ACR Appropriateness Criteria® Soft Tissue Vascular Anomalies: Vascular Malformations and Infantile Vascular Tumors (Non-CNS)-Child.

Soft tissue vascular anomalies may be composed of arterial, venous, and/or lymphatic elements, and diagnosed prenatally or later in childhood or adulthood. They are divided into categories of vascular malformations and vascular tumors. Vascular malformations are further divided into low-flow and fast-flow lesions. A low-flow lesion is most common, with a prevalence of 70%. Vascular tumors may behave in a benign, locally aggressive, borderline, or malignant manner. Infantile hemangioma is a vascular tumor that presents in the neonatal period and then regresses. The presence or multiple skin lesions in an infant can signal underlying visceral vascular anomalies, and complex anomalies may be associated with overgrowth syndromes. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.

A rare case of epithelioid angiosarcoma.

Epithelioid angiosarcoma is a rare high-grade vascular neoplasm with a poor prognosis. We present an anticoagulated 77-year-old man, with a history of popliteal/soleal vein thrombosis in the previous month, complaining of ipsilateral persistent lower limb pain and claudication. Absent popliteal/distal pulses prompted an arterial doppler ultrasound (DUS), revealing thrombosis of the distal superficial femoral artery and a popliteal mass. As the arterial wall's integrity could not be appropriately evaluated by DUS, adventitial cystic disease of the popliteal artery was suspected. Computed tomography angiography and magnetic resonance imaging findings were also suggestive. Due to refractory pain, he was submitted to a popliteal mass excision along with a femoral-posterior tibial bypass. Pathology revealed an epithelioid angiosarcoma. He was referred to a Sarcoma Center, requiring hospitalization for agitation and fever. A positron emission tomography (PET) scan revealed extensive lower limb disease persistence and distant metastases. He died on the 56th day after surgery. To our knowledge, there are only 15 cases of angiosarcoma of the popliteal artery described in the literature. Ours stands out as the first one unrelated to a popliteal aneurysm. Being a highly-aggressive tumor, an early diagnosis is challenging but essential to a successful treatment, warranting the need for suspicion of this neoplasm. An early core biopsy or surgical sample may expedite the diagnosis.

Pulmonary artery sarcoma affecting the pulmonary valve mistaken as pulmonary vasculitis: a case report and comparative literature review.

Pulmonary arterial sarcomas (PAS) are rare aggressive tumours occurring mainly in the pulmonary trunk. We report a case of PAS involving the pulmonary trunk wall and valve, with uniform wall thickening which represents an atypical imaging manifestation of this tumour. A 63-year-old male presented with vague respiratory symptoms with rapid progression. CTPA showed low density filling defects in both pulmonary arteries and PET scan showed increased uptake in the pulmonary trunk, which along with raised ESR suggested Pulmonary Vasculitis. Echo imaging showed Right ventricular hypertrophy and pulmonary stenosis. Response to steroid therapy was minimal and his symptoms worsened. A referral for second opinion was made and he was diagnosed with PAS. He underwent Pulmonary thromboendarterectomy with Pulmonary valve replacement. Post-operative histopathology confirmed the diagnosis. PAS is rare and frequently misdiagnosed. Surgical resection is not curative, but together with chemotherapy can prolong survival.

Tislelizumab combined with GT chemotherapy for intimal sarcoma of inferior vena cava: A case report.

RATIONALE: Intimal sarcoma of inferior vena cava (IVC) is a rare soft tissue sarcoma with no typical symptoms and specific imaging features in the early stage, and there is a lack of standardized treatment and methods. PATIENT CONCERNS: A 54-year-old female patient presented to Fenghua District People's Hospital with a post-active cough and hemoptysis and was subsequently referred to our hospital. DIAGNOSES: The patient was pathologically diagnosed as intimal sarcoma of IVC complicating multiple intrapulmonary metastases. Chest CT revealed left lung malignant tumor with multiple intrapulmonary metastases; while enhanced upper abdominal CT showed cancer embolus of IVC with extension to right atrium and bilateral renal veins. Besides, hematoxylin and eosin staining suggested intimal sarcoma of veins. Immunohistochemical staining showed positivity for PD-L1, Ki-67, CD31, Desmin and ERG. INTERVENTIONS: The patient initially received GT chemotherapy (gemcitabine injection + docetaxel). Then, immunotherapy (tislelizumab) was added based on the results of genetic testing (TP53 gene mutation). OUTCOMES: The disease was stabilized after receiving the treatment. LESSONS: Given the lack of characteristic clinical manifestations in patients with intimal sarcoma of IVC, imaging examination combined with immunohistochemical index were helpful for diagnosis of intimal sarcoma of IVC. Furthermore, the combination of tislelizumab and GT chemotherapy was feasible in such patients with positive PD-L1 expression and TP53 mutation.

[Portal leiomyosarcoma: An extremely rare location!] / Léiomyosarcome portal : une localisation extrêmement rare !

Leiomyosarcomas of large vessels are rare. It is a malignant tumour and the vast majority of these tumours arose from the inferior vena cava. We report a rare case of portal vein leiomyosarcoma, in a 56-years-old female patient admitted for chronic abdominal pain with abdominal mass in the right hypochondrium all evolving in a context of deterioration in general condition. We performed an abdominopelvic CT scan and then a MRI with contrast agent which objectified a large tissue mass containing areas of necrosis at the level of the duodeno-pancreatic compartment communicating at a large angle with the portal trunk over its entire length from the hepatic hilum to the spleno-mesenteric confluence responsible for a portal cavernoma downstream. This is associated with multiple secondary nodular tissue hepatic lesions. We also noted a respect for the fatty border separating the mass of the duodenal tract and the head of the pancreas, and also the absence of dilation of the pancreatic ducts making a pancreatic origin unlikely. To eliminate a duodenal origin of the mass we performed an upper digestive endoscopy which came back without any abnormality. An ultrasound-guided trans parietal biopsy of a secondary hepatic lesion was done and the pathological result of which speaks of a secondary hepatic lesion of a leiomyosarcoma.

Infantile Hemangiomas and Vascular Anomalies.

Vascular anomalies represent a diverse group of disorders of abnormal vascular development or proliferation. Vascular anomalies are classified as vascular tumors and vascular malformations. Significant advances have been made in the understanding of the pathogenesis, natural history, and genetics of vascular anomalies, allowing for improvements in management including targeted molecular therapies. Infantile hemangiomas are the most common vascular tumor of childhood and follow a distinct natural history of proliferation and involution. Although benign, infantile hemangiomas can be associated with important complications. The use of beta-blockers has revolutionized the management of infantile hemangiomas. Other vascular tumors include pyogenic granulomas, congenital hemangiomas, and kaposiform hemangioendotheliomas, among others. Vascular malformations are categorized based on the type of involved vessel, including capillary malformations, venous malformations, lymphatic malformations, arteriovenous malformations, and mixed vascular malformations. Expert multidisciplinary management of vascular anomalies is critical to optimize outcomes in these patients. [Pediatr Ann. 2024;53(4):e129-e137.].

Thrombus or tumor? A case report of a rare sarcoma entity: intimal sarcoma of the pulmonary arteries.

BACKGROUND: Tumor embolism is a very rare primary manifestation of cancers and the diagnosis is challenging, especially if located in the pulmonary arteries, where it can mimic nonmalignant pulmonary embolism. Intimal sarcoma is one of the least commonly reported primary tumors of vessels with only a few cases reported worldwide. A typical location of this malignancy is the pulmonary artery. Herein, we present a case report of an intimal sarcoma with primary manifestation in the pulmonary arteries. A 53-year-old male initially presented with dyspnea. On imaging, a pulmonary artery embolism was detected and was followed by thrombectomy of the right ventricular outflow tract, main pulmonary artery trunk, and right pulmonary artery after ineffective lysis therapy. Complementary imaging of the chest and abdomen including a PET-CT scan demonstrated no evidence of a primary tumor. Subsequent pathology assessment suggested an intimal sarcoma further confirmed by DNA methylation based molecular analysis. We initiated adjuvant chemotherapy with doxorubicin. Four months after the completion of adjuvant therapy a follow-up scan revealed a local recurrence without distant metastases. DISCUSSION: Primary pulmonary artery intimal sarcoma (PAS) is an exceedingly rare entity and pathological diagnosis remains challenging. Therefore, the detection of entity-specific molecular alterations is a supporting argument in the diagnostic spectrum. Complete surgical resection is the prognostically most important treatment for intimal cardiac sarcomas. Despite adjuvant chemotherapy, the prognosis of cardiac sarcomas remains very poor. This case of a PAS highlights the difficulty in establishing a diagnosis and the aggressive natural course of the disease. CONCLUSION: In case of atypical presentation of a pulmonary embolism, a tumor originating from the great vessels should be considered. Molecular pathology techniques support in establishing a reliable diagnosis.

Optimizing random skin biopsies: a review of techniques and indications for intravascular large B-cell lymphoma.

Intravascular large B-cell lymphoma (IVLBCL), a rare subtype of malignant lymphoma, is diagnosed by observation of intravascular proliferation of tumor cells in samples taken from affected organs. However, diagnosis of IVLBCL is usually difficult due to the lack of mass formation. IVLBCL may be fatal when the diagnosis is delayed, so an accurate early diagnosis is the key to successful treatment. Random skin biopsy (RSB), in which specimens are sampled from normal-appearing skin, has been reported as useful. However, the specific method of RSB remains controversial, with individual institutions using either the punch method or the incisional method. Research has shown that the incisional method has higher sensitivity than the punch method. We discuss whether this difference might owe to the collection of punch specimens from an insufficient depth and whether the punch method might result in false negatives. For RSB, we recommend taking specimens not only from normal-appearing skin, but also from any lesional skin, because lesions may reflect micro IVLBCL lesions. To ensure accurate diagnosis, both dermatologists and hematologists should know the proper method of RSB. This review summarizes the appropriate biopsy method and sites for RSB.

Infantile hemangioma: the common and enigmatic vascular tumor.

Infantile hemangioma (IH) is a benign vascular tumor that occurs in 5% of newborns. The tumor follows a life cycle of rapid proliferation in infancy, followed by slow involution in childhood. This unique life cycle has attracted the interest of basic and clinical scientists alike as a paradigm for vasculogenesis, angiogenesis, and vascular regression. Unanswered questions persist about the genetic and molecular drivers of the proliferating and involuting phases. The beta blocker propranolol usually accelerates regression of problematic IHs, yet its mechanism of action on vascular proliferation and differentiation is unclear. Some IHs fail to respond to beta blockers and regrow after discontinuation. Side effects occur and long-term sequelae of propranolol treatment are unknown. This poses clinical challenges and raises novel questions about the mechanisms of vascular overgrowth in IH.

Contrast-Enhanced Ultrasonography in Diagnosing Intravascular Large B-Cell Lymphoma Infiltrating Liver Sinusoids.

BACKGROUND Intravascular large B-cell lymphoma (IVLBCL) is a rare extranodal large B-cell lymphoma characterized by the selective growth of lymphoma cells within vasculature. This presents a diagnostic challenge due to non-specific symptoms and lack of tumor formation. 18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG PET/CT) provides useful information in diagnosing FDG-avid lymphoma, but is not specific to  IVLBCL. Contrast-enhanced ultrasonography (CEUS) is useful in evaluating focal liver lesions; however, its efficacy in diagnosing IVLBCL involving the liver remains unknown. CASE REPORT We report the case of an 83-year-old woman presenting with fever, pancytopenia, liver dysfunction, and elevated LD and soluble interleukin-2 receptor levels. PET-CT showed multiple uptake lesions in the liver. We performed CEUS with Sonazoid® to evaluate the mass-like lesions; however, no nodular lesions were observed in B mode images. Systemic enhancement was seen in the early phase but no defect was observed in the post-vascular phase. The latter finding suggested preserved Kupffer cells function, excluding tumor-forming lymphoma and liver metastases. Suspecting IVLBCL, we performed a bone marrow examination, which showed sinusoidal infiltration of large neoplastic cells positive for CD20. The patient's condition deteriorated rapidly and she died 2 days after the examination. Autopsy revealed diffuse infiltration of lymphoma cells into liver sinusoids with preserved Kupffer cells, leading to the diagnosis of IVLBCL. CONCLUSIONS Our case shows that CEUS can distinguish IVLBCL from mass-forming lymphoma based on the absence of a defect in the post-vascular phase in a patient with clinically and radiographically suspected lymphoma involving the liver. This can assist clinicians to select appropriate lesions for biopsy.

Cellular Cutaneous Epithelioid Hemangioma Harboring the Rare GATA6::FOXO1 Gene Fusion.

ABSTRACT: Epithelioid hemangioma (EH) is a benign vascular tumor displaying diverse histomorphologies. Among these, one EH subtype comprises cellular sheets of atypical epithelioid cells, posing potential challenges in distinguishing it from malignant vascular lesions. In this case report, we present a cutaneous cellular EH that carries the rare GATA6::FOXO1 gene fusion, a recent discovery. Our aim is to provide an updated insight into the evolving knowledge of EHs while delving into the histologic and molecular characteristics of the primary differential diagnoses.

Intravascular large B-cell lymphoma of the eye: Literature review and new findings.

PURPOSE: Intravascular large B-cell lymphoma (IVLBCL) is an extremely rare, aggressive, multi-system disease that can affect the eye. We describe the ophthalmic presentation, multimodal imaging and treatment response of uveal IVLBCL. METHODS: Review and case report. RESULTS: Twenty-five published cases of IVLBCL involving the eye including our own were identified. Of these, 15 patients (60%) had clinically-detectable intraocular involvement, 6 (24%) had extraocular ophthalmic involvement only and 4 (16%) had subclinical, undiagnosed intraocular involvement that was retrospectively detected on post-mortem ocular histopathology. The male to female ratio was 1.08:1 with a mean presenting age of 65.1 ± 11.7 years (range 38-82 years). The majority of cases had bilateral involvement (21/25 patients, 84%). Extraocular manifestations included diplopia, ptosis and ophthalmoplegia. Intraocular manifestations included serous retinal detachment (13/28, 46%), retinal hemorrhages (9/28, 32%), vascular changes (9/28, 32%), retinal pigment epithelial changes (7/28, 25%), thickened choroid (6/28, 21%), vitritis (5/28, 17%), cotton-wool spots (3/28, 10%), and a subretinal lesion (1/28, 3%). Histopathological diagnosis was most commonly confirmed on post-mortem enucleation (8/25 patients, 32%), skin (6/25 patients, 24%) or brain biopsy (6/25 patients, 24%). CONCLUSION: The presence of intra-retinal hemorrhages, cotton wool spots and/or Roth spots help differentiate IVLBCL from other similarly presenting diseases such as central serous chorioretinopathy and Vogt-Koyanagi-Harada disease. New signs not previously described in IVLBCL include macular bacillary layer detachment and hypo-cyanescent spots on ultra-wide field indocyanine green angiography. The diagnosis is elusive and requires tissue biopsy, but systemic chemotherapy and rituximab can lead to rapid improvement of the eye.

Insulin-like Growth Factor II mRNA-binding Protein 3 is a Highly Sensitive Marker for Intravascular Large B-cell Lymphoma: Immunohistochemical Analysis of 152 Pathology Specimens From 88 Patients.

Intravascular large B-cell lymphoma (IVLBCL) is a rare type of aggressive extranodal large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of blood vessels, particularly capillaries. IVLBCL lacks mass formation, and its diagnosis can be challenging. We analyzed the utility of insulin-like growth factor II mRNA-binding protein 3 (IMP3) immunohistochemistry for IVLBCL diagnosis in various organs. Double staining with paired box 5 (PAX5) was performed for validation. Overall, 152 pathological specimens (111 positive and 41 negative for IVLBCL) obtained from 88 patients with a diagnosis of IVLBCL were stained for IMP3 and IMP3/PAX5. As negative controls, 40 pathology specimens from 38 patients with no history of IVLBCL or other B-cell lymphomas were stained for IMP3, which comprised 31 benign pathological specimens from 29 patients in whom malignancy was suspected, 7 cases of appendicitis with intravascular and/or intralymphatic lymphoid proliferations, and 2 cases of intravascular natural killer/T-cell lymphoma. All mononuclear cells with cytoplasmic staining were considered positive for IMP3 expression, but expression restricted to germinal center B cells was excluded from evaluation. All 111 IVLBCL pathological specimens were positive for IMP3 and IMP3/PAX5. In addition, 11 of the 41 specimens originally diagnosed as IVLBCL-negative showed IMP3/PAX5 double-positive cells, raising the suspicion of IVLBCL. However, of the 40 negative control samples, IMP3-positive non-germinal center B cells were detected in only 2 samples ( P = 0.0131) and no intravascular IMP3-positive B cells suspicious for IVLBCL were identified. Altogether, IMP3 immunohistochemistry is a highly sensitive marker of IVLBCL and can be a helpful adjunct for IVLBCL diagnosis.

Analysis of risk factors for post-operative recurrence or progression of intravenous leiomyomatosis.

OBJECTIVE: To analyse the risk factors for post-operative recurrence or progression of intravenous leiomyomatosis and explore the impact of different treatment strategies on patient prognosis. METHODS: Patients with intravenous leiomyomatosis who underwent surgery from January 2011 to December 2020 and who were followed for ≥3 months were included. The primary endpoint was recurrence (for patients with complete resection) or progression (for patients with incomplete resection). Kaplan-Meier survival analysis was used to analyse the factors affecting recurrence. RESULTS: A total of 114 patients were included. The median age was 45 years old (range 24-58). The tumors were confined to the uterus and para-uterine vessels in 48 cases (42.1%), while in 66 cases (57.9%) it involved large vessels (iliac vein or genital vein and/or proximal large veins). The median follow-up time was 24 months (range 3-132). Twenty-nine patients (25.4%) had recurrence or progression. The median recurrence or progression time was 16 months (range 3-60). Incomplete tumor resection (p=0.019), involvement of the iliac vein or genital vein (p=0.042), involvement of the inferior vena cava (p=0.025), and size of the pelvic tumor ≥15 cm (p=0.034) were risk factors for recurrence and progression. For intravenous leiomyomatosis confined to the uterus or para-uterine vessels, no post-operative recurrence after hysterectomy and bilateral oophorectomy occurred in this cohort. Compared with hysterectomy and bilateral oophorectomy, the risk of recurrence after tumorectomy (with the uterus and ovaries retained) was significantly greater (p=0.009), while the risk of recurrence after hysterectomy was not significantly increased (p=0.058). For intravenous leiomyomatosis involving the iliac vein/genital vein and the proximal veins, post-operative aromatase inhibitor treatment (p=0.89) and two-stage surgery (p=0.86) were not related to recurrence in patients with complete tumor resection. CONCLUSION: Incomplete tumor resection, extent of tumor lesions and size of the pelvic tumor were risk factors for post-operative recurrence and progression of intravenous leiomyomatosis.

Resection of primary left renal vein leiomyosarcoma with renal preservation following an unusual clinical presentation.

An elderly man was referred to vascular surgery on incidental discovery of a left retroperitoneal mass ultimately found to be of left renal vein (LRV) origin. He initially presented with recurring lower back pain. CT of the abdomen/pelvis showed a 6.0×5.5 cm lobulated retroperitoneal mass anterior to the infrarenal aorta. Resection of the mass necessitated a multidisciplinary team consisting of medical oncologists, radiation oncologists, urologists and vascular surgeons. In efforts to obtain an R0 margin, en-bloc resection of the LRV from its confluence with the inferior vena cava (IVC) was necessary. A primary repair of the IVC was performed with preservation of the left kidney. The patient's back pain has since resolved after the surgery. A literature search found IVC reconstructions to be safe and effective in the removal of vascular leiomyosarcomas.

Spontaneous eruptive disseminated lobular capillary haemangioma.

Lobular capillary haemangioma (LCH), previously known as pyogenic granuloma, is a benign vascular tumour of the skin or mucosa. We report a patient with spontaneous eruption of LCH, a rare occurrence, which resolved probably due to reverse koebnerisation.

Clinical outcomes after inferior vena cava resection for malignant disease. A single center experience of 51 vena cava resections.

BACKGROUND AND OBJECTIVE: For tumors involving inferior vena cava (IVC), surgery with complete resection remains the first line treatment. Management of IVC after resection, either ligation without reconstruction or primary reconstruction, is debated. Our study aimed to evaluate type of venous reconstruction, anticoagulation management and morbidity. METHODS: A French single center database of patients who underwent partial or total circumferencial resection of the IVC for malignant disease was analyzed. Inclusion criteria were any oncologic procedure for a retroperitoneal neoplasm requiring concomitant resection of the IVC with or without venous reconstruction with prosthesis. Exclusion criteria were surgery before year 2000. Data were descriptive and reverse Kaplan Meier was used for follow-up calculation. The endpoints were the rate of prosthetic reconstruction, the use of anticoagulation and the post-operative outcomes. RESULTS: Fifty - one patients were included with a median duration of follow-up of 54.8 months. The majority of patients were men (56.9%). Median age of the population was 44.1 years. Most of the patients underwent surgery for primary testicular cancer and for sarcoma. Complete IVC resections were performed in 46 (90,2%) patients, 32 having a concomitant prosthetic replacement. Eight patients underwent aortic resection in the same operative time. Postoperative morbidity was 33.3%. Post-operative anticoagulation was done in 24 patients. At 1 month, four patients developed thrombosis in the prosthesis. CONCLUSIONS: IVC resections are feasible and safe. Venous reconstruction and postoperative management were planned according to the preoperative imaging and intraoperative findings. We propose a decision-tree for peri-operative management and anticoagulation.

Vascular tumors of intermediate malignancy: An update.

The term "hemangioendothelioma" is used for endothelial neoplasms of intermediate malignancy and describes a group of rare neoplasms having biologic behavior falling in between that of the benign hemangiomas and fully malignant angiosarcomas. The hemangioendotheliomas fall into several specific, clinicopathologically and genetically distinct entities, specifically epithelioid hemangioendothelioma, kaposiform hemangioendothelioma, papillary intralymphatic angioendothelioma and retiform hemangioendothelioma (hobnailed hemangioendothelioma), pseudomyogenic hemangioendothelioma, composite hemangioendothelioma, and YAP1::TFE3-fused hemangioendothelioma. The clinical, morphologic, immunohistochemical, and genetic features, and the differential diagnosis of each of these rare entities are discussed in this review.