ABSTRACT
SMARCB1 (INI-1)-deficient sinonasal carcinoma is a rare, poorly differentiated carcinoma defined by complete loss of tumor suppressor gene SMARCB1 (INI-1) within the neoplastic cell nuclei demonstrated by the immunohistochemical stain. SMARCB1 (INI-1) gene inactivation has been implicated in the pathogenesis of a diverse group of malignant neoplasms that tend to share “rhabdoid” morphology. SMARCB1 (INI-1)-deficient sinonasal carcinoma was first reported by Agaimy et al. in 2014. These tumors are often basaloid with focal rhabdoid differentiation, prominent necrosis, increased mitotic activity, and aggressive behavior. Other than being INI-1 and NUT negative, they are positive for pancytokeratin and express variable immunoreactivity for squamous markers like p63 and neuroendocrine markers like synaptophysin. Most patients present with locally advanced disease and hence a combination of chemotherapy, radiotherapy, and surgery is usually recommended.
ABSTRACT
Embryonal tumors are a heterogenous group of neoplasms mostly defined by recurrent genetic driver events. They have been, previously, broadly classified as either medulloblastoma or supratentorial primitive neuroectodermal tumors (PNETs). However, the application of DNA methylation/gene expression profiling in large series of neoplasms histologically defined as PNET, revealed tumors, which showed genetic events associated with glial tumors. These findings led to the definitive removal of the term “PNET” in the 2016 World Health Organization (WHO) classification of CNS tumors. Moreover, further studies on a large scale of methylation profiling have allowed the identification of new molecular-defined entities and have largely influenced the 5th edition of the WHO classification of CNS tumors (WHO CNS5) for both medulloblastomas and other CNS embryonal tumors. The importance of molecular characteristics in CNS embryonal tumors is well represented by the identification of different molecular groups and subgroups in medulloblastoma. So, in the CNS5, the emerged group 3 and group 4 belong to the classification, and the four molecular and morphologic types are now combined into a unique section. Among other embryonal tumors, two new recognized entities are introduced in CNS5: CNS neuroblastoma, FOXR2-activated, and CNS tumor with BCOR internal tandem duplication (ITD). Embryonal tumor with multilayered rosettes (ETMR), already present in the previous classification now has a revised nomenclature as a result of the new DICER1 alteration, additional to the formerly known C19MC. Regarding atypical teratoid/rhabdoid tumor (AT/RT), three molecular subgroups are recognized in CNS5. The combination of histopathological and molecular features reflects the complexity of all these tumors and gives critical information in terms of prognosis and therapy. This encourages the use of a layered diagnostic report with the integrated diagnosis at the top, succeeded by layers including the histological, molecular, and other essential details.
ABSTRACT
We report the clinical characteristics of congenital malignant rhabdoid tumor (MRT) of the neck in a fetus. Prenatal ultrasound and MRI at 33 +4 and 34 weeks gestation revealed a round solid mass on the right side of the fetus' neck. An initial differential diagnosis was between neuroblastoma and vascular malformation. Re-examination with ultrasound at 36 gestational weeks revealed an enlarged fetal neck mass, with concomitant multiple subcutaneous solid masses all over his body, right-side hydrothorax, and abnormal liver echo, which were highly suspicious of metastasis of a malignant tumor. The baby boy was delivered by cesarean section at 37 weeks of gestation with a normal Apgar score and slight shortness of breath. Physical examination showed scattered lesions in the neck, armpits, and limbs, etc. The condition of the infant deteriorated rapidly with the increasing number and volume of the masses after admission. The boy was confirmed as MRT (stage Ⅳ) by pathological biopsy on the left upper arm and died on postnatal day 10 after treatment was withdrawn.
ABSTRACT
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare central nervous system (CNS) tumor diagnosed primarily in infants and usually portends a poor prognosis. Despite being the most common embryonal tumor in children less than 1 year old, diagnosis is difficult to make based on clinical findings or imaging alone. A complete diagnosis of AT/RT requires identification of loss of integrase interactor 1 (INI1) protein or the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 (SMARCB1) gene, in its most common presentation. Moreover, their presentation with other primary rhabdoid tumors in the body raises significant suspicion for rhabdoid tumor predisposition syndrome (RTPS). We report a case of a one-month-old infant admitted for worsening emesis and failure to thrive, who was later found to have brain and bladder masses on radiologic imaging. Autopsy with subsequent immunoprofile and molecular testing were crucial in establishing the absence of INI1 nuclear expression and possible homozygous deletion of SMARCB1 in the urinary bladder tumor tissue. Sequencing of the peripheral blood demonstrated probable single copy loss at the SMARCB1 locus. The constellation of findings in tumor and peripheral blood sequencing suggested the possibility of germline single copy SMARCB1 loss, followed by somatic loss of the remaining SMARCB1 allele due to copy neutral loss-of-heterozygosity. Such a sequence of genetic events has been described in malignant rhabdoid tumors (MRT). Dedicated germline testing of this patient's family members could yield answers as to whether rhabdoid tumor predisposition syndrome will continue to have implications for the patient's family.
Subject(s)
Humans , Female , Infant , Brain Neoplasms/pathology , Rhabdoid Tumor/pathology , Autopsy , Urinary Bladder Neoplasms/pathology , Fatal OutcomeABSTRACT
BACKGROUND:Central nervous system tumors constitute second most common paediatric cancers.Emyonal tumors are neoplasms of immature cells resembling primitive neuroepithelium.All are similarly aggressive and have a tendency to disseminate throughout CNS.Therefore identification of specific subtype helps in prognosis evaluation,to avoid unnecessary treatment related neurotoxicity and further treatment implications. METHODS: This is a retrospective study conducted at The Department of neuropathology, Institute of neurosurgery MMC/RGGGH from January 2015 to December 2017.A total of 34 cases of Emyonal tumors were reviewed during this period.Among which Medulloblastoma was reclassified histopathologically based upon the World Health Organisation 2016 classification of CNS tumors.Data on clinical presentation and radiological features of all cases were collected from patients records.In all cases gross features were recorded during grossing of the resected tumors.The tissue sections were processed and stained as per standard protocols. IHC markers were done in deserving cases .Age predilection,Sex Predilection,Tumor location,Comparison with squash and Histological grade in relation to age of emyonal tumors studied. RESULTS:Out of 1422 cases evaluated in adults emyonal tumors comprised 0.21%(3 cases).Out of 150 cases evaluated in chidren aged 16 years emyonal tumors comprised 20.6%(31 cases).Sex ratio(males to females) 2:1 males outnumbering females.94.11%(32 cases) of emyonal tumors presented as posterior fossa tumors,2.94%(1 case) presented as hypothalamic SOL,2.94%(1 case) presented with multiple lesions in spine and cranium–This was a rare case of Atypical Teratoid /Rhabdoid tumor presented with drop metastasis.5.88%(2 cases) presented as recurrent tumors.82.3%(28 cases) presented histologically as classic medulloblastomas,2.94%(1 case) presented as Anaplastic/Large cell type, 2.94%(1 case) presented as Desmoplastic type,11.76%(4 cases) presented as Atypical Teratoid/Rhabdoid tumor.Most commonly affected age group is 6–10 years comprising 50%(17 cases),20.5%(7 cases) affecting 0–5 years, 20.5%(7 cases) affecting 11–16 years. CONCLUSION:Emyonal tumors are highly malignant tumors affecting children from early infancy to adolescence .Because of efforts to avoid craniospinal irradiation in an attempt to lessen treatment related neurotoxicity,diagnosis and management is very important.
ABSTRACT
Objective To demonstrate the clinical and imaging features of extrarenal malignant rhabdoid tumor (MRT) outside the central nervous system(CNS) in children and to raise awareness of the disease.Methods A retrospective database review was made of 15 patients diagnosed with extrarenal MRT outside the CNS in Beijing Children's Hospital,Capital Medical University from April 2008 to February 2017.The ultrasound,CT and magnetic resonance imaging(MRI) examinations were performed in 12,10 and 7 cases,respectively,and the clinical and imaging features were analyzed.Results The 15 patients included 8 boys and 7 girls.The age at presentation varied from 11 days to 12 years and 9 months old with a median age of 4 years old.The primary tumors were predominant solid masses,most of which were irregular,with a length of 2.20-11.70 cm [(5.87 ± 2.57) cm].The primary tumors had variable locations,relatively tended to occur in the head and neck region (6 cases) and the mediastinum (4 cases).On ultrasound,11 cases of the tumors were heterogeneous,7 cases of the tumors were accompanied with cystic change,and the solid part was mainly hypoechoic.On CT,density of 6 cases of the tumors was uneven,3 cases presented cystic change,4 cases were with calcification,and the solid part had slightly low density,with enhancement of different degrees.On MRI,7 cases of tumors showed mixed signal,5 cases with cystic change of different degrees;the solid part mainly showed isointensity or slightly hypointensity on T1 weighted image and hyperintensity or slightly hyperintensity on T2 weighted image,with restricted diffusion and predominantly heterogeneous enhancement.Medical imaging showed definite hemorrhage within tumors in 5 patients,and metastases occurred in 6 patients at the time of diagnosis,the adjacent bone destruction occurred in 3 patients,and the tumor tissue of 3 patients extended into the spinal canal.Conclusion Extrarenal MRT outside the CNS is more common in preschool kids,most of which are large and heterogeneous solid masses,often with cystic change,sometimes with hemorrhage and calcification;the solid part with restricted diffusion and inhomogeneous enhancement.Some of the patients had metastasis and local invasion.
ABSTRACT
An atypical teratoid/rhabdoid tumor (AT/RT) is a rare malignancy occurring in the first few years of life. This tumor shows rapid growth, a poor response to treatment, and poor prognosis. Cutaneous metastases presents as hamartomatous lesions mimicking skin tags. Immunohistochemical examination shows varied patterns of expression based on the sites of the body affected. Integrase interactor-1 (INI-1) gene sequencing and loss of expression of INI-1 observed with immunostaining can confirm AT/RT. In our patient, the skin lesion was identified at birth. Histopathological examination of the skin lesion could not establish an accurate diagnosis. Two months later, the patient presented with a brain tumor. Immunohistochemical examination of the brain lesion revealed complete loss of INI-1 expression in tumor cells, and the lesion was diagnosed as AT/RT. After that, we can detect the loss of INI-1 expression in the skin on the back. We report a rare case of AT/RT affecting the brain with cutaneous metastasis diagnosed with immunohistochemical staining.
Subject(s)
Humans , Brain , Brain Neoplasms , Diagnosis , Integrases , Neoplasm Metastasis , Parturition , Prognosis , SkinABSTRACT
Pediatric renal tumors represent a diverse group, which include Wilms' tumor (WT), renal cell carcinoma (RCC), clear cell sarcoma of the kidney (CCSK), congenital mesoblastic nephroma, malignant rhabdoid tumor of the kidney (MRTK) and primitive neuroectodermal tumor. WT (85%) and RCC (8%) are the most prevalent types. WT predominates among the 1- to 10-year age group, but RCC exceeds WT in children over age 10 years. Pediatric renal tumors are genetically, histologically and clinically heterogeneous. The overall survival for children with localized WT is currently more than 90%, whereas poorer survival rates are observed for anaplastic WT, metastatic WT, metastatic CCSK, MRTK, metastatic RCC and relapsed WT. Therefore risk-stratified treatment is important to minimize treatment morbidity while preserving survival. This review focuses on distinct characteristics of each tumor type and optimal stratified treatment.
Subject(s)
Child , Humans , Carcinoma, Renal Cell , Kidney , Nephroma, Mesoblastic , Neuroectodermal Tumors, Primitive , Rhabdoid Tumor , Sarcoma, Clear Cell , Survival Rate , Wilms TumorABSTRACT
Background: Atypical teratoid/rhabdoid tumors (AT/RT) are aggressive embryonal tumors of the central nervous system. They are largely characterized by inactivating mutations of the SMARCB1 tumor suppressor gene. AT/RT patients have a very poor prognosis and no standard therapeutic protocol has been defined yet. Recently, multimodal therapy with multiple drug combinations has slightly improved the overall survival, however drug toxicity remains high. In this scenario, a better understanding of the pathophysiology of the disease is needed. Methods: We evaluated the gene expression profile of AT/RT samples to find new genetic factors contributing to the pathophysiology of the disease. We found target genes significantly differentially expressed between AT/RT and medulloblastoma (MB), the most common embryonal brain tumor. The mRNA expression was validated by quantitative real-time PCR and, at the protein level, expression was validated by immunohistochemistry in an independent set of tumors. Results: The Neural cell adhesion molecule 1 (NCAM1) gene was found to be consistently downregulated in AT/RT samples when compared to MB and normal brain tissue. Immunohistochemistry showed that the expression of NCAM1 in AT/RT was significantly lower than that of MB. Conclusion: NCAM1 is an important molecule involved in neuron-to-neuron and neuron-to-muscle adhesion during development. Downregulation of NCAM1 has been implicated in several human cancers suggesting that it might have a tumor repressor role. In this study we found a significantly reduced expression of NCAM1 in AT/RT when compared to MB and we suggest that this feature can be used as a diagnostic marker, along with demonstration of SMARCB1 (INI1) or SMARCA4 (BRG1) inactivation. The roles of NCAM1 in the pathophysiology of AT/RT are still to be determined (AU)
Subject(s)
Humans , Teratoma/diagnosis , Immunoglobulins , Biomarkers, Tumor , Rhabdoid Tumor/diagnosis , CD56 AntigenABSTRACT
Pediatric renal tumors represent a diverse group, which include Wilms' tumor (WT), renal cell carcinoma (RCC), clear cell sarcoma of the kidney (CCSK), congenital mesoblastic nephroma, malignant rhabdoid tumor of the kidney (MRTK) and primitive neuroectodermal tumor. WT (85%) and RCC (8%) are the most prevalent types. WT predominates among the 1- to 10-year age group, but RCC exceeds WT in children over age 10 years. Pediatric renal tumors are genetically, histologically and clinically heterogeneous. The overall survival for children with localized WT is currently more than 90%, whereas poorer survival rates are observed for anaplastic WT, metastatic WT, metastatic CCSK, MRTK, metastatic RCC and relapsed WT. Therefore risk-stratified treatment is important to minimize treatment morbidity while preserving survival. This review focuses on distinct characteristics of each tumor type and optimal stratified treatment.
Subject(s)
Child , Humans , Carcinoma, Renal Cell , Kidney , Nephroma, Mesoblastic , Neuroectodermal Tumors, Primitive , Rhabdoid Tumor , Sarcoma, Clear Cell , Survival Rate , Wilms TumorABSTRACT
El tumor Rabdoide/Teratoide atípico (AT/RT) representa un subtipo tumoral primario de sistema nervioso central bastante raro, con un alto grado de malignidad y de pobre pronóstico (grado IV según OMS) encontrándose principalmente en niños menores de 3 años sin antecedentes de importancia y con cuadros clínicos bastante insidiosos que representa un reto en cuanto al diagnóstico y tratamiento teniendo en cuenta la limitada cantidad de casos reportados a nivel mundial, así como poca literatura disponible. Presentamos el caso de una paciente femenina de 23 meses de edad quien ingresa al servicio de urgencias del Hospital Militar Central (Bogotá, Colombia) en coma con midriasis izquierda, deshidratación grado 2, con escanografía cerebral simple de ingreso donde se observa lesión ligeramente isodensa fronto parieto occipital izquierda con sangrado intralesional que ejerce importante efecto de masa desplazando la línea media 22 mm y produce herniación del uncus, paraclínicos que reportan anemia, trombocitopenia y tiempos de coagulación prolongados, por lo cual se decide ingresar a salas de cirugía como urgencia vital realizando resección de lesión macroscópica de aspecto grisáceo, muy vascularizada, similar al tejido cerebral con sangrado fácil y muy difícil de controlar. 72 horas después requiere nueva intervención quirúrgica por inestabilidad hemodinámica durante el postoperatorio encontrando lesión de similares características, se envían muestras a patología reportando diagnóstico patológico definitivo: tumor Teratoide Rabdoide atípico grado IV OMS.
Atypical teratoid rhabdoid tumor (AT/RT) represents a subtype of malignant CNS neoplasms quite rare, with a high degree of malignancy and poor prognosis (WHO grade IV) found mainly in children younger than 3 years old without medical history of diseases and with Clinical characteristics quite insidious that represents a challenge in the diagnosis and treatment taking into account the limited number of cases reported, as well as little literature available. We report a 23 months of age female who is admitted to the emergency room of the Central Military Hospital (Bogotá, Colombia) in coma with mydriasis, dehydration, In the cranial scan showed injury slightly isodensa fronto-parieto-occipital left with intralesional bleeding that exerts important mass effect by moving the Midline of the brain 22 mm and produces herniation of the uncus, paraclinical reported anemia, thrombocytopenia and prolonged coagulation times, by which it decides to enter rooms for surgery making resection of macroscopic lesion of grayish look, highly vascularized, similar to the brain tissue with easy bleeding and very difficult to control. 72 hours after requires new surgical intervention for hemodynamic instability during the postoperative period finding similar lesion characteristics, samples are sent to Pathology reporting final pathological diagnosis: tumor atypical Teratoid Rhabdoid WHO grade IV by OMS.
Subject(s)
Humans , Female , Infant , Central Nervous System Neoplasms , Teratoma , Rhabdoid Tumor/surgery , Rhabdoid Tumor/diagnosis , Colombia , Diagnostic Imaging/methods , HemorrhageABSTRACT
Atypical teratoid/rhabdoid tumor (ATRT) is a rare and aggressive type of embryonal tumor of the central nervous system (CNS) occurring in childhood. The present study aims to describe the case of a 16-year-old girl who presented with an occipital mass lesion that was diagnosed as ATRT.We present a brief review of the current knowledge of the treatment of this rare neoplasm. A previously healthy 16-year-old girl was referred after two episodes of partial complex seizure 2 weeks before admission. MRI showed a right parieto-occipital lesion with homogeneous contrast-enhancing and significant surrounding brain edema. The patient underwent uneventful surgical resection of the lesion and was discharged home on the fifth postoperative day. Pathologic examination revealed it to be ATRT. The patient was referred to chemotherapy and radiotherapy. After 6 months of follow-up, the patient remains free of seizure and disease progression. ATRT is a rare and aggressive disease. Therefore, early diagnosis and treatment may improve the patient's prognosis and quality of life.
O tumor teratoide rabdoide atípico (TTRA) é um tipo de neoplasia rara, com comportamento maligno, que atinge o sistema nervoso central (SNC) de crianças. O objetivo do presente estudo é relatar o caso de uma paciente de 16 anos de idade admitida no nosso serviço com uma lesão occipital que revelou tratar-se de TTRA em estudo anatomopatológico. Uma paciente previamente hígida foi admitida no nosso serviço referindo ocorrência de dois episódios de crises convulsivas nas últimas 2 semanas. A ressonância magnética de crânio mostrou a presença de lesão occipital direita com captação homogênea do meio de contraste. A paciente foi submetida a cirurgia de ressecção da lesão expansiva sem intercorrências. A análise histopatológica e imuno-histoquímica revelou tratar-se de TTRA. A paciente foi encaminhada para a realização de quimioterapia e radioterapia complementares ao tratamento cirúrgico. Após 6 meses de seguimento ambulatorial, a paciente encontra-se assintomática, sem recorrência das crises convulsivas e/ou progressão radiológica da doença. TTRA é uma doença rara e agressiva. Com isso, diagnóstico e tratamento antecipados podem aprimorar prognóstico e qualidade de vida dos pacientes.
Subject(s)
Humans , Female , Adolescent , Teratoma/diagnosis , Teratoma/therapy , Brain Neoplasms/physiopathology , Rhabdoid Tumor/diagnosis , Rhabdoid Tumor/therapyABSTRACT
PURPOSE: Malignant rhabdoid tumor (MRT) is a rare and highly aggressive tumor that affects young children. Due to its extreme rarity, most of the available data are based on retrospective case series. To add to the current knowledge of this disease, we reviewed the patients treated for extra-cranial MRT in our institute. MATERIALS AND METHODS: A retrospective medical record review was conducted on children treated for pathologically confirmed extra-cranial MRT at Seoul National University Children's Hospital between January 2003 and May 2013. RESULTS: Eleven patients (7 boys, 4 girls) were diagnosed with extra-cranial MRT at a median age of 9 months old. INI1 staining was important in the pathological confirmation. Six patients (55%) had renal MRT and five (45%) had soft tissue MRT. Five patients (45%) had metastases at diagnosis. All patients underwent chemotherapy, eight patients (73%) underwent surgery, six patients (55%) received therapeutic radiotherapy, and four patients (36%) underwent high dose chemotherapy with autologous stem cell rescue (HDCT/ASCR) with melphalan, etoposide, and carboplatin. Five patients (45%) died of disease following progression (n=3) or relapse (n=2), however, there was no treatment related mortality. The overall survival of the cohort was 53.0% and the event-free survival was 54.5% with a median follow-up duration of 17.8 months (range, 2.3 to 112.3 months). CONCLUSION: Extra-cranial MRT is still a highly aggressive tumor in young children. However, the improved survival of our cohort is promising and HDCT/ASCR with melphalan, etoposide, and carboplatin may be a promising treatment option.
Subject(s)
Child , Humans , Carboplatin , Cohort Studies , Diagnosis , Disease-Free Survival , Drug Therapy , Etoposide , Follow-Up Studies , Kidney Neoplasms , Medical Records , Melphalan , Mortality , Neoplasm Metastasis , Radiotherapy , Recurrence , Retrospective Studies , Rhabdoid Tumor , Seoul , Soft Tissue Neoplasms , Stem CellsABSTRACT
Objective:To analyze the clinico-pathological characteristics, pathological diagnosis, and treatment of rhabdoid tu-mor. Methods:The medical records of four rhabdoid tumor patients that were admitted to the Tianjin Medical University Cancer Insti-tute and Hospital since 2000 were analyzed based on existing literature. Results:In one of the four cases, the tumor originated from the kidney, whereas in the other three, the tumor occurred from extra-renal soft tissues. Histologic analysis revealed that the tumor cells were loosely arranged with diffuse growth, vesicular nuclei, dyed cytoplasm, visible eosinophilic inclusions, and more nuclear fission. The results of immunohistochemical staining showed that the vimentin and epithelial membrane antigen were positive, whereas CK, CD99, CD34, and S-100 were positive at different degrees. MyoD1, Desmin, and INI-1 were negative. Conclusion:Rhabdoid tumor is rare and highly aggressive. It occurs mainly in the kidney and can also be found in other systems. The unique pathological form and im-munohistochemical staining observed on the tumor can be used as reference for diagnosis.
ABSTRACT
Large cell carcinoma with a rhabdoid phenotype is very rare. We report the case of a 53-year-old man who presented with multiple nodules on the scalp, face, and trunk. A skin biopsy revealed large cell carcinoma with a rhabdoid phenotype throughout the dermis. Tumor cells had abundant cytoplasm, eccentric nuclei, and prominent nucleoli and did not adhere to each other. Immunohistochemical tests showed positive reactions for vimentin, epithelial membrane antigen (EMA), and thyroid transcription factor-1 (TTF-1) and weakly focal reactions for pan-CK, CK7, and p63. Imaging studies and a percutaneous lung biopsy were performed and the results were consistent with a large cell lung carcinoma with a rhabdoid phenotype. Based on these clinical and histopathological findings, we concluded that his condition was a cutaneous metastasis from a large cell lung carcinoma with a rhabdoid phenotype, which occurs very rarely.
Subject(s)
Humans , Middle Aged , Biopsy , Carcinoma, Large Cell , Cytoplasm , Dermis , Lung , Mucin-1 , Neoplasm Metastasis , Phenotype , Rhabdoid Tumor , Scalp , Skin , Thyroid Gland , VimentinABSTRACT
We report a very rare case of sellar and suprasellar atypical teratoid rhabdoid tumor (ATRT) in a 42-year-old female patient. The tumor was removed subtotally with a transsphenoidal approach. Histopathologic study showed rhabdoid cells with prominent nucleoli and abundant cytoplasm. Immunohistochemistry for INI1 was completely negative in the tumor cells, consistent with ATRT. After surgery, she received radiotherapy including spinal irradiation with proton beam therapy and subsequent chemotherapy, with no evidence of recurrence for more than 2 years. Up to date, this is the 8th case of an adult-onset ATRT in the sellar or suprasellar region. Despite its rarity, ATRTs should be considered in the differential diagnosis of an unclear malignant sellar or suprasellar lesion in adult patients and the treatment strategies for adult ATRT patients could be differentiated from those of pediatric ATRT patients.
Subject(s)
Adult , Female , Humans , Cytoplasm , Diagnosis, Differential , Drug Therapy , Immunohistochemistry , Proton Therapy , Radiotherapy , Recurrence , Rhabdoid TumorABSTRACT
Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The majority of ATRT cases display genetic alterations of SMARCB1 (INI1/hSNF5), a tumor suppressor gene located on 22q11.2. The coexistence of a CNS ATRT in a child with a r(22) is rare. We present a case of a 4-month-old boy with 46,XY,r(22)(p13q13.3), generalized hypotonia and delayed development. High-resolution microarray analysis revealed a 3.5-Mb deletion at 22q13.31q13.33. At 11 months, the patient had an ATRT (5.6 cmx5.0 cmx7.6 cm) in the cerebellar vermis, which was detected in the brain via magnetic resonance imaging.
Subject(s)
Child , Humans , Infant , Male , Brain , Brain Neoplasms , Central Nervous System , Genes, Tumor Suppressor , Magnetic Resonance Imaging , Microarray Analysis , Muscle Hypotonia , Phenotype , Rhabdoid Tumor , Ring ChromosomesABSTRACT
Malignant rhabdoid tumor was first discovered in the kidney, and rhabdoid tumor of the lung was first reported in 1995. These were included as the variants of large-cell carcinoma, according to the 1999 World Health Organization classification of lung tumors. The rhabdoid tumor of the lung exhibits aggressive biological behavior and has a poor prognosis, and only a few reports of this tumor exist. We report a case of lung carcinoma with a rhabdoid phenotype, initially misdiagnosed as an aspergilloma, in a 48-year-old man who presented with recurrent hemoptysis. The chest computed tomography scans showed a huge consolidative lesion with an air crescent sign in the left upper lung and no contrast-enhancing lesion. An aspergilloma was diagnosed by the radiologist. However, after surgical excision and pathological examination, rhabdoid carcinoma was diagnosed. A surgical resection helps to make it possible to pathologically distinguish a malignancy from an aspergilloma.
Subject(s)
Humans , Middle Aged , Aspergillosis , Classification , Hemoptysis , Kidney , Lung , Phenotype , Prognosis , Rhabdoid Tumor , Thorax , World Health OrganizationABSTRACT
Malignant rhabdoid tumor was first discovered in the kidney, and rhabdoid tumor of the lung was first reported in 1995. These were included as the variants of large-cell carcinoma, according to the 1999 World Health Organization classification of lung tumors. The rhabdoid tumor of the lung exhibits aggressive biological behavior and has a poor prognosis, and only a few reports of this tumor exist. We report a case of lung carcinoma with a rhabdoid phenotype, initially misdiagnosed as an aspergilloma, in a 48-year-old man who presented with recurrent hemoptysis. The chest computed tomography scans showed a huge consolidative lesion with an air crescent sign in the left upper lung and no contrast-enhancing lesion. An aspergilloma was diagnosed by the radiologist. However, after surgical excision and pathological examination, rhabdoid carcinoma was diagnosed. A surgical resection helps to make it possible to pathologically distinguish a malignancy from an aspergilloma.
Subject(s)
Humans , Middle Aged , Aspergillosis , Classification , Hemoptysis , Kidney , Lung , Phenotype , Prognosis , Rhabdoid Tumor , Thorax , World Health OrganizationABSTRACT
Rhabdoid tumor of the kidney (RTK) is a rare malignancy in infancy. Central nervous system involvement in RTK is already known. However, solitary spinal metastasis in RTK has been hardly reported. The authors report a case of metastatic RTK to spine causing paraplegia in an 8-month-old girl. Since the patient was young, the diagnosis of spine metastasis was delayed until paraplegia was seen after radical nephrectomy. Thorough neurological examination should be performed for early diagnosis of spinal metastasis in young patients with RTK. If there are any abnormal signs in neurologic examination, magnetic resonance images of brain and spine are recommended.