ABSTRACT
Primary cutaneous gamma delta T-cell lymphoma is a rare diagnosis with only 40 reported cases. We describe a case of cutaneous gamma delta T-cell lymphoma with hemophagocytic syndrome and brain involvement that was not apparent morphologically on skin biopsy and was diagnosed as perifolliculitis and lobular panniculitis. The biopsy was sent later for molecular studies to the University of Washington, which demonstrated a T-cell clone. This case demonstrates that a T-cell clone may be present in a skin biopsy without morphologic or immunophenotypic evidence of lymphoma.
Subject(s)
Brain Neoplasms/secondary , Lymphohistiocytosis, Hemophagocytic/etiology , Lymphoma, T-Cell, Cutaneous/pathology , Humans , Lymphoma, T-Cell, Cutaneous/immunology , Male , Middle Aged , Receptors, Antigen, T-Cell, gamma-delta/metabolismABSTRACT
Extrarenal rhabdoid tumor is a rare malignancy of infants and children, typically presenting in the soft tissue of deep, axial locations. We describe a rare dermal presentation of congenital extrarenal rhabdoid tumor in the left paraspinal region of a 6-month-old girl with germline deletion of chromosome 22q11.21q11.23. This case demonstrates that like other rhabdoid tumors, the SMARCB1 gene is also responsible for cutaneous extrarenal rhabdoid tumor oncogenesis.
Subject(s)
Chromosomal Proteins, Non-Histone/physiology , DNA-Binding Proteins/physiology , DiGeorge Syndrome/physiopathology , Rhabdoid Tumor/congenital , Rhabdoid Tumor/physiopathology , Skin Neoplasms/congenital , Skin Neoplasms/physiopathology , Transcription Factors/physiology , Biopsy , Chromosomal Proteins, Non-Histone/genetics , Chromosomes, Human, Pair 22/genetics , Combined Modality Therapy , Comorbidity , DNA-Binding Proteins/genetics , DiGeorge Syndrome/epidemiology , Drug Therapy , Female , Germ-Line Mutation/genetics , Humans , Infant , Radiotherapy , Rhabdoid Tumor/epidemiology , SMARCB1 Protein , Skin/pathology , Skin Neoplasms/epidemiology , Transcription Factors/genetics , Treatment OutcomeABSTRACT
Glomus tumors are rare soft tissue neoplasms resembling the normal glomus body, which is a specialized form of arteriovenous anastomosis that regulates heat. The molecular genetics of sporadic glomus tumors has not been studied. We genotyped tumors from 28 patients (16 female patients and 12 male patients) ranging from 13 to 77 years and correlated the results with the tumor site (15 finger/1 hand/4 arm/7 leg/1 eyelid), Ki-67 index, and clinical follow-up. Tumor DNA from paraffin-embedded tissue was screened by multiplex polymerase chain reaction and mass spectroscopy, using a panel covering 370 mutations across 30 genes, including AKT1, BRAF, CTNNB1, EGFR, ERBB2, FGFR1/2/3, HRAS, KIT, KRAS, MEK1/2, NRAS, PDGFRA, and PIK3CA. A BRAF V600E mutation was identified in 3 cases, all of which occurred in proximal locations (upper shin, thigh, and upper arm). Two of the patients with BRAF-mutated tumors were quite young (21 and 13 years) and one of the BRAF-mutated tumors recurred in 3 years. A KRAS G12A mutation was found in tumor removed from the finger. Ki-67 index did not correlate with genotype. To our knowledge, this is the first report of oncogenic mutations in sporadic glomus tumors.
Subject(s)
Glomus Tumor/genetics , Mutation , Proto-Oncogene Proteins B-raf/genetics , Proto-Oncogene Proteins/genetics , ras Proteins/genetics , Adolescent , Adult , Aged , Biopsy , DNA Mutational Analysis , Female , Genetic Predisposition to Disease , Glomus Tumor/chemistry , Glomus Tumor/pathology , Humans , Immunohistochemistry , Ki-67 Antigen/analysis , Male , Mass Spectrometry , Middle Aged , Oregon , Phenotype , Proto-Oncogene Proteins p21(ras) , Young AdultABSTRACT
The differential diagnosis of diarrhea in immunocompromised patients encompasses many intestinal parasites including the coccidian Cystoisospora belli. Gastrointestinal infection with C. belli leads to cystoisosporiasis with diarrhea and, depending on host immune status, can cause extraintestinal disease. C. belli is usually diagnosed by examination of stool or intestinal biopsy specimens; however, the organism may be undetected using these test methods. Thus, more sensitive molecular tools for detection of pathogenic parasites are desirable. Herein is described a patient with AIDS who had persistent diarrhea of unknown cause. Microscopic examinations of stool and ileal biopsy specimens were initially unremarkable for any specific pathogen. Screening of DNA extracted from biopsy material using extended-range PCR primers recognizing conserved DNA sequences found in many fungi and parasites revealed infection with C. belli, which was confirmed at repeat histologic analysis. Extended-range PCR screening was used because the differential diagnosis was broad and other tools were not applied, yet this molecular approach led to the appropriate diagnosis and treatment of the condition. Thus, this approach offers a promising test for diagnosis of parasitic diseases that elude diagnosis using conventional methods.
Subject(s)
Isosporiasis/diagnosis , Polymerase Chain Reaction , Adult , DNA, Ribosomal Spacer/genetics , HIV Infections/complications , Humans , Immunocompromised Host/immunology , Isospora/genetics , Isosporiasis/complications , Isosporiasis/pathology , Male , RNA, Ribosomal/geneticsABSTRACT
A 50-year-old woman underwent facial massage. After 13 days, she experienced left retro-orbital pain, ptosis, and miosis. Magnetic resonance imaging (MRI) showed stenotic dissection of bilateral cervical internal carotid and vertebral arteries. The intracranial vasculature was intact. She was treated conservatively with long-term oral anticoagulation and remains asymptomatic 18 months later.
