RESUMEN
OBJECTIVE: Sertoli-Leydig cell tumors (SLCTs) are rare sex cord-stromal tumors, representing <0.5% of all ovarian tumors. We sought to describe prognostic factors, treatment and outcomes for individuals with ovarian SLCT. METHODS: Individuals with SLCT were enrolled in the International Pleuropulmonary Blastoma/DICER1 Registry and/or the International Ovarian and Testicular Stromal Tumor Registry. Medical records were systematically abstracted, and pathology was centrally reviewed when available. RESULTS: In total, 191 participants with ovarian SLCT enrolled, with most (92%, 175/191) presenting with FIGO stage I disease. Germline DICER1 results were available for 156 patients; of these 58% had a pathogenic or likely pathogenic germline variant. Somatic (tumor) DICER1 testing showed RNase IIIb hotspot variants in 97% (88/91) of intermediately and poorly differentiated tumors. Adjuvant chemotherapy was administered in 40% (77/191) of cases, and among these, nearly all patients received platinum-based regimens (95%, 73/77), and 30% (23/77) received regimens that included an alkylating agent. Three-year recurrence-free survival for patients with stage IA tumors was 93.6% (95% CI: 88.2-99.3%) compared to 67.1% (95% CI: 55.2-81.6%) for all stage IC and 60.6% (95% CI: 40.3-91.0%) for stage II-IV (p < .001) tumors. Among patients with FIGO stage I tumors, those with mesenchymal heterologous elements treated with surgery alone were at higher risk for recurrence (HR: 74.18, 95% CI: 17.99-305.85). CONCLUSION: Most individuals with SLCT fare well, though specific risk factors such as mesenchymal heterologous elements are associated with poor prognosis. We also highlight the role of DICER1 surveillance in early detection of SLCT, facilitating stage IA resection.
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ARN Helicasas DEAD-box , Neoplasias Ováricas , Blastoma Pulmonar , Sistema de Registros , Ribonucleasa III , Tumor de Células de Sertoli-Leydig , Humanos , Tumor de Células de Sertoli-Leydig/patología , Tumor de Células de Sertoli-Leydig/cirugía , Femenino , Neoplasias Ováricas/patología , Neoplasias Ováricas/cirugía , ARN Helicasas DEAD-box/genética , Blastoma Pulmonar/patología , Adulto , Ribonucleasa III/genética , Persona de Mediana Edad , Adulto Joven , Anciano , Masculino , Adolescente , Quimioterapia Adyuvante , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/cirugía , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnóstico , Neoplasias Testiculares/patología , Neoplasias Testiculares/cirugía , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/cirugíaAsunto(s)
Anticuerpos Biespecíficos , Protocolos de Quimioterapia Combinada Antineoplásica , N-Metiltransferasa de Histona-Lisina , Inmunoterapia Adoptiva , Proteína de la Leucemia Mieloide-Linfoide , Piperazinas , Leucemia-Linfoma Linfoblástico de Células Precursoras , Piridinas , Humanos , Anticuerpos Biespecíficos/uso terapéutico , Anticuerpos Biespecíficos/administración & dosificación , Proteína de la Leucemia Mieloide-Linfoide/genética , N-Metiltransferasa de Histona-Lisina/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Inmunoterapia Adoptiva/efectos adversos , Inmunoterapia Adoptiva/métodos , Piperazinas/uso terapéutico , Piridinas/uso terapéutico , Piridinas/efectos adversos , Piridinas/administración & dosificación , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Masculino , Femenino , Reordenamiento Génico , Acrilamidas/uso terapéutico , Niño , Neoplasias Primarias Secundarias/genética , Neoplasias Primarias Secundarias/etiologíaRESUMEN
BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is a rare sarcoma that primarily affects adolescents and young adults. Patients can present with many peritoneal implants. We conducted a phase 2 clinical trial utilizing cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (CRS-HIPEC) with cisplatin for DSRCT and pediatric-type abdominal sarcomas. PATIENTS AND METHODS: A prospective cohort study was performed on 20 patients, who underwent CRS-HIPEC procedures, with cisplatin from 2012 to 2013. All patients were enrolled in the phase 2 clinical trial. Patients with extraabdominal disease and in whom complete cytoreduction (CCR0-1) could not be achieved were excluded. All outcomes were recorded. RESULTS: Fourteen patients had DSRCT, while five patients had other sarcomas. One patient had repeat HIPEC. Patients with DSRCT had significantly longer median overall survival after surgery than patients with other tumors (44.3 vs. 12.5 months, p = 0.0013). The 3-year overall survival from time of diagnosis for DSRCT patients was 79 %. Estimated median recurrence-free survival (RFS) was 14.0 months. However, RFS for patients with DSRCT was significantly longer than for non-DSRCT patients (14.9 vs. 4.5 months, p = 0.0012). Among DSRCT patients, those without hepatic or portal metastases had longer median RFS than those with tumors at these sites (37.9 vs. 14.3 months, p = 0.02). In 100 % of patients without hepatic or portal metastasis, there was no peritoneal disease recurrence after CRS-HIPEC. CONCLUSIONS: Complete CRS-HIPEC with cisplatin is effective in select DSRCT patients. DSRCT patients with hepatic or portal metastasis have poorer outcomes.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Quimioterapia del Cáncer por Perfusión Regional , Procedimientos Quirúrgicos de Citorreducción , Tumor Desmoplásico de Células Pequeñas Redondas/terapia , Hipertermia Inducida , Neoplasias Peritoneales/terapia , Adolescente , Adulto , Quimioterapia Adyuvante , Niño , Preescolar , Terapia Combinada , Tumor Desmoplásico de Células Pequeñas Redondas/patología , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Persona de Mediana Edad , Neoplasias Peritoneales/patología , Pronóstico , Estudios Prospectivos , Tasa de Supervivencia , Adulto JovenRESUMEN
Desmoplastic small round cell tumor (DSRCT) is a rare mesenchymal tumor that typically presents with multiple abdominal masses. Initial treatment is multimodal in nature. Patients with relapsed DSRCT have a poor prognosis, and there are no standard therapies. We report our experience with five patients treated with vinorelbine, cyclophosphamide, and temsirolimus (VCT). Median number of VCT courses delivered was 7 (range 4-14 courses), and partial response was observed in all patients. Median time to progression or relapse was 8.5 months (range 7-16 months). Neutropenia and mucositis were most common toxicities (n = 4 each).
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Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Tumor Desmoplásico de Células Pequeñas Redondas/tratamiento farmacológico , Recurrencia Local de Neoplasia/tratamiento farmacológico , Adolescente , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Niño , Ciclofosfamida/administración & dosificación , Ciclofosfamida/efectos adversos , Tumor Desmoplásico de Células Pequeñas Redondas/diagnóstico por imagen , Femenino , Humanos , Masculino , Mucositis/inducido químicamente , Mucositis/diagnóstico por imagen , Recurrencia Local de Neoplasia/diagnóstico por imagen , Neutropenia/inducido químicamente , Neutropenia/diagnóstico por imagen , Sirolimus/administración & dosificación , Sirolimus/efectos adversos , Sirolimus/análogos & derivados , Vinblastina/administración & dosificación , Vinblastina/efectos adversos , Vinblastina/análogos & derivados , VinorelbinaRESUMEN
BACKGROUND: This phase 1/2 study (NCT01751308) evaluated cabazitaxel in pediatric patients. Phase 1 determined the maximum tolerated dose (MTD) in patients with recurrent/refractory solid tumors, including central nervous system (CNS) tumors. Phase 2 evaluated activity in pediatric recurrent high-grade glioma (HGG) or diffuse intrinsic pontine glioma (DIPG). PROCEDURE: In phase 1, a 3 + 3 dose-escalation study design was followed. Cabazitaxel was administered at a starting dose of 20 mg/m2 . Dose-limiting toxicities (DLTs) during cycle 1 were assessed to determine the MTD. Tumor response and cabazitaxel pharmacokinetics were also assessed. In phase 2, patients received cabazitaxel at the MTD determined in phase 1. Tumor responses were assessed every 9 weeks (modified Response Assessment in Neuro-oncology criteria). Progression-free survival and cabazitaxel pharmacokinetics were evaluated, and overall survival was estimated. RESULTS: In phase 1, 23 patients were treated, including 19 with CNS tumors. One patient had a partial response; five had stable disease for >3 cycles. Common adverse events included fatigue, diarrhea, nausea and vomiting, febrile neutropenia, and hypersensitivity reactions. Two of three DLTs (febrile neutropenia) occurred with a dose of 35 mg/m2 ; the MTD was 30 mg/m2 . Slightly higher cabazitaxel clearance was observed compared with adult trials. In phase 2, 16 patients (eight HGG and eight DIPG) were enrolled; 11 were evaluable for response and five withdrew (three due to anaphylaxis). All 11 patients progressed within four cycles. No responses were observed; the study was stopped due to futility. CONCLUSIONS: The safety profile of cabazitaxel was consistent with previous studies. The MTD (30 mg/m2 ) was higher than the adult MTD. Cabazitaxel did not demonstrate activity in recurrent/refractory HGG or DIPG.
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Antineoplásicos Fitogénicos/uso terapéutico , Neoplasias/tratamiento farmacológico , Taxoides/uso terapéutico , Adolescente , Antineoplásicos Fitogénicos/administración & dosificación , Antineoplásicos Fitogénicos/efectos adversos , Antineoplásicos Fitogénicos/farmacocinética , Neoplasias Encefálicas/tratamiento farmacológico , Niño , Preescolar , Hipersensibilidad a las Drogas/etiología , Femenino , Enfermedades Gastrointestinales/inducido químicamente , Glioma/tratamiento farmacológico , Enfermedades Hematológicas/inducido químicamente , Humanos , Estimación de Kaplan-Meier , Masculino , Dosis Máxima Tolerada , Tasa de Depuración Metabólica , Recurrencia Local de Neoplasia/tratamiento farmacológico , Supervivencia sin Progresión , Taxoides/administración & dosificación , Taxoides/efectos adversos , Taxoides/farmacocinética , Insuficiencia del TratamientoRESUMEN
PURPOSE: A recent classification scheme for retinoblastoma vitreous seeds has shown promise in predicting treatment response. For the first time, we correlate this clinical classification scheme with its histopathologic features. DESIGN: Retrospective review. PARTICIPANTS: Enucleated eyes received at the pathology department of the Retinoblastoma Center of Houston from 2010 to 2015. METHODS: Macroscopic photographs of the enucleated eyes of patients with retinoblastoma were analyzed to select those with vitreous seeds. Cases with adequate material for clinicopathologic correlation were selected for further analysis, and clinical photographs were reviewed. Routine histopathologic slides were reviewed and compared with the clinical and macroscopic photographs. Seeds were classified as type 1 ("dust"), type 2 ("sphere"), or type 3 ("cloud"). To confirm the presence of macrophages, CD68 immunohistochemical staining was used. Synaptophysin was used to stain retinoblastoma cells. MAIN OUTCOME MEASURES: To correlate clinical vitreous seed type with histopathologic features. RESULTS: A total of 14 eyes with adequate amounts of tumor seeds along with clinical and macroscopic photographic correlation were selected from a total of 138 eyes reviewed. Type 1 seeds consisted of individual viable tumor cells and scattered macrophages. Type 2 seeds consisted of 2 submorphologies: spheres with viable cells throughout and spheres with an outer rim of viable cells but necrotic cells centrally. Type 3 seeds were composed of more than 90% necrotic material admixed with few macrophages and viable cells at their outer rim. Untreated (8/14) and previously treated (6/14) eyes showed similar histopathologic features for each type of seeds. Treated eyes had more type 1 and 3 seeds. CONCLUSIONS: We provide the first histopathologic correlation of the clinical classification scheme for vitreous seeds in retinoblastoma. "Dust" is formed by scattered single cells alternating with macrophages. "Spheres" with translucent centers contain multiple layers of viable tumor cells that shed single cells and may be more clinically aggressive. "Cloud" seeds are mostly composed of necrotic material, explaining their lack of therapeutic response. Pretreated eyes showed tumor seeds morphologically similar to untreated eyes. Knowledge of the underlying histopathology of vitreous seed types is a fundamental component of classification and may aid in understanding clinical response to treatment.
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Siembra Neoplásica , Neoplasias de la Retina/clasificación , Neoplasias de la Retina/patología , Retinoblastoma/clasificación , Retinoblastoma/patología , Cuerpo Vítreo/patología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Niño , Preescolar , Terapia Combinada , Crioterapia , Enucleación del Ojo , Femenino , Humanos , Lactante , Infusiones Intraarteriales , Inyecciones Intravenosas , Terapia por Láser , Masculino , Neoplasias de la Retina/terapia , Retinoblastoma/terapia , Estudios RetrospectivosRESUMEN
AIM: Few data exist regarding the clinical characteristics and outcome of young children with Ewing sarcoma family of tumors (ESFT). METHODS: We reviewed the records of ESFT patients at our institution younger than 10 years of age at diagnosis. RESULTS: Forty-two patients were identified. Median age was 6.4 years (range 0.6-9.5 years). Most patients had T2 (>5 cm) tumors (n = 31; 74%). Most common primary site was the extremity (n = 17; 41%). Seven patients (17%) had metastasis at diagnosis. For local tumor control, 20 patients had surgery only, 13 had radiation therapy only, and 6 had surgery plus radiation. Surgical margin status was negative in 19 patients (73%). Median follow-up was 4.7 years (range 0.7-29.7 years), and 5-year relapse-free survival (RFS) and overall survival (OS) estimates were 67% (95% CI: 53-84%) and 82% (95% CI: 71-95%), respectively. Metastasis at presentation was the only significant predictor for decreased RFS (P = 0.008) and OS (P = 0.01). A trend was seen for T2 tumors with worse OS (P = 0.09). CONCLUSION: Patients younger than 10 years of age with ESFT may have a better OS than older patients, but further study of a homogeneously treated larger cohort is needed.
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Neoplasias Óseas/terapia , Sarcoma de Ewing/terapia , Neoplasias Óseas/secundario , Niño , Preescolar , Terapia Combinada , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Metástasis Linfática , Masculino , Estadificación de Neoplasias , Pronóstico , Estudios Retrospectivos , Sarcoma de Ewing/patología , Tasa de SupervivenciaRESUMEN
Glomus tumors are hamartomas, which tend to occur in sites rich in glomus bodies, such as the subungual regions of digits or the deep dermis of the palm, wrist, forearm, and foot. Very rarely, they may involve peripheral nerves. We describe a patient, who, following surgical resection of a solitary glomus tumor of the left distal sciatic nerve in his teens, had recurrence with development of multiple tumors in the course of the nerve over several years. To our knowledge, this is the only known case of glomangiomatosis involving a major peripheral nerve.
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Tumor Glómico/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Recurrencia Local de Neoplasia/diagnóstico por imagen , Neoplasias del Sistema Nervioso Periférico/diagnóstico por imagen , Nervio Ciático/diagnóstico por imagen , Adolescente , Tumor Glómico/cirugía , Humanos , Masculino , Neoplasias del Sistema Nervioso Periférico/cirugía , Nervio Ciático/cirugíaRESUMEN
BACKGROUND: Pegylated interferon α-2b (IFN α-2b) improves disease-free survival in adults with resected stage III melanoma. We conducted a study to determine the feasibility and safety of incorporating pegylated IFN α-2b as adjuvant therapy in the treatment of children and adolescents with high-risk melanoma. Pharmacokinetic studies of IFN α-2b and neuropsychological and quality of life (OL) assessments were performed. PATIENT AND METHODS: Eligible patients with resected American Joint Committee on Cancer Stage IIC, IIIA, and IIIB cutaneous melanoma received nonpegylated IFN α-2b 20 million units/m(2) /day intravenously 5 days per week for 4 weeks (induction) followed by pegylated IFN α-2b 1 µg/kg/dose weekly subcutaneously (SQ) for 48 weeks (maintenance). RESULTS: Twenty-three patients (15 females, median age 10 years) were enrolled. All patients completed induction therapy; five patients did not complete maintenance therapy either because of recurrent disease (n = 2) or toxicity (n = 3). The most common grade 3 and 4 toxicities of pegylated IFN α-2b were neutropenia (35%) and elevated liver transaminases (17%). The median nonpegylated IFN α-2b AUC0-∞ (5,026 pcgâ hr/ml) was similar to adults. The median pegylated IFN α-2b exposure (48,480 pcgâ hr/ml) was greater than the cumulative weekly exposure for nonpegylated IFN α-2b administered SQ three times per week (TIW). Validated measures demonstrated an improvement in QOL scores and no decline in psychological functioning over the course of therapy. CONCLUSIONS: Pegylated IFN α-2b 1 µg/kg/dose SQ weekly as maintenance therapy in children and adolescents with high-risk melanoma is feasible with tolerable toxicity and appears to yield higher exposures than nonpegylated IFN α-2b administered SQ TIW.
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Interferón-alfa/administración & dosificación , Melanoma/tratamiento farmacológico , Melanoma/mortalidad , Polietilenglicoles/administración & dosificación , Adolescente , Adulto , Niño , Preescolar , Supervivencia sin Enfermedad , Femenino , Humanos , Interferón alfa-2 , Interferón-alfa/efectos adversos , Masculino , Polietilenglicoles/efectos adversos , Proteínas Recombinantes/administración & dosificación , Proteínas Recombinantes/efectos adversos , Factores de Riesgo , Tasa de Supervivencia , Adulto JovenRESUMEN
BACKGROUND: Robatumumab (19D12; MK-7454 otherwise known as SCH717454) is a fully human antibody that binds to and inhibits insulin-like growth factor receptor-1 (IGF-1R). This multiinstitutional study (P04720) determined the safety and clinical efficacy of robatumumab in three separate patient groups with resectable osteosarcoma metastases (Group 1), unresectable osteosarcoma metastases (Group 2), and Ewing sarcoma metastases (Group 3). PROCEDURE: Robatumumab infusions were administered every 2 weeks and were well tolerated with minimal toxicity. Centrally reviewed response data were available for 144 patients. RESULTS: Low disease burden was important for osteosarcoma response: three of 31 patients had complete response or partial response (PR) by Response Evaluation Criteria in Solid Tumors (RECIST) in resectable patients (Group 1) versus zero of 29 in unresectable patients (Group 2); median overall survival was 20 months in Group 1 versus 8.2 months in Group 2. In centrally reviewed patients with Ewing sarcoma with PET-CT data (N = 84/115), there were six PR, 23 stable disease, and 55 progression of disease by RECIST at 2 months. Patients with Ewing sarcoma had a median overall survival of 6.9 months. However, responding patients with Ewing sarcoma were allowed to continue on treatment after study closure. A minority of patients with metastatic Ewing sarcoma showed clinical responses and have remained healthy after receiving 25-115 doses of robatumumab with remissions of >4 years duration (N = 6). CONCLUSIONS: These findings show that although the IGF-1R remains an attractive treatment target, additional research is needed to identify responders and/or means to achieve durable remissions in order to successfully exploit IGF-1R signal blockade in Ewing sarcoma (clinicaltrials.gov: NCT00617890).
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Anticuerpos Monoclonales/uso terapéutico , Neoplasias Óseas/tratamiento farmacológico , Osteosarcoma/tratamiento farmacológico , Receptor IGF Tipo 1/antagonistas & inhibidores , Sarcoma de Ewing/tratamiento farmacológico , Adolescente , Adulto , Anciano , Anticuerpos Monoclonales/efectos adversos , Anticuerpos Monoclonales Humanizados , Neoplasias Óseas/mortalidad , Niño , Femenino , Humanos , Antígeno Ki-67/análisis , Masculino , Persona de Mediana Edad , Osteosarcoma/mortalidad , Sarcoma de Ewing/mortalidadRESUMEN
BACKGROUND: The current standard of care for initial staging of pediatric Ewing sarcoma (EWS) patients is to obtain a bilateral bone marrow aspiration and biopsy (BMAB). The incidence of bone marrow (BM) disease in patients deemed non-metastatic by conventional and metabolic imaging and the concordance of BM positivity with other clinical characteristics are not well established. PROCEDURE: This study is a multi-institutional retrospective review of newly diagnosed EWS patients less than 40 years of age with initial staging that included imaging and BMAB. RESULTS: A total of 116 patients were eligible with 85 patients considered non-metastatic and 31 considered metastatic by imaging. None of the 85 patients with non-metastatic disease were BMAB positive (0%; 95% CI: 0-4.2%); 13 of the 31 patients with metastases were BMAB positive (41.9%; 95% CI: 24.5-60.9%). Primary tumor size was significantly higher in patients with metastases (P = 0.017). Bone metastasis by imaging had high correlation with BMAB positivity (P = 0.0002). In addition, the number of bony metastatic sites was significantly higher in patients with a positive BMAB as compared to those with a negative BMAB (median 3.5 and 0.0, respectively; P < 0.001). CONCLUSIONS: BMAB may not be required for initial staging of pediatric and young adult EWS patients deemed non-metastatic by imaging. In patients with metastatic disease, there is a high correlation of BM involvement with multiple bone metastases.
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Biopsia con Aguja/estadística & datos numéricos , Médula Ósea/patología , Neoplasias Óseas/secundario , Sarcoma de Ewing/patología , Adolescente , Adulto , Neoplasias Óseas/cirugía , Niño , Preescolar , Diagnóstico por Imagen , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Estadificación de Neoplasias , Pronóstico , Estudios Retrospectivos , Sarcoma de Ewing/cirugía , Adulto JovenRESUMEN
Pancreatoblastoma is a rare tumor of the pancreas in children, with favorable prognosis if completely resected. If unresectable, neoadjuvant chemotherapy with cisplatin-based regimens are commonly used with good response that allows for resection. For locally aggressive or metastatic disease, neoadjuvant chemotherapy has been reported. Treatment for relapsed or refractory cases is based on anecdotal experiences. We report 2 cases of relapsing pancreatoblastoma with clinical and radiologic response to vinorelbine and cyclophosphamide. Although cure was not achieved, this combination can be offered as an easily tolerated alternative to aggressive chemotherapy for relapsed cases in a palliative setting.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Terapia Combinada/efectos adversos , Neoplasias Hepáticas/tratamiento farmacológico , Neoplasias Pulmonares/tratamiento farmacológico , Recurrencia Local de Neoplasia/tratamiento farmacológico , Neoplasias Pancreáticas/complicaciones , Administración Oral , Niño , Preescolar , Ciclofosfamida/administración & dosificación , Femenino , Humanos , Neoplasias Hepáticas/etiología , Neoplasias Hepáticas/secundario , Neoplasias Pulmonares/etiología , Neoplasias Pulmonares/secundario , Masculino , Recurrencia Local de Neoplasia/etiología , Recurrencia Local de Neoplasia/patología , Estadificación de Neoplasias , Neoplasias Pancreáticas/patología , Neoplasias Pancreáticas/terapia , Pronóstico , Vinblastina/administración & dosificación , Vinblastina/análogos & derivados , VinorelbinaRESUMEN
Angiomatoid fibrous histiocytoma (AFH) is a soft-tissue tumor of low-grade malignancy and uncommon metastatic behavior. In this study, we describe the clinical findings of a metastatic case of AFH in the pelvis. In addition, we characterize 16 patients in the literature with AFH who metastasized over the last 4 decades. The time of appearance of metastases varied substantially and was reported 5 months to 16 years after primary tumor resection. Nine patients metastasized to lymph nodes. Excision of metastatic lymph nodes was usually curative. Pulmonary metastases were associated with fatal outcome. Long-term monitoring should be considered in patients with AFH.
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Histiocitoma Fibroso Maligno/patología , Niño , Femenino , Humanos , Metástasis de la NeoplasiaRESUMEN
BACKGROUND: Pediatric neuroendocrine tumors (NETs) are rare tumors. The purpose of this study is to report the clinical characteristics and outcomes of pediatric patients treated for NET at a single institution. PROCEDURE: A retrospective record review. RESULTS: There were 33 evaluable patients with median age of 17.9 years (range, 9.9 to 21.9 y) and predominantly females (58%). There were 17 patients with well-differentiated appendiceal NET, whereas 16 were nonappendiceal. Most common nonappendiceal sites were unknown primary (N=6) and pancreas (N=4). Majority of tumors were low grade (N=24, 73%) and small (T1, N=22, 67%). Nonappendiceal tumors were more likely to be larger or high-grade tumors (5/16, 31%), or with metastasis. All appendiceal NET patients underwent curative surgery. All patients who experienced treatment failure had nonappendiceal NET, despite prior chemotherapy in 8 of 9 patients. The 5-year overall survival rates for patients with appendiceal and nonappendiceal NET were 100% and 66% (95% CI, 45%-95%; P=0.006); and 5-year relapse-free survival rate for patients with appendiceal and nonappendiceal NET were 100% and 41% (95% CI, 22%-75%; P=0.002). CONCLUSIONS: Well-differentiated appendiceal tumors were the most common pediatric NET and have an excellent prognosis. Better therapies are needed for patients with nonappendiceal NET.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias del Apéndice/patología , Recurrencia Local de Neoplasia/patología , Tumores Neuroendocrinos/patología , Adolescente , Adulto , Neoplasias del Apéndice/tratamiento farmacológico , Neoplasias del Apéndice/mortalidad , Niño , Femenino , Estudios de Seguimiento , Humanos , Masculino , Clasificación del Tumor , Metástasis de la Neoplasia , Recurrencia Local de Neoplasia/tratamiento farmacológico , Recurrencia Local de Neoplasia/mortalidad , Estadificación de Neoplasias , Tumores Neuroendocrinos/tratamiento farmacológico , Tumores Neuroendocrinos/mortalidad , Pronóstico , Estudios Retrospectivos , Tasa de Supervivencia , Adulto JovenRESUMEN
Small cell carcinoma of the ovary, hypercalcemic type is a very rare, highly aggressive tumor associated with a poor prognosis. Diagnosis is typically challenging secondary to undifferentiated cells and the rarity of the tumor. We report our experience with a 5-year-old girl who presented with stage IV disease.
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Calcinosis/patología , Carcinoma de Células Pequeñas/patología , Neoplasias Ováricas/patología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Calcinosis/tratamiento farmacológico , Calcinosis/cirugía , Carcinoma de Células Pequeñas/tratamiento farmacológico , Carcinoma de Células Pequeñas/cirugía , Preescolar , Terapia Combinada , Resultado Fatal , Femenino , Humanos , Hipercalcemia/complicaciones , Neoplasias Ováricas/tratamiento farmacológico , Neoplasias Ováricas/cirugíaRESUMEN
We present, to our knowledge, the first reported case of germline neurofibromatosis Type 2 (NF2) associated with renal cell carcinoma unclassified with medullary phenotype (RCCU-MP) with somatic loss by immunohistochemistry of the SMARCB1 tumor suppressor gene located centromeric to NF2 on chromosome 22q. Our patient is a 15-year-old with germline neurofibromatosis Type 2 (NF2) confirmed by pathogenic mutation of c.-854-??46+??deletion. Her NF2 history is positive for a right optic nerve sheath meningioma, CNIII schwannoma requiring radiation therapy and post gross total resection of right frontotemporal anaplastic meningioma followed by radiation. At age 15 she developed new onset weight loss and abdominal pain due to RCCU-MP. Hemoglobin electrophoresis was negative for sickle hemoglobinopathy. Chemotherapy (cisplatin, gemcitabine and paclitaxel) was initiated followed by radical resection. Given the unique renal pathology of a high grade malignancy with loss of SMARCB1 expression via immunohistochemistry, and history of meningioma with MLH1 loss of expression and retained expression of PMS2, MSH2 and MSH6, further germline genetic testing was sent for SMARCB1 and mismatch repair syndromes. Germline testing was negative for mutation in SMARCB1. Therefore, this is the first reported case of RCCU-MP associated with germline NF2 mutation. This suggests the importance of closer surveillance in the adolescent and young adult population with NF2 with any suspicious findings of malignancy outside of the usual scope of practice with NF2.
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Carcinoma de Células Renales , Neoplasias Renales , Neoplasias Meníngeas , Meningioma , Neurofibromatosis 2 , Femenino , Humanos , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/patología , Neoplasias Renales/genética , Neoplasias Renales/patología , Neoplasias Meníngeas/genética , Meningioma/genética , Neurofibromatosis 2/complicaciones , Neurofibromatosis 2/genética , FenotipoRESUMEN
PURPOSE: Developing new therapeutics for any of the more than 100 sarcoma subtypes presents a challenge. After progression from standard therapies, patients with sarcoma may be referred for enrollment in early-phase trials. This study aimed to investigate whether enrollment in biomarker-matched early-phase clinical trials leads to better outcomes for patients with advanced sarcoma. EXPERIMENTAL DESIGN: In this retrospective analysis, investigational treatment characteristics and longitudinal survival outcomes were analyzed in patients with biopsy-confirmed sarcoma enrolled in early-phase trials at MD Anderson Cancer Center from May 2006 to July 2021. RESULTS: Five hundred eighty-seven patients were included [405 soft tissue, 122 bone, 60 gastrointestinal stromal tumor (GIST); median of three prior lines of therapy]. Most common subtypes were leiomyosarcoma (17.2%), liposarcoma (14.0%), and GIST (10.2%). Molecular testing was available for 511 patients (87.1%); 221 patients (37.6%) were treated in matched trials. Overall response rate was 13.1% matched compared with 4.9% in unmatched (P < 0.001); the clinical benefit rate at 6 months was 43.9% vs. 19.9% (P < 0.001). Progression-free survival was longer for patients in matched trials (median, 5.5 vs. 2.4 months; P < 0.001), and overall survival was also superior for patients in matched trials (median, 21.5 vs. 12.3 months; P < 0.001). The benefit of enrollment in matched trials was maintained when patients with GIST were excluded from the analysis. CONCLUSIONS: Enrollment in biomarker-matched early-phase trials is associated with improved outcomes in heavily pretreated patients with metastatic sarcoma. Molecular testing of tumors from patients with advanced sarcoma and enrollment in matched trials is a reasonable therapeutic strategy.
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Tumores del Estroma Gastrointestinal , Sarcoma , Neoplasias de los Tejidos Blandos , Humanos , Tumores del Estroma Gastrointestinal/tratamiento farmacológico , Tumores del Estroma Gastrointestinal/genética , Estudios Retrospectivos , Sarcoma/diagnóstico , Sarcoma/tratamiento farmacológico , Neoplasias de los Tejidos Blandos/patología , BiomarcadoresRESUMEN
OBJECTIVES: Cervical rhabdomyosarcoma is extremely rare, and there is a paucity of literature on the subject. The purpose of this study was to describe the clinical and pathologic features of cervical rhabdomyosarcoma. METHODS: We retrospectively reviewed all patients with cervical rhabdomyosarcoma who presented to our institution from 1980 to 2010. We reviewed pathologic, demographic, and clinical information. RESULTS: During the study period, 11 females presented with cervical rhabdomyosarcoma. The median age at presentation was 18.4 years, and 6 patients were <19 years old at diagnosis. Vaginal bleeding was the most common presenting symptom, and a vaginal mass was often a co-presenting symptom. Eight patients (73%) presented with stage IB disease, and 8 (73%) presented with the embryonal (botryoid) histologic subtype. Nine patients (82%) received multimodal therapy consisting of surgery with chemotherapy, radiation therapy, or both. All patients were without evidence of disease after completion of primary therapy, but 3 patients experienced local recurrence. At a median follow-up of 23 months, 6 patients (55%) were without evidence of disease, 1 (9%) was alive with disease, 1 (9%) had died of disease, and 3 (27%) had died of other causes. Three patients (27%) had other primary malignancies in addition to rhabdomyosarcoma-1 had a Sertoli-Leydig tumor, 1 had a Sertoli-Leydig tumor and a pinealoblastoma, and 1 had thyroid cancer and a parotid adenocarcinoma. CONCLUSIONS: With multimodal therapy, cervical rhabdomyosarcoma appears to be associated with a good prognosis. Favorable prognostic factors such as early stage at diagnosis and a favorable histologic subtype may contribute to the excellent observed survival.
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Recurrencia Local de Neoplasia/tratamiento farmacológico , Rabdomiosarcoma/patología , Rabdomiosarcoma/terapia , Neoplasias del Cuello Uterino/patología , Neoplasias del Cuello Uterino/terapia , Adolescente , Adulto , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Estadificación de Neoplasias , Estudios Retrospectivos , Rabdomiosarcoma/complicaciones , Neoplasias del Cuello Uterino/complicaciones , Hemorragia Uterina/etiología , Adulto JovenRESUMEN
Gastric adenocarcinoma (GAC) is an extremely rare cancer in children with very limited information on the clinical presentation and outcome. We report five pediatric patients with GAC-treated between 1990 and 2008 at our institution. Median age at diagnosis was 17 years (range: 8-17). Our case series suggests that pediatric GAC patients present with diffuse metastatic disease (four patients) and with patterns of spread similar to adult GAC. Initial chemotherapy was mainly platinum-based. Median time to progression was 4 months. The only long-term survivor was a patient with localized disease who had complete surgical removal of primary tumor.
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Adenocarcinoma , Neoplasias Gástricas , Adolescente , Antígenos de Neoplasias/análisis , Niño , Familia , Femenino , Humanos , Inmunohistoquímica , Masculino , Metástasis de la Neoplasia , Neoplasias Gástricas/mortalidad , Neoplasias Gástricas/patología , Neoplasias Gástricas/terapia , Resultado del TratamientoRESUMEN
Melanoma is an uncommon tumour in childhood. Only isolated cases in pregnant patients younger than 18 years old have been previously described, therefore the biological behaviour of cutaneous melanoma in this group of age remains largely unknown. We report a single-institution experience with three patients who developed cutaneous melanoma before the age of 18 years and became pregnant concomitantly or during the course of the disease. High tumour thickness was attributed to later diagnosis and could be responsible for the aggressive biological behaviour in these patients. This delay was in part due to patients considering changes in nevi to be normal during pregnancy. The effect of pregnancy on the prognosis of patients with melanoma, particularly the role of hormonal and immunological factors on clinical outcome, survival and risk of developing metastases, as well as the differences between adolescent and adult populations are still controversial. Since there are no specific treatment strategies for this group of patients, treatment recommendations should be established according to adult experience.