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Hereditary Cancer in Clinical Practice Nov 2023In Japan, genetic testing, surveillance, and risk-reducing surgery for hereditary breast and ovarian cancer (HBOC) syndrome have been covered by the Japanese national...
BACKGROUND
In Japan, genetic testing, surveillance, and risk-reducing surgery for hereditary breast and ovarian cancer (HBOC) syndrome have been covered by the Japanese national insurance system since April 2020. On the other hand, the current situation is that medical care, including surveillance of undiagnosed (cancer-free) patients, is self-funded even for individuals with HBOC. We report a case in which breast cancer was diagnosed at an early stage during surveillance for cancer-free HBOC at the patient's own expense, and risk-reducing surgery was performed at the same time as treatment for breast cancer.
CASE PRESENTATION
The patient was a 63-year-old woman. Her sister had a history of breast cancer in her 30s and was found to be a BRCA2 pathogenic variant carrier by genetic testing. The patient therefore presented to the genetic department of our hospital and underwent genetic testing (out-of-pocket). A pathogenic variant was found at the same site. During annual breast and ovarian surveillance at the patient's own expense, a physician with sufficient expertise in contrast-enhanced breast magnetic resonance imaging (MRI) noticed a change in the contrast enhancement pattern on breast MRI and performed needle biopsy, revealing ductal carcinoma in situ. At the request of the patient, she underwent concurrent contralateral risk-reducing mastectomy and risk-reducing salpingo-oophorectomy in addition to breast cancer treatment.
CONCLUSIONS
We encountered a case in which cancer treatment and risk-reducing surgery were performed at the same time for a pathogenic variant carrier who was very anxious about developing cancer. Surveillance of cancer-free BRCA1/2 mutation carriers and expansion of insurance coverage for surgery are important future issues.
PubMed: 37957733
DOI: 10.1186/s13053-023-00268-y -
Journal of Mid-life Health 2023Mature cystic teratoma is a benign ovarian tumor that usually presents in reproductive-age females. This tumor usually presents with pain abdomen, bloating, and a lump....
Mature cystic teratoma is a benign ovarian tumor that usually presents in reproductive-age females. This tumor usually presents with pain abdomen, bloating, and a lump. Hereby, we describe a case of an ovarian dermoid presented with features of intestinal obstruction secondary to ileo-dermoid fistula formation. A 55-year-old postmenopausal female presented with lower abdominal pain, nausea, vomiting, and the feeling of a lump in the abdomen. On evaluation and imaging, it was diagnosed as a large ovarian dermoid (with malignant transformation) with multiple fistulous communications with ileal loops. The patient was managed by laparotomy, total abdominal hysterectomy with bilateral salpingo-oophorectomy, bowel resection, and anastomosis. The patient was discharged in good condition. The rupture of malignant ovarian dermoid followed by enterodermoid fistula formation and intestinal obstruction is rare. Complete cytoreduction and bowel repair should be considered for optimal results.
PubMed: 38504737
DOI: 10.4103/jmh.jmh_205_22 -
World Journal of Surgical Oncology Feb 2024To present a case series of 11 rare uterine tumors resembling ovarian sex cord tumors (UTROSCTs), and review the literature on this topic to offer up-to-date treatment... (Review)
Review
AIMS
To present a case series of 11 rare uterine tumors resembling ovarian sex cord tumors (UTROSCTs), and review the literature on this topic to offer up-to-date treatment management for UTROSCTs.
METHOD
Eight cases from Fujian Cancer Hospital between January 2017 and May 2023 and three patients from Fujian Union Hospital between October 2012 and October 2020 were retrospectively reviewed. All cases were pathologically confirmed as UTROSCTs by two senior and experienced pathologists. Clinical behaviors, medical data, histopathological features, therapy approaches, and survival outcomes were discussed.
RESULTS
The median age at initial diagnosis was 53 years (29-70 years). 3 (27.3%) patients were under 40. Seven cases presented with abnormal vaginal bleeding, one with menstrual disorder, one with abnormal vaginal secretion, and two patients were accidentally found by physical examination without any symptoms. Three patients were initially misdiagnosed with endometrial cancer by MRI. Curettage was performed in all cases. Nine of them were well diagnosed by routine curettage, except for two samples, which were identified after surgery. Immunohistochemical biomarkers, such as CD99, Desmin, WT-1, CK, Vimentin, SMA, α-Inhibin, Ki67, CD56, ER, PR, and CR, tend to be positive in UTRO SCs patients. Six patients underwent hysterectomy with bilateral salpingo-oophorectomy. Two cases received a radical hysterectomy with bilateral salpingo-oophorectomy, retroperitoneal lymph node dissection, and omentum dissection. Three UTROSCTs were under observation after mass resection. The median PFS was 24 months (range 1-125 months).
CONCLUSION
UTROSCT is a rare mesenchymal tumor with low malignant potential. Treatment modalities should be carefully considered to balance the therapy outcomes and patient needs. Surgery conservative management might be suitable for young women with fertility desires.
Topics: Humans; Female; Middle Aged; Retrospective Studies; Uterine Neoplasms; Endometrial Neoplasms; Ovarian Neoplasms; Hysterectomy
PubMed: 38310233
DOI: 10.1186/s12957-024-03319-3 -
Cureus Oct 2023Spontaneous hemoperitoneum in pregnancy (SHiP) is a rare obstetric emergency that may have an adverse outcome for the mother and baby. This case report describes a...
Spontaneous hemoperitoneum in pregnancy (SHiP) is a rare obstetric emergency that may have an adverse outcome for the mother and baby. This case report describes a unique SHiP case initially diagnosed as acute appendicitis in a patient with severe endometriosis before conception. A woman in her 30s, a primigravida, was admitted with abdominal pain at 32+5 weeks gestational age. Following a surgical review, she was initially diagnosed with acute appendicitis and commenced on intravenous antibiotics. She experienced a dramatic deterioration in her health in the form of clinical shock and fetal distress. She had an emergency laparotomy, a hysterectomy, and a left salpingo-oophorectomy for uncontrollable bleeding. The baby was born in good health, and the mother had an uneventful recovery.
PubMed: 38021831
DOI: 10.7759/cureus.47040 -
Cureus Sep 2023Although rare, interstitial ectopic pregnancy poses a challenge in diagnosis and management. The pregnancy is implanted in the interstitial part of the fallopian tube,...
Although rare, interstitial ectopic pregnancy poses a challenge in diagnosis and management. The pregnancy is implanted in the interstitial part of the fallopian tube, i.e., the proximal intramural portion. When ruptured, it results in a catastrophic event; the rupture can involve the uterine wall, as in this case, which puts the prognosis of future pregnancies at risk. Here, a case of a 35-year-old primigravida who conceived after ovulation induction is reported. Her diagnosis of ectopic pregnancy was missed; it was misdiagnosed as incomplete abortion followed by dilatation and evacuation. Post-evacuation severe pain and hemodynamic instability, and subsequent ultrasonography (USG) lead to the diagnosis of left interstitial ectopic pregnancy. Emergency laparotomy, left salpingo-oophorectomy, and cornual resection with repair were done.
PubMed: 37868439
DOI: 10.7759/cureus.45711 -
Journal of Surgical Case Reports Oct 2023This paper presents a rare case of an asymptomatic colo-ovarian fistula in a 45-year-old female with acute psychosis and a history of bipolar disorder, seizure disorder...
This paper presents a rare case of an asymptomatic colo-ovarian fistula in a 45-year-old female with acute psychosis and a history of bipolar disorder, seizure disorder and substance misuse. The intricate diagnostic challenges arising from the patient's complex medical history underscore the significance of a multidisciplinary approach. The absence of typical gastrointestinal symptoms and the presence of a tubo-ovarian abscess complicated the diagnosis of acute on chronic sigmoid diverticulitis and colo-ovarian fistula. Surgical intervention, including sigmoid resection, anastomosis and left salpingo-oophorectomy, led to successful resolution. This case highlights the need for further understanding of colo-ovarian fistula pathophysiology, improved diagnostic strategies, and the nuanced interplay between medical and psychiatric conditions in complex clinical scenarios.
PubMed: 37901605
DOI: 10.1093/jscr/rjad525 -
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 -
World Journal of Clinical Cases Jul 2023Angiosarcoma (AS) is a rare and highly aggressive soft tissue disease that most commonly arises in deep soft tissues. There are only a few reported cases of AS involving...
BACKGROUND
Angiosarcoma (AS) is a rare and highly aggressive soft tissue disease that most commonly arises in deep soft tissues. There are only a few reported cases of AS involving the ovary and even fewer reports of the underlying molecular abnormalities. Here, we briefly review two cases of primary ovarian AS (oAS) with specific molecular events and immune checkpoints. The clinical features and prognosis of the disease, diagnosis, differential diagnosis, and new treatment approaches are discussed based on a literature review.
CASE SUMMARY
Case 1: A 51-year-old female patient was admitted with right lower limb pain for 5 mo, and lower abdominal pain with hematuria for 1 mo. Partial removal of rectus abdominis muscle and fascia, partial hysterectomy, bilateral salpingo-oophorectomy, and inguinal and pelvic lymphadenectomy were performed. Pathology revealed primary oAS. Fluorescence hybridization revealed gene amplification. MESNA + ADM + IFO + DTIC (MAID) regimen was administered, but stable disease was achieved. The patient died 1 mo later. Case 2: A 41-year-old female patient presented with fatigue, nausea, decreased appetite, and diffuse abdominal pain. On physical examination, the abdomen was distended and a complex cystic mass was palpable in the right pelvic cavity. Pathology revealed primary oAS. MAID chemotherapy was administered and programmed death ligand 1 (PD-L1) staining was performed on the tumor samples. The patient benefited from anti-PD-1 immunotherapy and is alive without any evidence of disease 27 mo off therapy in follow-up.
CONCLUSION
Long-term survival benefit for primary oAS can be achieved by alternative therapeutic strategies using pathological indicators to inform treatment.
PubMed: 37583851
DOI: 10.12998/wjcc.v11.i21.5122 -
Medicine Aug 2023Carcinoid tumors, derived from the cells of the disseminated neuroendocrine system, are rare, slow-growing neuroendocrine neoplasms that display a relatively indolent...
RATIONALE
Carcinoid tumors, derived from the cells of the disseminated neuroendocrine system, are rare, slow-growing neuroendocrine neoplasms that display a relatively indolent disease course. The majority of carcinoids are found within the gastrointestinal tract and bronchopulmonary system. Primary ovarian carcinoids are rare and account for merely 1% of all carcinoid tumors. We describe our experience of a rare case of primary ovarian carcinoid, presenting as chronic constipation, with no other carcinoid symptoms such as flushing, diarrhea, and wheezing.
PATIENT CONCERNS
A 51-year-old postmenopausal woman with chronic constipation visited the clinic for routine check-up of her preexisting uterine fibroids. She had undergone hemorrhoidectomy 3 years ago. Physical examination revealed a soft abdomen without direct or rebound tenderness. Transvaginal ultrasonography revealed two subserosal fibroids, which had increased in size compared with previous ultrasonographic findings. A 3 cm hyperechoic mass was also detected in the right ovary. Her blood and urine tests were unremarkable, with no ascites in the pelvic cavity. She had a normal CA-125 level of 5.5 units/mL.
DIAGNOSIS, INTERVENTIONS, AND OUTCOMES
The patient underwent a robot-assisted hysterectomy and right salpingo-oophorectomy because of enlarging fibroids and the right ovarian mass. Subsequently, based on the pathological and immunohistochemical findings, she was diagnosed with a primary ovarian carcinoid. The mass consisted of the insular and trabecular types of tumor cells. It was positive for pan-cytokeratin and synaptophysin, and the Ki-67 proliferation index was less than 1%. A follow-up positron emission tomography-computed tomography revealed no distant metastasis. Six months postoperatively, the patient was doing well without any signs of recurrence.
LESSONS
Primary ovarian carcinoids without teratoma components are rare. It is crucial to make an accurate diagnosis based on the immunohistochemical staining results. Diagnosis in the early stages of the disease are associated with a favorable prognosis, but regular follow-up is mandatory.
Topics: Humans; Female; Middle Aged; Ovarian Neoplasms; Salpingo-oophorectomy; Carcinoid Tumor; Constipation
PubMed: 37543794
DOI: 10.1097/MD.0000000000034391