RESUMEN
BACKGROUND: Aleukemic cutaneous myeloid sarcoma (CMS) represents an important yet rare entity denoting the presence of a cutaneous myeloid leukemic infiltrate without concurrent peripheral blood or bone marrow disease. The clinicopathologic diagnosis remains elusive due to isolated skin findings and variable immunostaining. Cytogenetic and molecular findings have infrequently been reported. METHODS: Twenty-five patients with CMS were identified in the Massachusetts General Hospital pathology database between 2004 and 2012. Patients were excluded if concurrent blood or marrow acute myeloid leukemia (AML), myelodysplastic syndrome or lymphoproliferative disorder were diagnosed. RESULTS: Three patients were identified: a neonate with recurrent CMS and marrow disease that never met diagnostic criteria for AML and two patients relapsing as CMS without concurrent blood or marrow disease following chemotherapy-induced complete remission. Histology showed atypical mononuclear cell interstitial dermal infiltrates. All cases were CD68+, lysozyme+ and CD117-; one of two were CD34+; two of three were myeloperoxidase negative. 11q23 rearrangement, t(1;14), NPM1 (nucleophosmin I), FLT3-ITD (Fms-like tyrosine kinase 3-internal tandem duplication), and novel FLT3-D835 mutations were identified. CONCLUSION: An isolated atypical cutaneous infiltrate may represent aleukemic CMS and should prompt a search for other extramedullary sites of involvement. Immunohistochemistry, molecular and cytogenetic studies can help differentiate aleukemic CMS from benign and malignant, monocytic and histiocytic mimickers, and may potentially indicate therapy and prognosis.
Asunto(s)
Sarcoma Mieloide , Neoplasias Cutáneas , Anciano , Antígenos CD/genética , Antígenos CD/metabolismo , Aberraciones Cromosómicas , Cromosomas Humanos Par 11/genética , Cromosomas Humanos Par 11/metabolismo , Bases de Datos Factuales , Dermis/metabolismo , Dermis/patología , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Nucleofosmina , Estudios Retrospectivos , Sarcoma Mieloide/tratamiento farmacológico , Sarcoma Mieloide/genética , Sarcoma Mieloide/metabolismo , Sarcoma Mieloide/patología , Neoplasias Cutáneas/tratamiento farmacológico , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/metabolismo , Neoplasias Cutáneas/patología , Tirosina Quinasa 3 Similar a fms/genética , Tirosina Quinasa 3 Similar a fms/metabolismoRESUMEN
Anaplastic large cell lymphoma (ALCL) is a T-cell lymphoma histologically characterized by expression of CD30, a cell surface receptor present on activated T cells and B cells. ALCL may occur in a primary cutaneous form or as systemic ALCL with lymph node involvement. Anaplastic lymphoma kinase (ALK) is a tyrosine kinase that induces neoplastic transformation as a result of translocational fusion with an activating promoter. The presence of ALK can be used to distinguish between primary cutaneous ALCL and systemic nodal ALCL in certain cases. Primary cutaneous and systemic ALCL metastatic to the skin are histologically indistinguishable. "Leukemic vasculitis"--an uncommon finding in cases of cutaneous leukemia and even more exceptional in cutaneous lymphoma--refers to a pattern of vasculitis occurring as a direct result of infiltrating neoplastic cells. We report a fatal case of recurrent ALK-negative ALCL presenting as ulcerating skin lesions in a patient previously treated with the new anti-CD30 agent brentuximab vedotin. Biopsy revealed a necrotizing vasculitis resulting from the infiltration of neoplastic cells reminiscent of the patient's primary malignancy. We review the clinical and pathological findings of ALCL and present this case to highlight a subtle diagnostic clue in assessing recurrence of cutaneous lymphoma.
Asunto(s)
Biomarcadores de Tumor/análisis , Linfoma Anaplásico de Células Grandes/complicaciones , Recurrencia Local de Neoplasia , Proteínas Tirosina Quinasas Receptoras/análisis , Enfermedades Cutáneas Vasculares/etiología , Neoplasias Cutáneas/complicaciones , Vasculitis/etiología , Quinasa de Linfoma Anaplásico , Antineoplásicos/uso terapéutico , Biopsia , Brentuximab Vedotina , Resultado Fatal , Humanos , Inmunoconjugados/uso terapéutico , Linfoma Anaplásico de Células Grandes/enzimología , Linfoma Anaplásico de Células Grandes/patología , Linfoma Anaplásico de Células Grandes/terapia , Masculino , Persona de Mediana Edad , Necrosis , Enfermedades Cutáneas Vasculares/tratamiento farmacológico , Enfermedades Cutáneas Vasculares/patología , Neoplasias Cutáneas/enzimología , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/terapia , Úlcera Cutánea/etiología , Trasplante de Células Madre , Esteroides/uso terapéutico , Resultado del Tratamiento , Vasculitis/tratamiento farmacológico , Vasculitis/patologíaRESUMEN
Vascular anomalies may be appropriately classified into two broad categories, vascular tumors and vascular malformations, which are distinguished by the presence of cellular proliferation in contrast to aberrations in morphogenesis, respectively. This system of classification is based upon histological features that may in large part be differentiating, but nevertheless, may show morphological overlap. Advances in immunophenotyping allow for more precise diagnoses as well as further delineation of cell origins. In the discussion, we present the clinical, histological, and, when applicable, the immunophenotypic presentation of vascular anomalies commonly seen in infancy and early childhood.
Asunto(s)
Hemangioma/congénito , Hemangioma/patología , Anomalías Linfáticas/patología , Malformaciones Vasculares/patología , Malformaciones Arteriovenosas/patología , Hemangioendotelioma/patología , Hemangioma/clasificación , Humanos , Síndrome de Kasabach-Merritt/patología , Anomalías Linfáticas/clasificación , Sarcoma de Kaposi/patología , Neoplasias Cutáneas/patología , Terminología como Asunto , Malformaciones Vasculares/clasificaciónRESUMEN
Nontuberculous mycobacteria (NTM) are becoming increasingly important cutaneous pathogens as the number of susceptible patients increases. Nevertheless, primary cutaneous infection by one particular species, Mycobacterium avium complex (MAC), remains relatively unusual, particularly in immunocompetent patients. We review the English-language literature on primary cutaneous MAC in patients who were neither immunocompromised nor pharmacologically immunosuppressed. We offer an additional report of a healthy patient who presented to our clinic with primary cutaneous MAC following seemingly innocuous trauma to the leg.
Asunto(s)
Antibacterianos/uso terapéutico , Pierna , Infecciones por Mycobacterium no Tuberculosas/diagnóstico , Infecciones por Mycobacterium no Tuberculosas/tratamiento farmacológico , Mycobacterium marinum/aislamiento & purificación , Enfermedades Cutáneas Bacterianas/diagnóstico , Enfermedades Cutáneas Bacterianas/tratamiento farmacológico , Femenino , Humanos , Persona de Mediana Edad , Infecciones por Mycobacterium no Tuberculosas/microbiología , Resultado del TratamientoRESUMEN
Implantable cardioverter-defibrillators have aided the prevention of sudden cardiac death in adults. The hope is to provide similar benefits to the pediatric population as the devices become smaller. Herein, we present the case of a 4.9-kg, 5-week-old infant boy who presented with cardiopulmonary arrest. After emergency defibrillation, conventional treatment options included long-term hospitalization for later cardioverter-defibrillator implantation, or installation of an external defibrillator with subsequent home telemetry. On the basis of the infant's body dimensions, we decided that an epicardial implantable cardioverter-defibrillator was feasible and the best option. We performed a median sternotomy and placed a Vitality® implantable cardioverter-defibrillator with a 25-cm defibrillator coil and a 35-cm bipolar ventricular lead. The patient experienced no postoperative morbidity or rhythm disturbances and was discharged from the hospital on postoperative day 5. He was placed on ß-blocker therapy and has remained well for 3 years.Although external devices can be placed in a small patient, we believe that they are too susceptible to lead damage and lead migration, and that the defibrillator thresholds are less reliable. We think that dysrhythmias even in very small children can be treated effectively and safely with use of an epicardial implantable cardioverter-defibrillator. To our knowledge, this 4.9-kg infant is the smallest patient to have undergone a successful implantation of this kind.
Asunto(s)
Arritmias Cardíacas/terapia , Peso Corporal , Muerte Súbita Cardíaca/prevención & control , Desfibriladores Implantables , Cardioversión Eléctrica/instrumentación , Paro Cardíaco/terapia , Antagonistas Adrenérgicos beta/uso terapéutico , Arritmias Cardíacas/complicaciones , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/fisiopatología , Muerte Súbita Cardíaca/etiología , Diseño de Equipo , Paro Cardíaco/diagnóstico , Paro Cardíaco/etiología , Paro Cardíaco/fisiopatología , Humanos , Lactante , Masculino , Pericardio , Esternotomía , Resultado del TratamientoAsunto(s)
Mucinosis/diagnóstico , Enfermedades de la Piel/diagnóstico , Betametasona/uso terapéutico , Femenino , Flurandrenolona/uso terapéutico , Humanos , Lactante , Mucinosis/tratamiento farmacológico , Mucinosis/patología , Enfermedades de la Piel/tratamiento farmacológico , Enfermedades de la Piel/patología , Resultado del Tratamiento , Tretinoina/uso terapéuticoRESUMEN
The diagnosis of allergic contact dermatitis due to colophony may be challenging as this allergen is found in a number of products and used in a variety of settings. Diagnosis becomes more difficult when the distribution of dermatitis does not coincide with typical patterns of use of the allergen. We present a case of transfer contact dermatitis of the face due to rosin use in bowling.