Neurofibromatosis-1 and Rhabdomyosarcoma: An Unusual Recurrence

Neurofibromatosis-1 (NF-1) has a known increased risk of malignancy with rhabdomyosarcoma occurring in up to 6% of patients. Here we report on an 8-year-old male with a history of NF-1and previously treated stage 3, group III bladder/prostate embryonal rhabdomyosarcoma (diagnosed at 18 months old) who presented with penile swelling concerning for priapism. Imaging and subsequent biopsy confirmed embryonal rhabdomyosarcoma of the penile corporal bodies. Penile rhabdomyosarcoma is exceedingly rare, with less than 15 case reports in the literature.
Source: Urology - Category: Urology & Nephrology Authors: Source Type: research

Related Links:

Spindle cell rhabdomyosarcoma (RMS) is an aggressive sarcoma type with a predilection for the head and neck and frequent transactivating MYOD1 mutations. Malignant peripheral nerve sheath tumors (MPNST) show heterologous (most often rhabdomyoblastic) differentiation in 10% of cases; such tumors have been referred to as malignant “Triton” tumors. MPNST frequently harbors inactivating mutations in SUZ12 or EED, resulting in PRC2 dysfunction and loss of histone H3 lysine 27 trimethylation (H3K27me3), most often seen in sporadic and radiation-associated, high-grade tumors; immunohistochemistry (IHC) for H3K27me3 is...
Source: The American Journal of Surgical Pathology - Category: Pathology Tags: Original Articles Source Type: research
Different types of malignancies can be seen in patients with neurofibromatosis type 1 (NF-1). Herein we present a rare combination of NF-1 and biliary rhabdomyosarcoma in a male infant. An 11-month-old boy, who was recently diagnosed with NF-1, presented to the outpatient clinic with a 3-month history of prolonged jaundice, and failure to thrive. Clinical examination showed>20 café au let spots distributed mainly over the abdominal trunk. Hepatomegaly (4 cm below the costal margin) was additionally observed. His father was diagnosed with NF-1. Radiologic imaging studies showed a 6×5×5 cm...
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research
RASopathies are a group of rare congenital diseases in which dysregulated signaling through the RAS-MAPK signaling cases is the critical pathogenetic mechanism. This definition excludes postnatally acquired conditions (e.g. RAS-MAPK driven neoplasms) and PIK3-AKT pathway related disorders as well as conditions with only ancillary RAS pathway involvement (e.g. KAT6B-, RAP1A/B-related disorders). The definition, however, includes the following categories: (1) Noonan syndrome and related disorders, specifically Noonan syndrome (NS), NS with multiple lentigines, NS-like disorder with loose anagen hair, CBL syndrome, cardiofaci...
Source: Blood - Category: Hematology Authors: Tags: A MAP(K) to Pediatric RASopathies Source Type: research
We report on the case of a 5-year-old boy with NF1 developing two tumors. PMID: 28870819 [PubMed - as supplied by publisher]
Source: Archives de Pediatrie - Category: Pediatrics Authors: Tags: Arch Pediatr Source Type: research
Abstract Although the neurofibromatoses consist of at least three autosomal dominantly inherited disorders, neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, NF1 represents a multisystem pleiotropic condition very different from the other two. NF1 is a genetic syndrome first manifesting in childhood; affecting multiple organs, childhood development, and neurocognitive status; and presenting the clinician with often complex management decisions that require a multidisciplinary approach. Molecular genetic testing (see article for detailed discussion) is recommended to confirm NF1, particular...
Source: Clinical Cancer Research - Category: Cancer & Oncology Authors: Tags: Clin Cancer Res Source Type: research
Purpose The current study was designed to determine the risk of cancer in patients with neurofibromatosis type 1 (NF1) by cancer type, age, and sex with unprecedented accuracy to be achieved by combining two total population–based registers. Patients and Methods A population-based series of patients with NF1 (N = 1,404; 19,076 person-years) was linked to incident cancers recorded in the Finnish Cancer Registry and deaths recorded in the national Population Register Centre between 1987 and 2012. Standardized incidence ratios (SIRs) and standardized mortality ratios (SMRs) were calculated for selected cancer types. Su...
Source: Journal of Clinical Oncology - Category: Cancer & Oncology Authors: Tags: Epidemiology, Cancer Etiology, Brain Tumors, Rare tumor types, Rhabdomyosarcoma & Soft Tissue Sarcoma, Epidemiology, Hereditary Cancers & Genetic Predisposition, CNS Tumors, Outcomes Research, Rapid Communications, Epidemiology, Rhabdo & Other Soft Tissue Source Type: research
Abstract This review focuses on the MRI features of neurogenic tumors and rhabdomyosarcoma in children. Neurogenic tumors include those arising from a nerve sheath and neuroblastic tumors that arise from the sympathetic nervous system. Nerve sheath tumors can be benign or malignant and occur sporadically or in association with neurofibromatosis type 1. Neuroblastic tumors comprise a spectrum of tumors ranging from highly malignant neuroblastoma to the benign ganglioneuroma. These neurogenic tumors arise in typical locations within the chest, abdomen and pelvis and have distinctive and characteristic imaging featu...
Source: Pediatric Radiology - Category: Radiology Source Type: research
Abstract Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by the development of multiple neurofibromas, cafe‐au‐lait spots, and Lisch nodules. Individuals with NF1 are at increased risk of developing various tumors, such as malignant peripheral nerve sheath tumor (MPNST), pheochromocytoma, leukemia, glioma, rhabdomyosarcoma, and breast cancer. Here, we describe the exome sequencing of breast cancer, MPNST, and neurofibroma from a patient with NF1. We identified a germline mutation in the NF1 gene which resulted in conversion of leucine to proline at amino acid position 847. In addition, we showed inde...
Source: Cancer Medicine - Category: Cancer & Oncology Authors: Tags: Short Report Source Type: research
We describe a case occurring in the mediastinum (between the ascending aorta and the main pulmonary artery) of a 40-year-old man with neurofibromatosis type-1. Despite treatment, the tumor metastasized to the right frontal lobe 16 months after diagnosis. Histologically, the primary neoplasm comprised cellular fascicles of atypical spindle cells, with discrete foci of well-formed or more primitive glandular epithelial structures, while the metastases comprised spindle cell sarcoma, including rhabdomyosarcoma, without epithelial elements. We review and discuss the literature on these little characterized neoplasms, including...
Source: International Journal of Surgical Pathology - Category: Pathology Authors: Tags: Case Reports Source Type: research
CONCLUSION: Although benign brain tumors with NF1 are more common high-grade brain tumors also occur. Thus, careful and regular follow-up is crucial for early detection of malignancy in NF1 patients. PMID: 26073032 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
More News: Brain | Cancer & Oncology | Neurofibromatosis | Neurology | Penile Biopsy | Rhabdomyosarcoma | Urology & Nephrology