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Diagnostic Pathology Apr 2024PEComa is a mesenchymal tumor that can occur in various organs including the uterus and soft tissues. PEComas are composed of perivascular epithelioid cells, and...
BACKGROUND
PEComa is a mesenchymal tumor that can occur in various organs including the uterus and soft tissues. PEComas are composed of perivascular epithelioid cells, and angiomyolipoma (AML), clear cell sugar tumor (CCST), and lymphangiomyomatosis (LAM) are considered lesions of the same lineage as tumors of the PEComa family. Histologically, a common PEComa shows solid or sheet-like proliferation of epithelioid cells. This is accompanied by an increase in the number of dilated blood vessels. Here, we report a case of pancreatic PEComa with marked inflammatory cell infiltration.
CASE PRESENTATION
A 74-year-old male patient underwent an appendectomy for acute appendicitis. Postoperative computed tomography and magnetic resonance imaging revealed a 30 × 25 mm non-contrast-enhanced circular lesion in the tail of the pancreas. The imaging findings were consistent with a malignant tumor, and distal pancreatectomy was performed. Histologically, most area of the lesion was infiltrated with inflammatory cells. A few epithelioid cells with large, round nuclei, distinct nucleoli, and eosinophilic granular cytoplasm were observed. Spindle-shaped tumor cells were observed. Delicate and dilated blood vessels were observed around the tumor cells. Immunohistochemically, the atypical cells were positive for αSMA, Melan A, HMB-45, and TFE3. The cytological characteristics of the tumor cells and the results of immunohistochemical staining led to a diagnosis of pancreatic PEComa.
CONCLUSIONS
A histological variant known as the inflammatory subtype has been defined for hepatic AML. A small number of tumor cells present with marked inflammatory cell infiltration, accounting for more than half of the lesions, and an inflammatory myofibroblastic tumor-like appearance. To our knowledge, this is the first report of pancreatic PEComa with severe inflammation. PEComa is also a generic term for tumors derived from perivascular epithelioid cells, such as AML, CCST, and LAM. Thus, this case is considered an inflammatory subtype of PEComa. It has a distinctive morphology that is not typical of PEComa. This histological phenotype should be widely recognized.
Topics: Male; Female; Humans; Aged; Biomarkers, Tumor; Immunohistochemistry; Perivascular Epithelioid Cell Neoplasms; Kidney Neoplasms; Pancreas; Leukemia, Myeloid, Acute
PubMed: 38622713
DOI: 10.1186/s13000-024-01485-2 -
Cureus Mar 2024Wunderlich syndrome (WS) is characterized by spontaneous renal or perinephric hemorrhage in the absence of known trauma. WS is much rarer than haemorrhage caused by...
Wunderlich syndrome (WS) is characterized by spontaneous renal or perinephric hemorrhage in the absence of known trauma. WS is much rarer than haemorrhage caused by iatrogenic or traumatic conditions. The classic WS presentation of Lenk's triad of acute onset flank pain, flank mass, and hypovolemic shock is seen in less than a quarter of patients. The majority of patients present with only isolated flank pain and are frequently imaged in the emergency department with an unenhanced computed tomography (CT). The underlying aetiology varies, with the majority of cases attributed to neoplasms, vascular disease, cystic renal disease, and anticoagulation. We hereby present a case of an 80-year-old female who presented with severe discomfort in her left flank for three days in the absence of trauma. The patient was brought in a state of hypovolemic shock. After a thorough evaluation, a diagnosis of WS secondary to angiomyolipoma was made, for which selective angioembolization of the left renal artery was performed. However, due to further deterioration, a left nephrectomy had to be performed. The patient had an uneventful recovery and showed no deterioration on follow-up. The treatment modalities are vivid depending on the hemodynamic status of the patient, ranging from conservative management to operative intervention, and should be tailored to the vital state on admission.
PubMed: 38618421
DOI: 10.7759/cureus.56126 -
Respirology Case Reports Apr 2024Lymphangioleiomyomatosis (LAM) represents a rare, insidiously progressive disease of the pulmonary system, marked by cystic degradation of lung tissues leading to...
Lymphangioleiomyomatosis (LAM) represents a rare, insidiously progressive disease of the pulmonary system, marked by cystic degradation of lung tissues leading to respiratory compromise. Pulmonary LAM has been identified as being associated with tuberous sclerosis complex (TSC) in its pulmonary manifestation (TSC-LAM), a multisystem genetic disorder resulting from mutations in either the or genes. Herein, we describe an early 20s female admitted to the hospital with dyspnea, chest pain, hypopigmented macules, and facial fibroadenomas. She has a medical history of renal angiomyolipomas (ALMs) and pneumothoraces. Diagnosis with LAM was confirmed through high-resolution computed tomography (HRCT) scan and histopathology of lung biopsy. Whole exome sequencing analysis identified a frameshift mutation c.4504del (p.L1502Cfs*74) in the patient's gene. This variant was de novo due to its absence in the patient's parents. This is the first report on the clinical and genetic etiology of TSC-LAM in Vietnam.
PubMed: 38596252
DOI: 10.1002/rcr2.1346 -
Radiology Case Reports Jun 2024Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that primarily affects the central nervous system and various body organs. This case series describes the...
Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that primarily affects the central nervous system and various body organs. This case series describes the case history of 2 siblings from the same parents who were diagnosed with TSC. Case 1 is a 13-year-old girl with bilateral renal AML (angiomyolipoma), multiple fat nodules in the liver, and subependymal nodules with tubers revealed in the brain magnetic resonance imaging (MRI). Case 2 is her brother, a 6-year-old boy, who presented with manifestations of subependymal giant cell astrocytoma (SEGA) and renal AML. TSC must be managed with early diagnosis and intervention due to the risk of hamartoma enlargement. These 2 cases found in siblings underline the varied clinical presentations of TSC and the complexities faced by families with TSC. Early diagnosis is important to avoid TSC-related complications because, as time goes by, the disease will impact the patient's quality of life and increase morbidity and mortality. This case series also highlights the advantages of dermatological screening for the early detection of TSC, family screening, the need for multiple imaging modalities and counseling of family members with TSC, as well as the need for ongoing follow-up of this rare disorder.
PubMed: 38596180
DOI: 10.1016/j.radcr.2024.03.002 -
Beijing Da Xue Xue Bao. Yi Xue Ban =... Apr 2024To investigate the effect of different surgical timing on the surgical treatment of renal angiomyolipoma (RAML) with rupture and hemorrhage.
OBJECTIVE
To investigate the effect of different surgical timing on the surgical treatment of renal angiomyolipoma (RAML) with rupture and hemorrhage.
METHODS
The demographic data and perioperative data of 31 patients with rupture and hemorrhage of RAML admitted to our medical center from June 2013 to February 2023 were collected. The surgery within 7 days after hemorrhage was defined as a short-term surgery group, the surgery between 7 days and 6 months after hemorrhage was defined as a medium-term surgery group, and the surgery beyond 6 months after hemorrhage was defined as a long-term surgery group. The perioperative related indicators among the three groups were compared.
RESULTS
This study collected 31 patients who underwent surgical treatment for RAML rupture and hemorrhage, of whom 13 were males and 18 were females, with an average age of (46.2±11.3) years. The short-term surgery group included 7 patients, the medium-term surgery group included 12 patients and the long-term surgery group included 12 patients. In terms of tumor diameter, the patients in the long-term surgery group were significantly lower than those in the recent surgery group [(6.6±2.4) cm (10.0±3.0) cm, =0.039]. In terms of operation time, the long-term surgery group was significantly shorter than the mid-term surgery group [(157.5±56.8) min (254.8±80.1) min, =0.006], and there was no significant difference between other groups. In terms of estimated blood loss during surgery, the long-term surgery group was significantly lower than the mid-term surgery group [35 (10, 100) mL 650 (300, 1 200) mL, < 0.001], and there was no significant difference between other groups. In terms of intraoperative blood transfusion, the long-term surgery group was significantly lower than the mid-term surgery group [0 (0, 0) mL 200 (0, 700) mL, =0.014], and there was no significant difference between other groups. In terms of postoperative hospitalization days, the long-term surgery group was significantly lower than the mid-term surgery group [5 (4, 7) d 7 (6, 10) d, =0.011], and there was no significant difference between other groups.
CONCLUSION
We believe that for patients with RAML rupture and hemorrhage, reoperation for more than 6 months is a relatively safe time range, with minimal intraoperative bleeding. Therefore, it is more recommended to undergo surgical treatment after the hematoma is systematized through conservative treatment.
Topics: Male; Female; Humans; Adult; Middle Aged; Kidney Neoplasms; Angiomyolipoma; Hemorrhage; Rupture; Hospitalization; Retrospective Studies; Treatment Outcome
PubMed: 38595253
DOI: 10.19723/j.issn.1671-167X.2024.02.020 -
Frontiers in Oncology 2024Angiomyolipoma with epithelial cysts (AMLEC) is an extremely rare subtype of kidney angiomyolipoma that contains epithelial-lined cysts. The most distinctive...
BACKGROUND
Angiomyolipoma with epithelial cysts (AMLEC) is an extremely rare subtype of kidney angiomyolipoma that contains epithelial-lined cysts. The most distinctive immunohistochemical feature of AMLEC is its immunoreactivity with melanocytic markers. AMLEC also has a distinct histological structure, which aids in its pathological diagnosis. To date 27 cases of AMLEC have been reported in 11 case series. However, the molecular biology underlying the pathogenesis of AMLEC remains unexplored.
CASE REPORT
A 30-year-old female was diagnosed with AMLEC and underwent partial nephrectomy. Histologically, the cross-section of cystic tissue revealed a multilocular appearance, with some cysts containing thrombus-like material, and the wall thickness was approximately 0.2 ~ 0.3 cm. Additionally, the compact subepithelial cellular stroma showed strong and diffuse nuclear labeling for estrogen receptor, progesterone receptor, and CD10, as well as HMB45 and Melan A, which are markers of melanocytic differentiation. Furthermore, using a DNA targeted sequencing panel with next-generation sequencing, we identified a nonsense mutation in TSC Complex Subunit 2 ( gene, resulting in the formation of a premature termination codon. Moreover, the mutated genes found to be enriched in the PI3K-AKT pathway. The patient in this case had a favorable postoperative follow-up at 3 months.
CONCLUSION
To the best of our knowledge, this study represents the first analysis of genotype mutations in AMLEC, providing valuable insights for future clinical practice. These findings have significant potential in guiding the understanding and management of AMLEC, paving the way for further research and advancements in the field.
PubMed: 38590655
DOI: 10.3389/fonc.2024.1274953 -
Cureus Mar 2024Renal angiomyolipoma (AML) is a rare benign tumor of the kidney that can occur as a sporadic lesion or a part of tuberous sclerosis. A 77-year-old female patient with a...
Renal angiomyolipoma (AML) is a rare benign tumor of the kidney that can occur as a sporadic lesion or a part of tuberous sclerosis. A 77-year-old female patient with a history of hypertension, hyperlipidemia, and an unclear history of left nephrectomy in 1999 presented with progressive shortness of breath and palpitations. Her vital signs showed elevated blood pressure, and the examination was benign and non-focal. A work-up showed multiple lesions in her lungs and right kidney, representing lymphangioleiomyomatosis. The patient was diagnosed with tuberous sclerosis and was followed up by pulmonology and nephrology. She underwent embolization of the renal AML, after which her blood pressure (BP) was more controlled, and she reported feeling well and symptom-free. Renal AML, as a part of tuberous sclerosis, is a rare cause of secondary hypertension. Embolization of AML is effective in controlling BP.
PubMed: 38567223
DOI: 10.7759/cureus.55410 -
Autopsy & Case Reports 2024The present work reports the autopsy findings of a unique case characterized by fatal retroperitoneal hemorrhage following the traumatic rupture of bilateral renal...
The present work reports the autopsy findings of a unique case characterized by fatal retroperitoneal hemorrhage following the traumatic rupture of bilateral renal angiomyolipomas. Renal angiomyolipomas are generally benign tumors with an unpredictable clinical course, ranging from asymptomatic to sudden rupture and hemorrhagic shock. They may be associated with genetic disorders such as tuberous sclerosis complex. The case under investigation is unprecedented in the medical literature due to its bilateral nature and fatal outcome. Autopsy analysis revealed an extensive retroperitoneal hemorrhage originating from bilateral ruptured tumors. Microscopic examination found features consistent with bilateral renal angiomyolipoma. Circumstantial information identified a traffic accident before the death, considering it as the cause of the tumors' traumatic rupture. In this case, due to the severity of the situation, immediate medical measures-such as fluid resuscitation, coagulopathy correction, and surgical treatment, which are usually lifesaving-could not be performed. This led to the patient being declared dead at the scene of the crash.
PubMed: 38562647
DOI: 10.4322/acr.2024.482 -
Archives of Pathology & Laboratory... Mar 2024Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors of uncertain histogenesis expressing smooth muscle and melanocytic markers. The...
CONTEXT.—
Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors of uncertain histogenesis expressing smooth muscle and melanocytic markers. The clinicopathologic spectrum in young patients is not well documented.
OBJECTIVE.—
To describe a multi-institutional series of PEComas in children, adolescents, and young adults.
DESIGN.—
PEComas, not otherwise specified (NOS); angiomyolipomas (AMLs); lymphangioleiomyomatosis; and clear cell sugar tumors were retrospectively identified from 6 institutions and authors' files.
RESULTS.—
Seventy PEComas in 64 patients (median age, 15 years) were identified. They were more common in females (45 of 64 patients), occurring predominately in kidney (53 of 70), followed by liver (6 of 70). Thirty-four patients had confirmed tuberous sclerosis complex (TSC), 3 suspected TSC mosaicism, 2 Li-Fraumeni syndrome (LFS) and 1 neurofibromatosis type 1. Most common variants were classic (49 of 70) and epithelioid (8 of 70) AML. Among patients with AMLs, most (34 of 47) had TSC, and more TSC patients had multiple AMLs (15 of 36) than non-TSC patients (2 of 13). Two TSC patients developed malignant transformation of classic AMLs: 1 angiosarcomatous and 1 malignant epithelioid. Lymphangioleiomyomatosis (5 of 70) occurred in females only, usually in the TSC context (4 of 5). PEComas-NOS (6 of 70) occurred exclusively in non-TSC patients, 2 of whom had LFS (2 of 6). Three were malignant, 1 had uncertain malignant potential, and 2 were benign. All 4 PEComas-NOS in non-LFS patients had TFE3 rearrangements.
CONCLUSIONS.—
Compared to the general population, TSC was more prevalent in our cohort; PEComas-NOS showed more frequent TFE3 rearrangements and possible association with LFS. This series expands the spectrum of PEComas in young patients and demonstrates molecular features and germline contexts that set them apart from older patients.
PubMed: 38547914
DOI: 10.5858/arpa.2023-0552-OA -
Medicina (Kaunas, Lithuania) Feb 2024A primary liver perivascular epithelioid cell tumor (PEComa) is an extremely rare entity. In this article, we present a case report with a review of the literature on... (Review)
Review
A primary liver perivascular epithelioid cell tumor (PEComa) is an extremely rare entity. In this article, we present a case report with a review of the literature on the patients diagnosed with primary liver PEComa and an elaboration of diagnostic and treatment modalities. A systematic literature search was conducted using the terms "perivascular epithelioid cell tumor", "PEComa", "liver", and "hepatic". All articles describing patients diagnosed with primary liver PEComa were included. We identified a total of 224 patients of primary liver PEComa from 75 articles and a case from the present study with a significant preponderance of females (ratio 4:1) and with a mean age of 45.3 ± 12.1 years. Most of the patients (114 out of 224, 50.9%) were asymptomatic. A total of 183 (81.3%) patients underwent surgical hepatic resection at the time of diagnosis, while 19 (8.4%) underwent surveillance. Recurrence and metastases were detected in seven (3.1%) and six (2.7%) patients, respectively. In conclusion, surgical resection remains the cornerstone of therapy; however, the presence of nonspecific imaging features makes it difficult to reach a definite diagnosis preoperatively. Therefore, a multidisciplinary approach should be the gold standard in selecting the treatment modality.
Topics: Female; Humans; Adult; Middle Aged; Gastrointestinal Neoplasms; Liver Neoplasms; Perivascular Epithelioid Cell Neoplasms; Angiomyolipoma
PubMed: 38541135
DOI: 10.3390/medicina60030409