loss. LVA was applied with a multidisciplinary approach using intraoperative mesenteric lipiodol, and results showed the possibility of expanding its use to challenging problems in the intraperitoneal cavity.
PubMed: 38425866
DOI: 10.1055/s-0043-1776304 -
Therapeutic Advances in Neurological... 2024We present a case of a 42-year-old woman with paraneoplastic anti-N-Methyl-D-Aspartat (NMDA)-receptor encephalitis and concurrent neuroborreliosis that was initially...
We present a case of a 42-year-old woman with paraneoplastic anti-N-Methyl-D-Aspartat (NMDA)-receptor encephalitis and concurrent neuroborreliosis that was initially misdiagnosed as post-COVID-19 syndrome. Clinically, the patient presented with a range of chronic and subacute neuropsychiatric symptoms and recalled a tick bite weeks prior to admission. The patient had undergone psychiatric and complementary medical treatments for 1 year before admission and was initially diagnosed with post-COVID-19 syndrome. Admission was performed because of acute worsening with fever, confusion, and unsteady gait. Cerebrospinal fluid (CSF) analysis revealed pleocytosis with elevated borrelia Immunoglobulin M (IgM) and Immunoglobulin M (IgG) CSF/blood antibody indices, indicating acute neuroborreliosis. Anti-NMDA receptor antibodies were identified in the CSF a cell-based assay and were confirmed by an external laboratory. Other paraneoplastic antibodies were ruled out during in-house examination. Cranial Magnetic resonance imaging (MRI) revealed basal meningitis, rhomb- and limbic encephalitis. A subsequent pelvic Computer tomography (CT) scan identified an ovarian teratoma. The patient's clinical condition improved dramatically with antibiotic treatment and plasmapheresis, the teratoma was surgically removed and she was started on rituximab. Our case highlights that amidst the prevailing focus on COVID-19-related health concerns, other well-established, but rare neurological conditions should not be neglected. Furthermore, our case illustrates that patients may suffer from multiple, concurrent, yet pathophysiologically unrelated neuroinflammatory conditions.
PubMed: 38414722
DOI: 10.1177/17562864231224108 -
The Journal of International Medical... Feb 2024Immature ovarian teratomas are a rare subtype of germ cell tumours characterized by the presence of embryonic elements, particularly primitive neuroepithelium, and they... (Review)
Review
Immature ovarian teratomas are a rare subtype of germ cell tumours characterized by the presence of embryonic elements, particularly primitive neuroepithelium, and they typically affect young women. We report the case of a 20-year-old woman who presented with a growing abdominal mass that turned out to be a grade II immature teratoma after adnexectomy. This article reviews the clinical presentation, imaging features, and some of the main problems that arise in the management of immature ovarian teratomas.
Topics: Humans; Female; Young Adult; Adult; Teratoma; Ovarian Neoplasms
PubMed: 38410854
DOI: 10.1177/03000605241232568 -
International Journal of Molecular... Feb 2024Germline variants in the FOXE1 transcription factor have been associated with thyroid ectopy, cleft palate (CP) and thyroid cancer (TC). Here, we aimed to clarify the...
Germline variants in the FOXE1 transcription factor have been associated with thyroid ectopy, cleft palate (CP) and thyroid cancer (TC). Here, we aimed to clarify the role of in Portuguese families (F1 and F2) with members diagnosed with malignant struma ovarii (MSO), an ovarian teratoma with ectopic malignant thyroid tissue, papillary TC (PTC) and CP. Two rare germline heterozygous variants in the promoter were identified: F1) c.-522G>C, in the proband (MSO) and her mother (asymptomatic); F2) c.9C>T, in the proband (PTC), her sister and her mother (CP). Functional studies using rat normal thyroid (PCCL3) and human PTC (TPC-1) cells revealed that c.9C>T decreased promoter transcriptional activity in both cell models, while c.-522G>C led to opposing activities in the two models, when compared to the wild type. Immunohistochemistry and RT-qPCR analyses of patients' thyroid tumours revealed lower FOXE1 expression compared to adjacent normal and hyperplastic thyroid tissues. The patient with MSO also harboured a novel germline variant, presenting a loss of heterozygosity in its benign and malignant teratoma tissues and observable β-catenin cytoplasmic accumulation. The sequencing of the F1 (MSO) and F2 (PTC) probands' tumours unveiled somatic and variants, respectively. Germline and variants might have a role in thyroid ectopy and cleft palate, which, together with MAPK pathway activation, may contribute to tumours' malignant transformation.
Topics: Animals; Female; Humans; Rats; Cleft Palate; Dermoid Cyst; Forkhead Transcription Factors; Ovarian Neoplasms; Struma Ovarii; Thyroid Neoplasms
PubMed: 38396644
DOI: 10.3390/ijms25041966 -
Abdominal Radiology (New York) Apr 2024This study aims to evaluate and identify magnetic resonance (MR) findings of mural nodules to detect squamous cell carcinoma arising from ovarian mature cystic teratoma...
PURPOSE
This study aims to evaluate and identify magnetic resonance (MR) findings of mural nodules to detect squamous cell carcinoma arising from ovarian mature cystic teratoma (SCC-MCT).
METHODS
This retrospective study examined 135 patients (SCC-MCTs, n = 12; and benign MCTs, n = 123) with confirmed diagnoses across five different institutions between January 2010 and June 2022. Preoperative MR images for each patient were independently assessed by two experienced radiologists and analyzed following previously reported findings (PRFs): age, tumor size, presence of mural nodules, size of mural nodule, and the angle between mural nodule and cyst wall (acute or obtuse). Furthermore, this study evaluated four mural nodule features-diffusion restriction, fat intensity, Palm tree appearance, and calcification-and the presence of transmural extension.
RESULTS
There were significant differences between the SCC-MCT and benign MCT groups in terms of all PRFs and all mural nodule findings (p < 0.01). Among the PRFs, "tumor size" demonstrated the highest diagnostic performance, with a sensitivity of 83.3% and a specificity of 88.6%. A combination of the aforementioned four mural nodule findings showed a sensitivity and specificity of 83.3% and 97.6%, respectively, for the diagnosis of SCC-MCT. Regarding diagnosis based on a combination of four mural nodule findings, the specificity was significantly higher than the diagnosis based on tumor size (p = 0.021). Based on these mural nodule findings, three SCC-MCT patients without transmural invasion could be diagnosed.
CONCLUSION
Mural nodule MR findings had a higher diagnostic performance than PRFs for SCC-MCT and can potentially allow early detection of SCC-MCTs.
Topics: Female; Humans; Retrospective Studies; Teratoma; Ovarian Neoplasms; Magnetic Resonance Spectroscopy
PubMed: 38393356
DOI: 10.1007/s00261-024-04186-y -
Indian Journal of Pathology &... Feb 2024Mucinous carcinomas arising within an ovarian dermoid tumor are rare. Most of the cases reported in the literature show morphological features resembling an appendiceal...
Mucinous carcinomas arising within an ovarian dermoid tumor are rare. Most of the cases reported in the literature show morphological features resembling an appendiceal mucinous neoplasm. They exhibit CK7-/CK20+ immunophenotype similar to carcinomas of the lower gastrointestinal tract. In this report, we have described a case of a well-differentiated mucinous carcinoma arising within a mature cystic teratoma. The mucinous carcinoma showed a spectrum of morphological patterns, including cystadenoma-like areas, proliferative/borderline areas, villous adenoma-like areas, and areas of invasive carcinoma. In addition, our case showed some unusual findings, namely, diffuse CK7 positivity, associated pseudomyxoma peritonei, and metastasis to lungs. These features were not demonstrated in any of the previously reported cases. Our case shows that the teratomatous mucinous neoplasm of the ovary may show CK7+/CK20+/CDX2 + immunoprofile making it immunohistochemically indistinguishable from a primary ovarian mucinous neoplasm or a metastatic mucinous carcinoma of the lower gastrointestinal tract.
PubMed: 38391380
DOI: 10.4103/ijpm.ijpm_1255_21 -
Indian Journal of Pathology &... Apr 2024A 19-year-old woman presented with painless lower abdominal discomfort and a cystic-solid mass measuring 15.9 cm on the right ovary. She subsequently underwent... (Review)
Review
A 19-year-old woman presented with painless lower abdominal discomfort and a cystic-solid mass measuring 15.9 cm on the right ovary. She subsequently underwent laparoscopic right ovarian cystectomy. Microscopic examination of the mass showed the typical morphological features of Wilms' tumor and the predominance of teratoid elements constituting more than 50% of the tumor. To date, few cases of extrarenal teratoid Wilms' tumor (TWTs) in adults have been reported in the literature. The case presented in the present is the third reported case of adult extrarenal TWT occurring in ovary.
Topics: Female; Humans; Young Adult; Histocytochemistry; Laparoscopy; Microscopy; Ovarian Neoplasms; Ovary; Teratoma; Wilms Tumor
PubMed: 38391363
DOI: 10.4103/ijpm.ijpm_201_22