Clinicopathological study of cystic and atypical uterine leiomyoma: a rare entity

Background: The atypical (symplastic) uterine leiomyoma is uncommon and is often characterized by similar macroscopic features as typical uterine fibroid but differs microscopically by having intense cytological features such as enlargement of the nucleus, hyperchromasia, and prominent nucleoli. It lacks histopathological features usually seen in leiomyosarcoma but harbours a low potential of transformation into leiomyosarcoma. Atypical leiomyoma very rarely occurs in post-menopausal women. Case presentation: A 78-year-old postmenopausal woman presented to our gynaecology clinic with an 8-month history of post-menopausal bleeding and abdominal swelling. Physical examination revealed abdominal swelling but blood chemistry was normal. An initial diagnosis of endometrial carcinoma was made and she subsequently had a total abdominal hysterectomy with bilateral salpingo-oophorectomy. Following histopathological evaluations, a confirmatory diagnosis of atypical uterine leiomyoma was made. She has been symptom-free for two years following surgical intervention. Conclusion: Despite their rarity in postmenopausal women, atypical fibroids should be considered in the differential diagnosis for postmenopausal bleeding. Considering the malignant transformation potential, recurrence risk of this pathology, and the completion of family size in this case, hysterectomy is the most preferred treatment option even though myomectomy can be offered to patients with plans of conception in the future.

Introduction: Atypical leiomyomas are diagnosed histologically, showing pleomorphic atypical tumor cells with low mitotic counts and no coagulative necrosis. Surgical treatment is indicated when abnormal uterine bleeding or symptoms related to the size of the leiomyomas, infertility, or recurrent gestational loss are presented. Clinical case: A 40-year-old woman with a history of menstrual changes, abdominal pain, and intermenstrual bleeding was scheduled for surgery. Pathology reported an atypical leiomyoma (23x18x13 cm) with myxoid degeneration. Discussion: Uterine leiomyomas affect 70-80% of women in their reproductive age. Symptoms vary by size and location, including abnormal bleeding, pain, and pressure-related issues. This patient had a single pedunculated leiomyoma, no endometrial hyperplasia, negative cervical cytology, and uterine adhesions. Myomectomy was chosen to avoid organ damage. Conclusion: Atypical leiomyomas are rare tumors diagnosed through biopsy and histopathological examination, displaying 10 mitoses per field and no necrosis. Immunohistochemical studies are necessary to distinguish them from leiomyosarcoma. Long-term follow-up after myomectomy is essential to monitor for recurrence.

Hydropic leiomyoma (HLM) is a rare subtype of uterine leiomyoma characterized by significant interstitial fluid accumulation, often mimicking malignant tumors due to its imaging features. Although most uterine leiomyomas are benign and commonly occur in women of reproductive age, HLM can grow to an unusually large size, leading to diagnostic challenges. In this case report, we present a case of a 59-year-old postmenopausal woman with a giant HLM exhibiting extensive cystic hydropic degeneration resembling an aggressive abdominopelvic tumor. The tumor measured 35 × 27 × 17 cm and caused a significant mass effect on surrounding organs. Surgical management involved a total abdominal hysterectomy with right salpingo-oophorectomy via midline laparotomy. Intraoperative findings included displacement of the small bowel, transverse colon, and greater omentum by the tumor, with adherence of the left adnexa to the external surface of the uterus. A left ureteral transection occurred during tumor dissection and was successfully repaired with ureteral reanastomosis and placement of a pigtail stent. The operation lasted 4 hours 11 minutes, and the patient had an uncomplicated postoperative recovery. Histopathological examination confirmed the diagnosis of HLM with extensive cystic degeneration. Based on available literature, this case appears to represent the largest HLM reported to date, highlighting the importance of accurately distinguishing benign from malignant tumors to guide appropriate clinical management. This case underscores the complexities associated with diagnosing and surgically treating large, degenerating uterine leiomyomas.

Introduction: Atypical uterine leiomyoma (ALM) shows benign behavior and does not require adjuvant therapy. As the distinction between uterine leiomyoma, ALM, and leiomyosarcoma is only possible through pathology, it is almost impossible to diagnose ALM before surgery. Patient concerns: A 34-year-old multigravida woman who had undergone myomectomy for leiomyoma ten years earlier presented with fibroids that had gradually increased in size. Diagnoses: An ultrasound scan and abdominal and pelvic computed tomography revealed large myomas. The postoperative pathologic findings confirmed the diagnosis of ALM. The Ki-67 proliferation index was 15%. Interventions: We performed laparoscopic myomectomy. Outcomes: The patient recovered well after the surgery. The patient has undergone ultrasound follow-up every six months after surgery and has been doing well for three years without any recurrence. Conclusion: The combination of clinical features, imaging, pathological findings, and tumor suppressor gene Ki-67 expression may be of great value in the assessment of benign, atypical, and malignant uterine smooth muscle tumors. There are still no precise methods to differentiate them before surgery, and pathology remains the gold standard for diagnosis. Periodic monitoring is recommended until menopause, although the recommended interval remains controversial.

Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer

Thymoma is the most common tumor in the compartment of anterior mediastinum. The malignant thymoma is classified into invasive thymoma(category I) and thymic carcinoma(category II). Recently, well-differentiated thymic carcinoma is a proposed category 1.5 used to describe a subset of thymic epithelial tumors, allowing for the existence of intermediate form based on the clinical features and the histological characteristics. Thymic cyst is a congenital or a acquired disorder. Congenital thymic cyst may develop due to failure of the thymopharyngeal duct to obliterate and acquired thymic cyst develops from inflammation(multilocular thymic cyst), or neoplasm(cystic thymoma). Cystic degeneration in thymoma is a relatively frequent but focal event. In rare cases, the process proceeds to the extent that most or all of the lesion becomes cystic. Until now, well-differentiated thymic carcinoma with extensive cystic degeneration has not been reported in our country. We experienced a case of 14 year-old female patient showing extensive cystic degeneration in well-differentiated thymic carcinoma. And so we report it with review of the articles related.

Background: Lipoleiomyomas and plexiform leiomyomas are uncommon variants of leiomyomas, although myomas are the commonest neoplasms in women, particularly in the reproductive-age group. Giant leiomyomas are known to occur in the uterus and occasionally in the subserosal or broad-ligament locations. Nearly half of leiomyomas have some of the secondary changes such as hyaline, myxoid, cystic, or red degeneration. Ultrasonography (USG), computed tomography (CT), and magnetic resonance imaging (MRI) have all been used to delineate pelvic masses. Case: A 37-year-old female presented with an abdominal mass. She underwent USG, CT, and MRI, followed by surgical removal and histopathologic confirmation of the presence of a giant plexiform lipoleiomyoma of the broad ligament with extensive cystic degeneration. USG had shown a mixed solid-cystic mass with “honeycomb” areas. CT features were suggestive of a mixed-density tumor with small nodular areas separate from the uterus. MRI revealed the broad-ligamen...

Schwannoma affect mainly head, neck, and flexor aspect of the limbs. Neurogenic tumors arising from the brachial plexus are rare and axillary schwannoma is extremely uncommon. Cystic degeneration is common in longstanding cases and which when aspirated may yield only macrophages or lymphocytes leading to false diagnosis of the case in spite of strong clinical suspicion. We report one such rare case of a solitary axillary schwannoma with extensive cystic degeneration, which was misdiagnosed on fine needle aspiration cytology and subsequently confirmed by the histopathological examination and immunohistochemistry.

Primary neoplasms in the psoas muscle including schwannoma and soft tissue sarcoma with secondary cystic degeneration are rare entities. They are difficult to distinguish from psoas abscess purely based on radiological findings. Malignant fibrous histiocytoma (MFH) in the retroperitoneum is an uncommon entity in contrast to liposarcoma and leiomyosarcoma. Psoas abscess is a common infection in the retroperitoneum, especially in regions where tuberculosis is endemic. In the current case, the patient presented with gradually progressive lower abdominal pain and raised erythrocyte sedimentation rate (ESR), lymphocyte count and sputum positive for acid fast bacilli. There was a presence of previous history of skeletal tuberculosis. Imaging revealed well-defined multilocular cystic lesion involving the left psoas muscle which along with the clinical scenario suggested psoas abscess. However, post-operative biopsy showed the lesion to be a MFH with extensive cystic degeneration. To the best of our knowledge, cystic MFH mimicking an abscess has been previously reported only once in an oncology literature.

Fibroids are smooth muscle benign tumors; most commonly arise from uterus but may also rise from extra uterine sites like broad ligament. This case report of broad ligament myoma with extensive cystic degeneration is presented for its rarity and diagnostic challenges as they mimic pelvic adenexal tumors. Mrs. X, 43 years old p5+2, asymptomatic women with no co-morbids presented with mass in abdomen. The MRI showed mix attenuation mass of 19.7 x 16.8 x 13.7cms arising from right side of uterus extending up to epigastrium, with cystic and solid components and ascitic fluid. Resection of mass with abdominal hysterectomy with bilateral salphingo oophrectomy was done. No local or abdominal organ metastases were seen. Histopathology showed left broad ligament leiomyoma weighing 4000 grams with cystic degeneration. Huge broad ligament leiomyoma with cystic degeneration and abdominal ascites may cause diagnostic dilemma with ovarian malignancy. This differential diagnosis must be considered before surgery.

Loss-of-function germline mutations in the fumarase (FH) gene of the Krebs cycle characterize hereditary leiomyomatosis and renal cell cancer syndrome. Fumarase (FH) deficiency can be diagnosed by the loss of immunohistochemical expression. In this study, we investigated the occurrence and clinicopathologic features of FH-deficient uterine smooth muscle tumors (SMTs). A total of 1583 uterine and 157 nonuterine SMTs were examined using a polyclonal FH antibody and automated immunohistochemistry, and 86 uterine leiomyomas with an FH loss were identified. The frequencies of FH deficiency for subcohorts of uterine SMTs were 1.6% for unselected nonatypical leiomyomas, 1.8% for cellular leiomyomas, 37.3% for atypical leiomyomas, and 0% for leiomyosarcomas. One extrauterine, retroperitoneal estrogen receptor-positive leiomyoma was also FH deficient. The patient age of FH-deficient uterine leiomyomas was 20 to 52 years (median, 38 y). Grossly, these tumors were often soft and amorphous resembling a fibrothecoma. Histologically, the FH-deficient nonatypical leiomyomas lacked cellular packeting and distinct collagenous zones and showed chain-like or palisading nuclear arrangements, prominent staghorn-shaped blood vessels, oval nuclei with no or at most mild atypia, small eosinophilic nucleoli, and a low mitotic rate (0 to 1/10 HPF). The FH-deficient atypical leiomyomas had nuclear atypia often manifesting as multinucleation, prominent eosinophilic nucleoli, and mitotic activity up to 7/10 HPF, with atypical mitoses seen in 32% of cases. However, similar histologic changes were seen in some non-FH-deficient atypical leiomyomas. Loss-of-function FH-gene mutations including 5 whole-gene deletions and 3 frameshift mutations were identified in 8 of 16 FH-deficient nonatypical leiomyomas using multiplex ligation-dependent probe amplification and Sanger sequencing, respectively. Follow-up data on patients with FH-deficient atypical uterine leiomyomas revealed 19 patients alive (median follow-up 27 y) and 5 patients dead. Deaths occurred 9 to 30 years after surgery at a median age of 72 years; causes of death could not be determined. These results indicate that FH-deficient uterine leiomyomas occur with a high frequency among atypical leiomyomas and infrequently in nonatypical leiomyomas and are often histologically distinctive. They seem to have a low biological potential and lack any significant association with leiomyosarcoma.

<div>Abstract<p>Women with germline pathogenic variants (PV) in the <i>fumarate hydratase</i> (<i>FH</i>) gene develop cutaneous and uterine leiomyomata and have an increased risk of developing aggressive renal cell carcinomas. Many of these women are unaware of their cancer predisposition until an atypical uterine leiomyoma is diagnosed during a myomectomy or hysterectomy, making a streamlined genetic counseling process after a pathology-based atypical uterine leiomyoma diagnosis critical. However, the prevalence of germline pathogenic/likely PVs in <i>FH</i> among atypical uterine leiomyomata cases is unknown. To better understand <i>FH</i> germline PV prevalence and current patterns of genetic counseling and germline genetic testing, we undertook a retrospective review of atypical uterine leiomyomata cases at a single large center. We compared clinical characteristics between the <i>FH</i> PV, <i>FH</i> wild-type (WT), and unknown genetic testing cohorts. Of the 144 cases with atypical uterine leiomyomata with evaluable clinical data, only 49 (34%) had documented genetic test results, and 12 (8.3%) had a germline <i>FH</i> PV. There were 48 IHC-defined <i>FH</i>-deficient cases, of which 41 (85%) had <i>FH</i> testing and nine had a germline <i>FH</i> PV, representing 22% of the tested cohort and 18.8% of the <i>FH</i>-deficient cohort. Germline <i>FH</i> PVs were present in 8.3% of evaluable patients, representing 24.5% of the cohort that completed genetic testing. These data highlight the disconnect between pathology and genetic counseling, and help to refine risk estimates that can be used when counseling patients with atypical uterine leiomyomata.</p>Prevention Relevance:<p>Women diagnosed with <i>fumarate hydratase</i> (<i>FH</i>)-deficient uterine leiomyomata are at increased risk of renal cancer. This work suggests a more standardized pathology-genetic counseling referral pathway for these patients, and that research on underlying causes of <i>FH</i>-deficient uterine leiomyomata in the absence of germline <i>FH</i> pathogenic/likely pathogenic variants is needed.</p></div>

<div>Abstract<p>Women with germline pathogenic variants (PV) in the <i>fumarate hydratase</i> (<i>FH</i>) gene develop cutaneous and uterine leiomyomata and have an increased risk of developing aggressive renal cell carcinomas. Many of these women are unaware of their cancer predisposition until an atypical uterine leiomyoma is diagnosed during a myomectomy or hysterectomy, making a streamlined genetic counseling process after a pathology-based atypical uterine leiomyoma diagnosis critical. However, the prevalence of germline pathogenic/likely PVs in <i>FH</i> among atypical uterine leiomyomata cases is unknown. To better understand <i>FH</i> germline PV prevalence and current patterns of genetic counseling and germline genetic testing, we undertook a retrospective review of atypical uterine leiomyomata cases at a single large center. We compared clinical characteristics between the <i>FH</i> PV, <i>FH</i> wild-type (WT), and unknown genetic testing cohorts. Of the 144 cases with atypical uterine leiomyomata with evaluable clinical data, only 49 (34%) had documented genetic test results, and 12 (8.3%) had a germline <i>FH</i> PV. There were 48 IHC-defined <i>FH</i>-deficient cases, of which 41 (85%) had <i>FH</i> testing and nine had a germline <i>FH</i> PV, representing 22% of the tested cohort and 18.8% of the <i>FH</i>-deficient cohort. Germline <i>FH</i> PVs were present in 8.3% of evaluable patients, representing 24.5% of the cohort that completed genetic testing. These data highlight the disconnect between pathology and genetic counseling, and help to refine risk estimates that can be used when counseling patients with atypical uterine leiomyomata.</p>Prevention Relevance:<p>Women diagnosed with <i>fumarate hydratase</i> (<i>FH</i>)-deficient uterine leiomyomata are at increased risk of renal cancer. This work suggests a more standardized pathology-genetic counseling referral pathway for these patients, and that research on underlying causes of <i>FH</i>-deficient uterine leiomyomata in the absence of germline <i>FH</i> pathogenic/likely pathogenic variants is needed.</p></div>

The objective of this investigation was to find out the histopathological changes of the placenta and to correlate them with fetal malformations and growth retardation in experimental diabetes. Diabetes was induced in Wistar rats at different stages of gestation by intraperitoneal injection of streptozotocin (STZ). The controls were either buffer treated or injected with STZ followed by 2–6 IU insulin until term. All fetuses and placentae were collected on day 20 of gestation. Fetuses of diabetic rats were significantly growth retarded. Maxillary hypoplasia, edema, gastroschisis, exencephaly and septal defects of the heart were the major malformations. Most of the experimental placentae weighed heavier relative to their body mass. Toluidine blue stained sections of the placentae revealed severe histological abnormalities. The unusually large sized placentae had extensive cystic degeneration, often with an increased population of leucocytes. Giant cells were very numerous. Perivascular fibrosis, persistence of fetal mesenchyme, edema, infarcts and vacuolisation were observed in the labyrinths. In the small placentae, the glycogen cells were fewer and the glycogen in them remained unutilized. Reduction of labyrinthine zone, hypovascularity, constriction of vessels, perivascular edema and platelet aggregation characterized these placentae. The placentae of externally malformed fetuses showed cystic degeneration; their labyrinths contained constricted and less extensive vascular network. Phagocytic giant cells, polymorphs and platelet aggregation were also marked. Placentae of externally normal looking fetuses also presented cystic degeneration, reduction in fetal vasculature, dilated maternal sinusoids and giant cell proliferation. Insulin treatment resulted in the preservation of most of the normal histology of the placenta which correlated well with the reduced fetal malformations.

A giant cystic leiomyoma mimicking an ovarian malignancy