RESUMO
Kaposi sarcoma is a malignant vascular tumor consisting of multiple clinical subtypes and varying histopathologic patterns. We report a case of a 53-year-old African-American male with HIV/AIDS who presented multiple times with skin nodules, pain, and edema in his lower extremities, secondary to recurrent Kaposi sarcoma. The patient was treated with two courses of liposomal doxorubicin with improvement, but his symptoms recurred a third time. A biopsy specimen of one of the nodules showed prominent neoplastic cells of epithelioid morphology, some with clear-cell change, appearing to form rudimentary vessels in the superficial dermis. Further inspection of the deeper dermis revealed more classic findings of Kaposi sarcoma, including admixed spindle cells, poorly defined vessels, scattered apoptotic bodies, entrapped collagen bundles, and extravasated erythrocytes. Both the epithelioid and classic portions of the neoplasm stained positive for CD31 and human herpesvirus 8, supporting a diagnosis of Kaposi sarcoma. Prior to this case, the epithelioid variant of Kaposi sarcoma has been reported only twice in the literature. Recognizing this rare histopathologic variant of Kaposi sarcoma among its other histopathologic patterns may assist in accurate and expedient diagnosis of this well-recognized disease.
Assuntos
Sarcoma de Kaposi/patologia , Neoplasias Cutâneas/patologia , Infecções por HIV , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
OBJECTIVES: Massive fetomaternal hemorrhage (FMH) is rare and reported to be the cause in approximately 3% of all fetal deaths. Maternal management of massive FMH includes prevention of Rh(D) alloimmunization in Rh(D)-negative mothers by administration of Rh(D) immune globulin (RhIG). METHODS: We describe a case of a 30-year-old O-negative, primigravida woman who presented at 38 weeks of gestation with decreased fetal movements. She underwent an emergency cesarean section and delivered an O-positive baby girl who died shortly after birth. RESULTS: The patient's FMH screen was positive, with a Kleihauer-Betke test demonstrating 10.7% fetal blood in maternal circulation. The calculated dose of 6,300 µg RhIG was given prior to discharge over 2 days using an intravenous (IV) preparation. Antibody screening a week after discharge showed anti-D and anti-C. The anti-C was attributed to acquired passive immunity from the large dose of RhIG. Anti-C reactivity waned and was negative at 6 months, but the anti-D pattern persisted at 9 months postdelivery. Negative antibody screens were noted at 12 and 14 months. CONCLUSIONS: This case highlights the immunohematology challenges of IV RhIG as well as the success in preventing alloimmunization with IV RhIG given the patient's complete resolution of anti-C and no anti-D formation, with a subsequent healthy pregnancy.
Assuntos
Transfusão Feto-Materna , Gravidez , Feminino , Humanos , Adulto , Transfusão Feto-Materna/diagnóstico , Transfusão Feto-Materna/tratamento farmacológico , Imunoglobulina rho(D)/uso terapêutico , Cesárea , Seguimentos , Hemorragia/tratamento farmacológicoRESUMO
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in SERPINA1, which encodes alpha-1 antitrypsin, a protease inhibitor (Pi). Individuals with AATD and the homozygous Pi*ZZ genotype have variable risk of progressive liver disease but the influence of comorbid lung disease is poorly understood. AIMS: To characterise patients with AATD Pi*ZZ and liver disease (AATD-LD-Pi*ZZ) with or without lung disease and describe liver disease-related clinical events longitudinally. METHODS: This was an observational cohort study of patients in the Mayo Clinic Healthcare System (January 2000-September 2021). Patients were identified using diagnosis codes and natural language processing. Fibrosis stage (F0-F4) was assessed using a hierarchical approach at baseline (90 days before or after the index date) and follow-up. Clinical events associated with liver disease progression were assessed. RESULTS: AATD-LD-Pi*ZZ patients with lung disease had a longer median time from AATD diagnosis to liver disease diagnosis versus those without lung disease (2.2 vs. 0.2 years, respectively). Compared to those without lung disease, patients with lung disease had a longer time to liver disease-related clinical events (8.5 years and not reached, respectively). AATD-LD-Pi*ZZ patients without lung disease were more likely to undergo liver transplantation compared with those with lung disease. CONCLUSION: In patients with AATD and lung disease, there is a delay in the diagnosis of comorbid liver disease. Our findings suggest that liver disease may progress more rapidly in patients without comorbid lung disease.
Assuntos
Pneumopatias , Deficiência de alfa 1-Antitripsina , Humanos , Deficiência de alfa 1-Antitripsina/complicações , Deficiência de alfa 1-Antitripsina/diagnóstico , Deficiência de alfa 1-Antitripsina/genética , Pneumopatias/complicações , Genótipo , Progressão da Doença , Inibidores de ProteasesRESUMO
Case reports of patients infected with COVID-19 and influenza virus ("flurona") have raised questions around the prevalence and severity of coinfection. Using data from HHS Protect Public Data Hub, NCBI Virus, and CDC FluView, we analyzed trends in SARS-CoV-2 and influenza hospitalized coinfection cases and strain prevalences. We also characterized coinfection cases across the Mayo Clinic Enterprise from January 2020 to April 2022. We compared expected and observed coinfection case counts across different waves of the pandemic and assessed symptoms and outcomes of coinfection and COVID-19 monoinfection cases after propensity score matching on clinically relevant baseline characteristics. From both the Mayo Clinic and nationwide datasets, the observed coinfection rate for SARS-CoV-2 and influenza has been higher during the Omicron era (2021 December 14 to 2022 April 2) compared to previous waves, but no higher than expected assuming infection rates are independent. At the Mayo Clinic, only 120 coinfection cases were observed among 197,364 SARS-CoV-2 cases. Coinfected patients were relatively young (mean age: 26.7 years) and had fewer serious comorbidities compared to monoinfected patients. While there were no significant differences in 30-day hospitalization, ICU admission, or mortality rates between coinfected and matched COVID-19 monoinfection cases, coinfection cases reported higher rates of symptoms including congestion, cough, fever/chills, headache, myalgia/arthralgia, pharyngitis, and rhinitis. While most coinfection cases observed at the Mayo Clinic occurred among relatively healthy individuals, further observation is needed to assess outcomes among subpopulations with risk factors for severe COVID-19 such as older age, obesity, and immunocompromised status.
RESUMO
BACKGROUND: Metastases to the central nervous system are often multiple in number and typically favor the gray-white matter junction. Collision tumors, defined as the coexistence of two morphologically different tumors, such as metastases to a known pituitary adenoma (PA), are exceedingly rare. Only a few reported cases of metastases to a PA exist in the literature. OBSERVATIONS: The authors present the case of a 64-year-old man with a known history of stage IV metastatic melanoma who was found to have hypermetabolic activity in the sellar region on surveillance positron emission tomography. On laboratory evaluation, he had clear evidence of pituitary axis dysfunction without diabetes insipidus. Subsequent magnetic resonance imaging showed a 2.4-cm sellar mass with features of a pituitary macroadenoma and internal hemorrhage, although no clinical symptoms of apoplexy were noted. He underwent a transsphenoidal endoscopic endonasal approach for resection of the sellar lesion. Final pathology showed a collision tumor with melanoma cells intermixed with PA cells. LESSONS: Histological analysis verified the rare presence of a collision tumor of a melanoma metastasis to a nonfunctional pituitary macroadenoma. Metastasis to a preexisting PA, although rare, should be considered in the differential diagnosis in patients with sellar lesions and a known cancer history.
RESUMO
Colorectal cancers (CRCs) initiate through distinct mutations, including in APC pathway components leading to tubular adenomas (TAs); in BRAF, with epigenetic silencing of CDX2, leading to serrated adenomas (SAs); and in the DNA mismatch repair machinery driving microsatellite instability (MSI). Transformation through the APC pathway involves loss of the hormone GUCA2A that silences the tumor-suppressing receptor GUCY2C. Indeed, oral hormone replacement is an emerging strategy to reactivate GUCY2C and prevent CRC initiation and progression. Moreover, retained expression by tumors arising from TAs has established GUCY2C as a diagnostic and therapeutic target to prevent and treat metastatic CRC. Here, we defined the potential role of the GUCA2A-GUCY2C axis and its suitability as a target in tumors arising through the SA and MSI pathways. GUCA2A hormone expression was eliminated in TAs, SAs, and MSI tumors compared to their corresponding normal adjacent tissues. In contrast to the hormone, the tumor-suppressing receptor GUCY2C was retained in TA and MSI tumors. Surprisingly, GUCY2C expression was nearly eliminated in SAs, reflecting loss of the transcription factor CDX2. Changes in the GUCA2A-GUCY2C axis in human SAs and MSI tumors were precisely recapitulated in genetic mouse models. These data reveal the possibility of GUCA2A loss silencing GUCY2C in the pathophysiology of, and oral hormone replacement to restore GUCY2C signaling to prevent, MSI tumors. Also, they highlight the potential for targeting GUCY2C to prevent and treat metastases arising from TA and MSI tumors. In contrast, loss of GUCY2C excludes patients with SAs as candidates for GUCY2C-based prevention and therapy.
Assuntos
Adenoma/genética , Neoplasias Colorretais/genética , Receptores de Enterotoxina/genética , Adenoma/patologia , Adulto , Idoso , Animais , Neoplasias Colorretais/patologia , Feminino , Humanos , Masculino , Camundongos , Camundongos Transgênicos , Pessoa de Meia-Idade , Transdução de SinaisRESUMO
Heparin is one of the most widely prescribed medications. Cutaneous reactions distant to the injection site are rare and under-reported in the literature. We present an elderly man with history of CNS lymphoma who underwent treatment of a deep venous thrombosis with enoxaparin and subsequently developed well demarcated bullous lesions within days of heparin initiation. The exact pathophysiology is not well understood. Hemorrhagic bullous dermatosis is a rare cutaneous reaction that is temporally associated with the initiation of heparin products. The handful of cases thus far suggest that regression of these seemingly benign lesions may or may not be associated with dose reduction or discontinuation of heparin products and typically occur within a few weeks. Elderly age appears to be one potential risk factor for development of these rare asymptomatic lesions. Malignancy may have some contributing factor and differentiation between this rare cutaneous manifestation from heparin products and other dermatological findings in patients with malignancy is key. Because of the asymptomatic and self-limiting nature of hemorrhagic bullous dermatoses in the setting of heparin product use, we presume that the reported incidence does not reflect true clinical practice.
Assuntos
Anticoagulantes/administração & dosagem , Toxidermias/etiologia , Hemorragia/induzido quimicamente , Heparina/efeitos adversos , Dermatopatias Vesiculobolhosas/induzido quimicamente , Idoso , Anticoagulantes/efeitos adversos , Toxidermias/patologia , Hemorragia/patologia , Heparina/administração & dosagem , Humanos , Masculino , Dermatopatias Vesiculobolhosas/patologiaRESUMO
Spinal paragangliomas (SP) are benign and overall rare extra-adrenal neuroendocrine tumors often diagnosed during workup for lower back pain. Complete surgical resection achieves both symptomatic relief and cure. We present a 32-year-old man with a longstanding history of lumbago and bilateral lower extremity pain found to have a lumbar paraganglioma at the level of the L3 vertebrae. The clinical, histopathological, and radiological characteristics are described, including the rare finding of superficial siderosis on MRI of the brain. A laminectomy with microscopic dissection of the intradural mass achieved complete debulking without evidence of residual tumor. Excellent prognosis can be achieved with complete surgical resection of SP without the need for adjuvant therapy. Therefore, care should be taken to distinguish these spinal tumors from those that appear similar but are more aggressive. As such, the radiological finding of superficial siderosis should raise the suspicion for SP when a vascular intradural extramedullary spinal tumor is observed.