Visceral Involvement Research Articles

Clinicopathological Characteristics and Prognosis of Squamous Cell Carcinoma of the Breast: A Population-Based Analysis

BackgroundTo better understand the clinicopathological features and prognostic profiles of squamous cell carcinoma (SCC) of the breast.MethodsInformation on breast cancer was obtained from the Surveillance, Epidemiology, and End Results database (2004–2016). Comparative analyses were carried out to investigate the heterogeneity in the clinicopathological characteristics and survival outcomes between SCC and invasive ductal carcinoma (IDC), while propensity score matching was conducted to analyze the variations among baseline characteristics. Prognostic factors for SCC of the breast were successively identified using Cox regression analysis.ResultsA total of 382 SCC patients and 561477 IDC patients were identified in this study. Comparatively, the SCC cohort exhibited a higher proportion of male individuals, poor differentiation, an advanced TNM stage, an increasing percentage of triple-negative (TN) subtype, an increasing rate of organ involvement, and less access to therapeutics. The aggressive profile was consistent in the TN subgroup, with a significantly higher proportion in SCC than in IDC (25.7% vs 6.8%). Prognosis of SCC was profoundly poorer than that of IDC (mOS, 78.6 months and 121.6 months, P < .0001; mBCSS 91.9 months vs 135.6 months, P < .0001), of which the inferior tendency remained stable among disease stage and therapeutic options, while no difference was detected in the 2 subgroups with the TN subtype. The 2-year survival rate was 66.9% and the 5-year survival rate was 51.4%, with the risk factors being older age, bilateral disease, advanced TNM stage, bone and visceral involvement, surgical intervention, radiation treatment, and chemotherapy.ConclusionsThis study systematically analyzed the heterogeneous characteristics of SCC of the breast in comparison with IDC. Squamous cell breast cancer presented with increasing aggressive behavior and inferior prognosis. Prospective studies should focus on this subgroup and introduce individualized therapeutic protocols in clinical practice.

Segmental Zoster Paresis of Lower Thoracic Segment Presenting as Pseudohernia-A Report of Three Cases.

Segmental zoster paresis is characterized by focal motor weakness affecting the myotome corresponding to the dermatomal distribution of the rash. Clinically, it presents as pseudohernia when it involves abdominal wall muscles. We report three cases of segmental zoster paresis presenting as pseudohernia of abdominal wall. All patients developed asymptomatic bulge in anterolateral side of abdomen between 10 and 15 days after appearance of vesicles. All patients developed post-herpetic neuralgia. One patient developed pseudo-obstruction of colon due to visceral involvement. Segmental zoster paresis of lower thoracic spinal segment often goes unnoticed due to its asymptomatic nature.

Capecitabine in combination with bendamustine in pretreated women with HER2-negative metastatic breast cancer: results of a phase II trial (AGMT MBC-6).

Background:Bendamustine, a medication approved for the treatment of indolent non-Hodgkin lymphoma, has already shown anticancer activity in metastatic breast cancer (MBC). Here, we present the results of a phase II trial of bendamustine in combination with capecitabine in pre-treated patients with MBC.Patients and methods:AGMT MBC-6 is a multicentre, open-label, single-arm phase II study in HER2-negative MBC. All patients were pre-treated with anthracyclines and/or taxans and had measurable disease. Patients received per os 1000 mg/m2 capecitabine twice daily on days 1 to 14 in combination with 80 mg/m2 bendamustine intravenously on days 1 and 8 of a 3-week cycle for a maximum of eight cycles, followed by a capecitabine maintenance therapy. The primary endpoint was overall response rate (ORR).Results:From September 2013 to May 2015, 40 patients were recruited in eight Austrian centres. The median age was 60 years (range 29–77). Twenty-five per cent of patients had triple-negative breast cancer (TNBC) and 93% showed visceral involvement. With 17 partial and one complete remission, ORR was 46%. Median progression-free survival (PFS) was 7.5 months [95% confidence interval (CI) 6.1–10.7]. The most common non-haematological adverse events (AEs) of grade 3 were hand-foot syndrome (13%), fatigue (10%), nausea (8%), and dyspnoea (8%). One grade 4 non-haematological AE (hepatic failure) and three grade 4 haematological AEs (neutropenia) were observed. One patient died of restrictive cardiomyopathy, in which a relationship to capecitabine cannot be excluded, but seems unlikely.Conclusion:The combination of capecitabine and bendamustine shows promising efficacy and moderate toxicity. Further evaluation of this drug combination is warranted.The clinical trial AGMT MBC-6 was registered at ClinicalTrials.gov, (https://clinicaltrials.gov/; identifier: NCT01891227).

1106. The incidence and risk factors associated with varicella zoster virus infection in kidney transplant recipients after 1-month acyclovir prophylaxis in a CMV preemptive therapy era

BackgroundVaricella zoster virus (VZV) infection is a well-known opportunistic infection in solid organ transplant recipients. Since the various strategies of the use of anti-herpetic drugs including ganciclovir or acyclovir have evolved, the epidemiology of VZV infection is changing. However, there are limited data on the recent incidence and risk factors of post-transplant VZV infection in popular preemptive ganciclovir era for CMV infection. We evaluated the incidence, risk factors and clinical characteristic of patients with development of post-transplant VZV infection in kidney transplant (KT) recipients after 1-month acyclovir prophylaxis in the hospital that adopted preemptive ganciclovir therapy for CMV infection.MethodsAll adult patients with seropositive CMV antibody admitted to a KT unit from January 2014 to December 2017 were retrospectively reviewed in a tertiary-care hospital in South Korea. Our hospital adopted preemptive ganciclovir therapy for CMV infection in all CMV seropositive KT recipients. We administered acyclovir prophylaxis for 1-month to CMV seropositive KT recipients. The primary endpoint was VZV infection development after KT.ResultsA total of 1295 KT recipients was followed up for 4295.8 person-years. The median follow-up period was 46.6 months (interquartile range (IQR) 34.3-59.5). Of the 1295 recipients, 100 (7.7%, 2.33 per 100 person-years, 95% confidence interval (CI) 1.89-2.83) patients developed VZV infection after KT. The median time for VZV infection development was 9.5 months (IQR 4.7-22.1). All patients had VZV-associated skin lesion, 9 postherpetic neuralgia, 2 visceral involvement and 3 disseminated infection. Of 100 patients, 16 patients need hospitalization due to VZV infection. In multivariate analysis, deceased donor KT (Hazard ratio (HR) 1.6; 95% CI 1.0-2.39, p = 0.05), mycophenolate maintenance immunosuppressive therapy (HR 0.3; 95% CI 0.14-0.75, p = 0.01) and rejection episode (HR 0.31; 95% CI 0.14-0.71, p = 0.01) were independently associated with VZV infection development after KT.ConclusionAbout one tenth of CMV seropositive KT recipients developed zoster after 1-month ACV prophylaxis during CMV preemptive strategy, especially in those who received deceased donor KT, mycophenolate therapy, and rejection episodes.Disclosures All Authors: No reported disclosures

Langerhans Cell Histiocytosis-A Case Report

Langerhans Cell Histiocytosis (LCH) is among the group of diseases that was originally called Histiocytosis X. This syndrome has an unknown etiology and originates from an excessive proliferation of Langerhans cells. The histiocytes can cause the development of other pathological conditions. LCH has a predilection for men and children and is classified into the following three types: LCH with solitary lesion, multiple lesions and disseminated/with visceral involvement.

969. TNF-alpha inhibition in the setting of undiagnosed HIV infection: a call for enhanced screening guidelines

BackgroundDespite the risks of immunosuppression, recommendations regarding screening for HIV infection prior to initiation of biologic therapies targeting common autoimmune disorders, including inflammatory bowel disease (IBD) and inflammatory arthritides, are limited. Few cases of patients started on biologics while living with undiagnosed HIV have been reported.MethodsWe report 3 cases of patients initiated on biologics in the absence of recent or concurrent HIV screening who developed refractory disease or unanticipated complications and were later found to have undiagnosed chronic HIV infection.ResultsIn Case 1, a 53-year-old man who has sex with men (MSM) with negative HIV testing 10 years prior presented with presumed rheumatoid arthritis. He did not respond to methotrexate (MTX), so adalimumab (ADA) was started. HIV testing to evaluate persistent symptoms was positive 9 months later; CD4 was 800 cells/uL. Antiretroviral therapy (ART) resulted in resolution of symptoms, which were attributed to HIV-associated arthropathy.In Case 2, a 55-year-old woman with injection drug use in remission and no prior HIV testing presented with Hidradenitis Suppurativa (HS). She was initiated on infliximab (IFX) and MTX with good response. After she developed weight loss and lymphopenia, an HIV test was positive; CD4 was 334 cells/uL. Biologic HS therapy was discontinued, with subsequent poor HS control.In Case 3, a 32-year-old MSM with no prior HIV testing presented with presumed IBD; IFX and steroids were started. Symptoms progressed despite IBD-directed therapy, and he was diagnosed with extensive Kaposi Sarcoma (KS) with visceral and cutaneous involvement likely exacerbated by immunosuppression. HIV testing was positive; CD4 was 250 cells/uL. KS initially worsened due to ART-associated immune reconstitution inflammatory syndrome. He is now improving with systemic chemotherapy and ART. HIV-associated KS is presumed to be hte underlying diagnosis.ConclusionAll 3 patients had elevated risk for HIV infection, and 2 had final diagnoses attributed to chronic HIV infection, not warranting therapeutic immunosuppression. Screening for HIV infection prior to initiation of biologic therapy should be incorporated into clinical practice guidelines.Disclosures All Authors: No reported disclosures

Osseous Hydatid Disease – A Series of Cases

Hydatid disease (HD) in the human body is a known entity with liver and lungs being most commonly affected. The disease presentation is well documented. However, primary musculoskeletal HD without any other visceral involvement is uncommon and has a delayed presentation that is often misdiagnosed, especially if limited to the bone. Soft-tissue involvement, if present, can help identify if typical features described are present. We present three interesting cases that presented as diagnostic challenges with varied presentations. In the current scenario of migration and frequent travel, it is important to keep this entity in the vast list of differential diagnoses.

CD30+ Anaplastic Large-Cell Lymphoma in Children: Analysis of 82 Patients Enrolled in Two Consecutive Studies of the French Society of Pediatric Oncology

AbstractThe purpose of this study was (1) to investigate the efficacy of chemotherapy regimens designed by the French Society of Pediatric Oncology for childhood anaplastic large-cell lymphoma (ALCL) and (2) to identify prognostic factors in these children. Eighty-two children with newly diagnosed ALCL were enrolled in two consecutive studies, HM89 and HM91. The diagnosis of ALCL was based on immuno-morphological features and all the cases but 2 were investigated using ALK1 antibody directed to the NPM/ALK protein associated with the 2;5 translocation. Treatment consisted of 2 courses of COPADM (methotrexate, cyclophosphamide, doxorubicin, vincristine, and prednisone) and a maintenance treatment of 5 to 7 months. Seventy-eight patients (95%) achieved a complete remission and 21 relapsed. The probability of survival and event-free survival at 3 years was of 83% (72% to 90%) and 66% (54% to 76%), respectively, with a median follow-up of 49 months. In multivariate analysis, visceral involvement, mediastinal involvement, and lacticodeshydrogenase (LDH) level ≥800 UI/L were shown to be predictive of a higher risk of failure. In conclusion, this type of regimen demonstrated efficacy in childhood ALCL. However, therapeutic results have to be improved for children with adverse prognostic parameters such as visceral or mediastinal involvement or a high LDH level.

Degos-like lesions as a cutaneous manifestation of cytomegalovirus infection: A rare and serious complication in a patient with drug-induced hypersensitivity syndrome.

Cytomegalovirus causes a myriad of clinical features, potentially affecting any organ system, significantly increasing morbidity and even mortality. Vascular endothelial cell infection by cytomegalovirus has been implicated in the development of vasculopathy, possibly accounting for the clinical association between cytomegalovirus and vascular thrombosis. In contrast with visceral organ involvement, the cutaneous manifestations of cytomegalovirus are variable and rarely described. Malignant atrophic papulosis, commonly known as Degos disease, is an unusual small vessel arteriopathy with a pathognomonic clinical appearance of atrophic porcelain-white central papules surrounded by telangiectatic erythema. As with the arterial occlusive process, Degos disease may be idiopathic or secondary to autoimmune disorders or viral infection. All in all, cytomegalovirus-related Degos-like presentation has never been described. This report describes a case in which disseminated cytomegalovirus disease developed 4weeks after the onset of drug-induced hypersensitivity syndrome with prominent Degos-like skin lesions. Our case highlights a rare example of Degos-like lesions occurring due to cytomegalovirus disease and emphasizes the importance of early recognition of the characteristic cutaneous eruption as a diagnostic clue leading to the prompt management of this life-threatening infection.

Etiological factors of systemic sclerosis in the southeast region of Romania.

Systemic sclerosis (SSc) is a relatively rare autoimmune disease with skin and visceral involvement, having a yet unknown etiopathogenesis. Research has shown that professional exposure to various polluting chemicals such as dyes, aliphatic and aromatic organic solvents, inhalable silica dust or certain heavy metals, can be triggering factors for this disease when they overlap a predisposing genetic profile. Smoking is still a debated factor involved in the etiology of SSc, as authors have divergent opinions on this matter. The present study was designed to analyze the etiological factors identified in the group of 37 patients with diffuse and limited SSc from the southeast region of Romania and the results were compared to the literature data. In the group of patients included in this study, occupational exposure and smoking history were not present in all patients, and a hereditary factor was identified only in an isolated case. The majority of patients suffered from a major negative psychological event or from long-term stressful situations and these factors were associated with smoking history or occupational exposure; this suggests that SSc is initiated in a set of cumulative triggering factors.

Visceral leishmaniasis: a challenging diagnosis in internal medicine

Leishmaniasis is a vector-born parasitic disease characterized by predominant cutaneous or visceral involvement with fever, hepatosplenomegaly and anemia. Leishmaniasis has relatively high prevalence in tropical and subtropical areas. Several sporadic and mostly imported cases are detected in Russian Federation. Nevertheless, some local incidents are noted in southern areas (Crimea, Dagestan). Lack of epidemiological alertness hampers confirmation of diagnosis and may lead to incorrect treatment. The article summarizes current state of knowledge in epidemiology, diagnostic approach and treatment of leishmaniasis. Particular clinical case is discussed.

Italian guidelines for the diagnosis and treatment of classic and iatrogenic Kaposi's sarcoma

Kaposi's sarcoma (KS) is a lymphangioproliferative disorder associated with human herpesvirus 8 (HHV8) infection. Four clinical subtypes are recognized: classic, endemic, epidemic (HIV-related) and iatrogenic. KS diagnosis is based on clinical features, histopathological assessment, and HHV8 serology. Classic KS is usually skin-limited and has a chronic course, while the iatrogenic variant may show mucosal, nodal or visceral involvement. Clinical staging is fundamental to guide the management. Localized disease may be treated with different local therapies, even if there are no randomized trials comparing these different modalities. Aggressive, disseminated KS and cases with visceral involvement usually require systemic chemotherapy, most commonly vinblastine, bleomycin or paclitaxel. Iatrogenic KS needs immunosuppression tapering/withdrawal and, if possible, switch to m-TOR inhibitors in post-transplant KS. The present work by a panel of Italian experts provides guidelines on KS diagnosis and management based on a critical review of the literature and a long and extensive personal experience.

A comparative study of classic and HIV-viremic and aviremic AIDS Kaposi sarcoma.

Kaposi sarcoma in people living with HIV (PLHIV) is the most common AIDS-associated malignancy. There is increased interest in Kaposi sarcoma in PLHIV with controlled HIV viremia. To describe Kaposi sarcoma occurring in PLHIV despite virological control and to compare their clinical presentations with viremic AIDS-Kaposi sarcoma (AIDS-KS) and classic Kaposi sarcoma (CKS). This was a monocentric retrospective study, including all Kaposi sarcoma patients registered between the 1 January of 2000 and 31 December 2017 in a comprehensive data bank for all cancers in the Hérault region, South of France. AIDS-KS were also described using chart reviews from the Infectious diseases Department, which followed more than 90% of PLHIV from the same region. We defined aviremic AIDS-KS as Kaposi sarcoma occurring in persons taking HAART with a HIV viral load less than 50 copies for more than 12 months. We compared clinical characteristics of persons with aviremic AIDS-KS, viremic AIDS-KS and CKS, using the Kriegel score and number and topography of skin lesions, and presence of lymphedema. We retrieved 187 Kaposi sarcoma cases, of which 12 occurred in PLHIV with aviremic AIDS-KS. Kriegel score stage I was found in 10 (83%) of the aviremic AIDS-KS, 34 (68%) of CKS and 38 (58.4%) of viremic AIDS-KS cases, with similar clinical presentations between aviremic AIDS-KS and CKS groups, and viremic AIDS-KS persons having more aggressive presentations. One person with aviremic AIDS-KS had visceral involvement. We showed that Kaposi sarcoma in PLHIV with controlled viremia were generally indolent, similarly to CKS. Visceral involvement is, however, possible.

Pediatric drug reaction with eosinophilia and systemic symptoms: A systematic review of the literature, with a focus on relapsing cases.

Drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe cutaneous adverse drug reaction with systemic symptoms. This study aims to investigate clinical features, causative drugs, and available treatments for pediatric DRESS, particularly for relapsing cases. A systematic search of the English and French literature on pediatric DRESS was conducted using the Medline, Embase, and Cochrane collaboration databases. Confirmed cases of pediatric DRESS fulfilling the RegiSCAR diagnostic criteria with a probable or a definite diagnosis were included. After full-text article review, 144 articles were included, representing a total of 354 pediatric patients with a mean age of 8.8years. The mean time from the drug intake until the onset of the first symptom was 18.9days. Antiepileptic drugs were the main trigger, followed by anti-infectious agents. Relapsing DRESS was reported in 17 children. In comparison to non-relapsing cases, relapsing patients had more comorbidities. The initial clinical presentation was more commonly erythroderma. Facial edema, fever, and enlarged lymph nodes in more than two sites were more commonly found in relapsing cases. Systemic steroids were more frequently administered. Pediatric DRESS is a potentially severe adverse drug reaction. Antiepileptic agents are the most common causative agents. Fever, facial edema, lymph node enlargement, and pharyngeal and visceral involvement predicted DRESS reactivation in children. Corticosteroids were the mainstay of treatment.

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.

Mucopolysaccharidosis type I (MPS I) is a progressive lysosomal storage disease, with neurological and visceral involvement, in which early diagnosis through newborn screening (NBS) and early treatment can improve outcomes. We present our first 5 years of experience with laboratory and clinical management of NBS for MPS I. Since 2015, we have screened 160,011 newborns by measuring α-L-iduronidase (IDUA) activity and, since 2019, glycosaminoglycans (GAGs) in dried blood spot (DBS) as a second-tier test. Positive screening patients were referred to our clinic for confirmatory clinical and molecular testing. We found two patients affected by MPS I (incidence of 1:80,005). Before the introduction of second-tier testing, we found a high rate of false-positives due to pseudodeficiency. With GAG analysis in DBS as a second-tier test, no false-positive newborns were referred to our clinic. The confirmed patients were early treated with enzyme replacement therapy and bone-marrow transplantation. For both, the clinical outcome of the disease is in the normal range. Our experience confirms that NBS for MPS I is feasible and effective, along with the need to include GAG assay as a second-tier test. Follow-up of the two positive cases identified confirms the importance of early diagnosis through NBS and early treatment to improve the outcome of these patients.

Total Pelvic Exenteration in Leiomyosarcoma - A Case Report

AbstractLocally advanced high-grade leiomyosarcomas (LMS) with visceral involvement are difficult to manage. Here, we present a case of locally advanced high-grade sarcoma where total pelvic exenteration was undertaken to achieve complete cytoreduction. A 54-year-old lady with a prior history of hysterectomy and bilateral salpingoophorectomy done 8 years back for heavy menstrual bleeding presented to us with an abdomino-pelvic mass. Magnetic resonance imaging of the abdomen suggested large heterogeneous pelvic mass displacing urinary bladder anteriorly and abutting recto-sigmoid posteriorly with no luminal involvement. There was bilateral hydronephrosis. Computed tomography of the thorax revealed no evidence of metastatic disease. A review of previous biopsy and a repeat ultrasound-guided biopsy from the pelvic mass done at our institute suggested spindle-cell neoplasm. In view of pelvis confined disease in a young woman with well-preserved general condition, decision for surgical excision was taken. She underwent total pelvic exenteration with en bloc removal of mass, bladder, and involved portion of recto-sigmoid as the disease was infiltrating both the bladder and the recto-sigmoid. Her postoperative course was turbulent, but she recovered fully and was discharged 20 days after surgery. The operative specimen histopathology revealed high-grade LMS. She received four cycles of adjuvant chemotherapy and thereafter was kept on follow-up. Although she was clinically doing well, her general condition never improved beyond Eastern cooperative oncology Group 2. She also had persistent depressive symptoms. After 14 months of completion of treatment, she recurred with a huge abdominal disease. In view of her general condition and huge disease volume, decision was taken for supportive care only. LMS in advanced stages are difficult to manage. Even after aggressive management with radical exenterative surgery and chemotherapy, we could achieve only temporary control of locally advanced LMS.

Transthyretin -Related Familial Amyloid Polyneuropathy (TTR-FAP) Polineuropathy – Challenge Diagnosis and Case Presentation

Abstract Introduction Transthyretin -Related Familial Amyloid Polyneuropathy (TTR-FAP) is a rare cause of polyneuropathy, mainly in Romania, but also in other geographic area of Europe, Japan and north America. Polyneuropathies are common in neurology practice, but prevalence and incidence are not known, usually are underreported and misdiagnosis. Almost one third of polyneuropathies remain idiopathic, in spite of extensive work-out to identify etiology. Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a multisystemic disease neurological manifestation caused by the accumulation of amyloidogenic transthyretin (TTR) protein in tissues. It is an autosomal dominant syndrome, and there are more than 100 forms of TTr associated with FAP. The disease is characterized by progressive peripheral and autonomic neuropathy, and visceral amyloid involvement like cardiac amyloidosis. Case presentation We present the case of a male, aged 48, who experienced from 18 month paresthesias of distal inferior limb and fatigue, with an important weight loss. The patient was diagnosed with mixed polyneuropathy, and he was extensively investigated. Etiology was not established. He began to feel dizziness and faints several times, and these new features lead to our final diagnosis. Conclusions Etiology of a polyneuropathy case could be very challenging for general neurologist due to a numerous causes. A large variety of signs and symptoms lead the clinician to a narrow diagnostic possibilities and still this might take a long time. Polyneuropathy and cardiac involvement make a mark for life threatening disease but potentially curable

Esophageal Pityriasis Lichenoides Chronica

Abstract Casestudy: Pityriasis Lichenoides is an uncommon inflammatory skin condition of unknown cause that ranges from mild chronic form to a more severe acute eruption. The mild form, pityriasis lichenoid chronica (PLC), is characterized by the gradual development of symptomless, small scaling papules that spontaneously flatten and regress over weeks. The acute form is characterized by the sudden eruption of small scaling papules that develops into blisters and crusted red brown spots. This acute form is called pityriasis lichenoides et varioliformis acuta (PLEVA). Both forms usually involve the skin of the trunk and proximal extremities. Visceral involvement is not a well described phenomenon. We report a case of a 69-year-old female with significant history of PLC controlled by immunosuppressive therapy. The patient presented with odynophagia and dysphagia that occurred after a period of discontinuation of her PLC treatment. She underwent endoscopy which showed distal esophageal narrowing and stricture. Biopsy revealed squamous esophageal mucosa with marked intraepithelial lymphocytosis along with basal cell hyperplasia, acanthosis, vacuolation and prominent apoptosis in the epithelial cells. PAS, CMV and HSV stains showed no fungal or viral organisms. The esophagus is commonly involved in a number of dermatologic conditions including pemphigus vulgaris, erythema multiforme, epidermolysis bullosa, lichen planus and lichen sclerosis. The pattern of involvement is often in the form of “lymphocytic esophagitis”. To our knowledge, there are no reported cases in the literature on PLC involving the esophagus. While the diagnosis heavily relies on clinical history of PLC, awareness of potential involvement of the esophagus and attention to certain endoscopic and morphological details may better help classify esophagitis biopsies.

A Rapidly Enlarging Solitary Infantile Myofibroma

Infantile myofibromatosis is a rare disorder of mesenchymal cell proliferation that can affect the skin, bone, muscle, and viscera. We present a case of a 6-week-old male with a rapidly enlarging congenital solitary infantile myofibroma. The differential for congenital tumors of the head and neck is broad, and thorough evaluation is required to rule out life-threatening malignancy. Currently, there is no first-line imaging modality of choice to assess for skeletal and/or visceral involvement in patients with infantile myofibromatosis. We recommend the use of whole-body magnetic resonance imaging (MRI), as it quickly provides detailed information regarding extent of disease and does not expose the patient to the harmful effects of radiation.

Definitive Intent Locoregional IMRT In Oligometastatic Anal Squamous Cell Carcinoma

The role of locoregional intensity modulated radiation therapy (IMRT) in patients with metastatic anal squamous cell carcinoma (SCC) remains undefined. There is growing evidence of the potential benefit of local therapy even in the setting of oligometastatic disease to prevent the morbidity of uncontrolled pelvic disease. We queried an institutional database of 358 consecutive patients with SCC of the anal canal treated with definitive intent pelvic IMRT from 2005 to 2018 to identify patients with de novo metastatic disease. Locoregional control (LRC), progression-free survival (PFS), and overall survival (OS) were computed using the Kaplan-Meier method. Acute and late toxicities were assessed by the National Cancer Institute Common Terminology Criteria for Adverse Events version 5.0. Twenty-five patients with a median follow-up of 26 months including 19 (76%) women and 6 (24%) men with a median age of 60 years comprised the evaluable cohort. Eight (32%) patients had a solitary metastasis, 10 (40%) had two metastatic lesions, 2 (8%) had three metastatic lesions, 5 (20%) had four or more metastatic lesions. Non-regional lymph nodes were the most common site of metastatic disease (N = 16, 49%) followed by liver (N = 10, 30%), lung (N = 4, 12%), and others (N = 3, 9%). Sixteen patients had HPV related disease and 3 patients were HIV+. The median dose to the primary tumor was 56Gy (range, 50-58Gy) in a median of 28 fractions (range, 25-29) over a median of 39 elapsed days (range, 35-55). Twelve (48%) patients received induction chemotherapy and all patients received concurrent chemotherapy predominately mitomycin and capecitabine based. Twenty-one (84%) patients had metastatic-directed ablative therapy which included radiation (N = 20, 80%) and IR-ablation (N = 1, 4%). No patients underwent metastasectomy or received additional chemotherapy, targeted therapy, or immunotherapy prior to progression of disease. The 3-year LRC was 81%, PFS was 27%, and OS was 53%. In comparing patients with non-regional lymph node involvement to patients with visceral organ involvement there was no significant difference in LRC (86% vs. 79%, p = 0.950) but a trend for improved PFS (71% vs. 18%, p = 0.069) and OS (86% vs. 49%, p = 0.365). Grade 3+ acute toxicity included dermatitis (12%), proctitis (4%), and diarrhea (4%). Late grade 2+ toxicity rate was 12%. Definitive intent pelvic IMRT provides excellent locoregional control in patients with oligometastatic anal SCC. Local and extended regional nodal radiation is important to prevent the significant morbidity of uncontrollable pelvic disease given durable PFS and OS in patients with oligometastatic anal SCC.