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Gino R Somers

Publications and source records attributed to Gino R Somers.

16 recordsLinked to original sources
PubMed2006

Pediatric undifferentiated sarcoma of the soft tissues: a clinicopathologic study.

Pediatric undifferentiated soft tissue sarcomas represent a major challenge for pathologists and clinicians. The goal of this study was to identify cases that warranted this diagnosis by current standards of analysis and then determine if there are clinicopathological commonalities that may be useful for diagnosis, management, and prognosis. Eighteen potential patients were identified using the institutional pathology database. Three cases were reclassified as specific sarcomas, and 2 cases had insufficient material for molecular analysis, leaving 13 cases for pathological review and 12 patients for radiological and clinical review. There were 7 males and 6 females. The median age at diagnosis was 11 years (1 month to 16 years). Tumors commonly involved the trunk (7 of 13; 54%) and ranged in size from 1.7 to 14.5 cm (mean, 6.7 cm). Eleven patients received ifosfamide/etoposide chemotherapy and 4 received irradiation. Five-year event-free and overall survival (EFS and OS) rates were 54% and 74%, respectively. The predominant histological pattern was round to plump spindled cells forming sheets (9 of 13; 69%) and severe atypia was associated with decreased survival (P = 0.048). Immunohistochemistry showed positivity for vimentin (92%), CD117 (92%), and vascular endothelial growth factor (69%), and 8% to 23% showed focal positivity for epithelial, neural, or myogenic markers. Tumors were uniformly negative for translocations associated with pediatric sarcomas. The presence of certain common morphological and immunohistochemical features in the absence of specific molecular genetic abnormalities allows for a diagnosis of pediatric undifferentiated soft tissue sarcoma; however, whether this group of neoplasms forms a unique category of tumors or a common precursor pathway for a number of different sarcomas awaits further study.

Adolescent↗
PubMed2006

Pediatric drowning: a 20-year review of autopsied cases: II. Pathologic features.

The pathologic findings in autopsies of drowning victims are nonspecific and vary from case to case. However, most reported pathologic series of drowning cases exclude children and do not take into consideration the unique circumstances surrounding bathtub drownings. In addition, the effect of resuscitation on the autopsy findings has not been studied in children. A retrospective review of autopsy records of non-bathtub drownings from a 20-year period (1984-2003) was performed and 63 cases were identified in 45 males and 18 females (age range 9 months to 17 years). The incidence of frothy exudate, pleural effusion, and increased lung weight was 43%, 36%, and 80%, respectively. The incidence of frothy exudate and the combination of all 3 factors was significantly higher in cases with no resuscitation compared with those cases with attempted resuscitation with or without delayed death. As the interval between the drowning episode and autopsy increased, the incidence of frothy exudate decreased significantly. There was no relationship between these findings and the age and sex of the decedent. Other clinical conditions or occult pathologic findings that may have contributed to death were found in 8 cases (13%). The findings highlight the need for thorough clinicopathologic correlation in cases of drowning to accurately interpret the pathologic findings.

Accidents↗
PubMed2006

Sudden unexpected death in infancy and childhood due to undiagnosed neoplasia: an autopsy study.

Sudden unexpected death due to clinically undiagnosed neoplasia in infancy and childhood (SUDNIC) is a rare phenomenon, with only small numbers of cases reported in the literature. In the majority of instances, the tumors involve critical structures within the heart or central nervous system and include gliomas, medulloblastomas, rhabdomyomas, and neoplasms of stromal elements. A 20-year retrospective review of autopsy records from the Hospital for Sick Children, Toronto, was performed (1984-2003, n = 4926), and 7 cases of SUDNIC were identified (0.14%). In addition, 1 case was obtained from the files of the Children's and Women's Health Centre of British Columbia, Vancouver. Diagnoses included 2 cases of acute leukemia (1 myelogenous, 1 lymphoblastic), 2 cases of mediastinal lymphoblastic lymphoma (pre-T cell type), 1 papillary fibroelastoma of the mitral valve prolapsing into and totally occluding the left anterior descending coronary artery, 1 medulloblastoma, 1 Wilms tumor associated with fatal intraperitoneal hemorrhage, and 1 widely disseminated gastric carcinoma. These cases demonstrate that infants and children may have minimal or no symptoms in the presence of significant disease and highlight the need for a thorough autopsy examination in cases of sudden unexpected death in infancy and childhood.

Adolescent↗
PubMed2006

Pediatric drowning: a 20-year review of autopsied cases: III. Bathtub drownings.

Bathtub drownings are a significant cause of mortality in the pediatric population. Infants and preambulatory children are disproportionately affected, and several studies have suggested that preventative campaigns have been ineffective in the prevention of such deaths. To obtain a better understanding of the factors associated with bathtub drownings, a retrospective review of autopsy records over a 20-year period (1984-2003) was performed. Eighteen consecutive cases of bathtub drownings were identified in 8 males and 10 females (ratio, 0.8; P = 0.6374). The age ranged from 6 months to 70 months (mean, 17 months; median, 11 months), and most cases occurred in infants aged 12 months or less (72%). Males tended to be older than females (mean, 23 months versus 11 months; P = 0.1889). Associated factors included inadequate adult supervision (89%), cobathing (39%), the use of infant bath seats (17%), and coexistent medical disorders predisposing the infant or child to the drowning episode (17%). The pathologic findings included a frothy exudate (28%), pleural effusion (28%), and increased lung weight (61%). All toxicologic samples submitted for analysis were negative. The present study highlights the factors associated with bathtub drownings and may aid in the prevention of such deaths in the pediatric population.

Age Distribution↗
PubMed2005

HER2 amplification and overexpression is not present in pediatric osteosarcoma: a tissue microarray study.

The HER2 gene, located on 17q, encodes a 185-kD transmembrane tyrosine kinase receptor. Amplification of this gene with overexpression of the gene product occurs in about 30% of cases of breast cancer and is considered to be a poor prognostic indicator for this tumor. Results for HER2 expression in osteosarcoma are controversial, with some studies reporting up to 61% of positive cases and others reporting only negative results. Further, expression of HER2 is reported to be a favorable prognostic indicator by some groups and unfavorable by others. The present study used tissue microarrays containing 34 samples of osteosarcoma from 18 patients to analyze HER2 expression by immunohistochemistry and gene copy number by chromogenic in situ hybridization. The microarray included 13 pretreatment biopsies, 11 posttreatment resection specimens, and 10 resected metastases and comprised 18 osteoblastic, 6 chondroblastic, 5 fibroblastic, and 5 mixed subtypes. HER2 protein expression was seen in 4 of 34 (12%) tumor samples that originated from 2 of 18 patients (11%). The staining pattern was consistently weak and focal, and immunohistochemical overexpression of the HER2 protein, defined as complete membrane positivity, was never observed. Further, the presence of HER2 gene amplification was not detected in any osteosarcoma by chromogenic in situ hybridization. Therefore, therapies based on antibodies directed against the HER2 protein are unlikely to have much value in the treatment of pediatric osteosarcomas. From a technical standpoint, this study also demonstrates the value of tissue microarrays in screening tumors at the protein and gene levels using conventional light microscopy.

Adolescent↗
PubMed2005

Pediatric drowning: a 20-year review of autopsied cases: I. Demographic features.

Drowning is a significant cause of childhood mortality in the developed world. Males and preschool-aged children are overrepresented in most series of pediatric drowning. To obtain a better understanding of age- and gender-related factors, a retrospective review of autopsy records over a 20-year period (1984-2003) for cases of drowning (exclusive of bathtub drownings) was performed. Sixty-three consecutive cases of drowning were identified in 45 males and 18 females (ratio 2.5; P = 0.0007). The ages ranged from 9 months to 17 years, and most cases occurred in the 0- to 4-year age group (57%). Boys tended to be older than girls (5 years 9 months versus 4 years 4 months; P = 0.2133). Sites of drowning were open water (48%) and pools (44%), with children drowning in open water being significantly older than those drowning in pools (6 years 6 months versus 4 years 6 months; P = 0.0462). Most boys drowned in open water (53%), whereas most girls drowned in pools (50%). Resuscitation was attempted after the drowning episode in 84% of cases, with children aged 4 years or less having significantly higher rates than older children (P = 0.0346). The present study highlights differences in the pattern of drowning according to age and sex and may aid in developing targeted educational and preventative campaigns.

Adolescent↗
PubMed2005

Association of the t(12;22)(q13;q12) EWS/ATF1 rearrangement with polyphenotypic round cell sarcoma of bone: a case report.

The t(12;22)(q13;q12) chromosomal rearrangement results in an EWS/ATF1 fusion transcript and is associated with clear cell sarcoma (CCS). CCS is an uncommon tumor arising in tendons and aponeuroses of the extremities and shows evidence of melanocytic differentiation at the light microscopic, immunohistochemical, and/or ultrastructural level. Only 5 cases have been reported to arise in bone, none of which had molecular confirmation of the diagnosis. The current report describes a 7-year-old girl with a primary round cell sarcoma of the left humerus showing polyphenotypic differentiation on immunohistochemical analysis. Antibodies directed at melanocytic antigens were negative, and there was no evidence of melanocytic differentiation by light microscopy or ultrastructural analysis. Cytogenetic analysis revealed rearrangement of the EWS locus within 22q12. RT-PCR and sequence analysis revealed the presence of a fusion transcript bringing together exon 7 of EWS with exon 5 of ATF1, consistent with a type 2 transcript reported in association with CCS. However, given the lack of morphologic features usually present in CCS, a diagnosis of polyphenotypic round cell sarcoma was made. This tumor thus expands the spectrum of neoplasms associated with the t(12;22)(q13;q12) rearrangement.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2005

Association of drowning and myocarditis in a pediatric population: an autopsy-based study.

CONTEXT: Drowning is a frequent cause of accidental death in childhood, but the association of myocarditis and drowning has only rarely been reported. OBJECTIVE: To report 5 cases of drowning in children with coexistent myocarditis. DESIGN: A retrospective review of autopsy records of patients 0 years to 18 years of age was performed during a 6-year period (1998-2003, total cases reviewed = 1431). RESULTS: Twenty-two drownings were identified, in 14 male and 8 female children. Five patients (23%), 3 female and 2 male children, had coexistent myocarditis. The 5 patients ranged in age from 23 months to 13 years (mean, 7 years 2 months). None of the patients had antecedent symptomatology suggestive of myocarditis. In all patients, the myocarditis was focal mild or moderate, and the inflammatory infiltrate comprised lymphocytes with smaller numbers of neutrophils. All 5 patients had foci of myocyte necrosis. One patient had histologic evidence of myocardial hypertrophy but no evidence of a cardiomyopathy. Microbiologic studies, including culture, immunohistochemistry, polymerase chain reaction, and reverse transcriptase polymerase chain reaction, revealed Mycoplasma pneumoniae DNA in 1 case. CONCLUSIONS: The finding of myocarditis in a significant proportion of drowning victims in this series highlights the importance of a thorough autopsy examination in apparently straightforward cases and has clinicopathologic significance.

Adolescent↗
PubMed2004

Primary subcutaneous primitive neuroectodermal tumor with aggressive behavior and an unusual karyotype: case report.

Primitive neuroectodermal tumor/Ewing sarcoma (PNET/ES) rarely occurs in the skin and subcutaneous tissues. We present a case of a 16-year-old girl with primary cutaneous and subcutaneous PNET/ES of the abdominal wall. Despite wide local excision and chemotherapy, she rapidly developed cranial bone and brain metastases, followed by lung and skeletal metastases, and died shortly thereafter. The recurrent tumor exhibited light microscopic features of a small, round, blue cell tumor with intracytoplasmic glycogen. Immunohistochemical analysis showed positivity for CD99, CD56, S100, and glial fibrillary acid protein, and ultrastructural features included cytoplasmic glycogen and focal complex interdigitating synaptic junction-like cytoplasmic folds. Cytogenetic analysis of the relapsed tumor showed a complex karyotype: 47,XX,i(1)(q10), der(4)t(4;19) (q33 approximately q35;q13.1), + 8,t(15;17)(q24;p11.2 approximately p12),der(19)t (19;20)(q13.1;p11.2),der(22)t(20;22)(q13;q13). Cytogenetic, interphase fluorescence in situ hybridization, and molecular genetic analyses failed to show t(11:22) (q24;q12) or abnormalities of chromosome region 22q12. The clinical behavior and atypical and complex cytogenetic abnormalities exhibited by the tumor in this patient are unusual and represent the most aggressive end of the clinical spectrum of cutaneous and subcutaneous PNET/ES.

Adolescent↗
PubMed2004

Intrascrotal lipoblastoma with a complex karyotype: a case report and review of the literature.

Lipoblastoma is a tumor of adipose tissue that usually occurs in young children. Most lipoblastomas occur on the extremities, trunk, and head and neck, and most have rearrangements of the 8q region. We describe a lipoblastoma in a 12-month-old boy who presented with a rapidly enlarging scrotal mass. Electron microscopy revealed features consistent with immature adipocytes, and cytogenetic analysis revealed the following karyotype: 57,XY,+4,+6,+7,der(8)t(8;12) (q22;q13), +der(8)t(8;12) (q22;q13), +9,+10,+12,-16,+17,+der(18)t(8;18)(q22;q23),+19,+20. Interestingly, the breakpoint on chromosome 12 (q13) is the same as that seen in lipoblastomas. To our knowledge, this is the first reported case of such a complex karyotype in lipoblastoma and adds to the expanding list of karyotypic abnormalities seen in such tumors.

Aneuploidy↗
PubMed2002

Expression of IFI 16 in epithelial cells and lymphoid tissues.

IFI 16 is a member of the HIN-200 protein family named for their haemopoietic expression, interferon-inducibility and nuclear localisation. These proteins have been characterised as transcriptional regulators that modulate the cell cycle. IFI 16 is expressed in some haemopoietic lineages including CD34+ progenitor cells, mature lymphocytes and monocytes, but is absent from granulocytes, erythrocytes and megakaryocytes. We present a wider study of IFI 16 expression in normal human tissues using a monoclonal antibody specifically recognising the C-terminus of IFI 16. As expected, IFI 16 was detected in the nuclei of lymphocytes in the spleen, thymus, lymph node and palatine tonsil, but was also found in epithelial cells in these tissues. Interestingly, IFI 16 protein was also expressed in non-lymphoid tissues including trachea, gastrointestinal tract, skin and testis, but was absent from others including heart and brain. In each tissue, IFI 16 was predominantly expressed in surface epithelial cells and staining was strongest in basal epithelial layers. Therefore, IFI 16 expression is not restricted to cells of the immune system, but is also expressed in epithelial cells. In contrast to the perceived role of HIN-200 proteins as suppressors of cell growth, maximal expression of IFI 16 was in cells with high proliferative potential.

Antibodies, Monoclonal↗
PubMed2002

Evidence for activation of the renin-angiotensin system in the human prostate: increased angiotensin II and reduced AT(1) receptor expression in benign prostatic hyperplasia.

The expression and cellular localization of angiotensin II (Ang II) and AT(1) receptor proteins were examined in the normal human prostate and benign prostatic hyperplasia (BPH) by immunohistochemistry. In the normal prostate, Ang II immunoreactivity was localized to the basal layer of the epithelium and AT(1) receptor immunostaining was found predominantly on stromal smooth muscle and also on vascular smooth muscle of prostatic blood vessels. Ang II immunoreactivity was markedly increased in hyperplastic acini in BPH compared with acini in the normal prostate (normal: 7.4+/-0.2%, n=5 vs. BPH: 22.7+/-1.9%, n=5, p<0.001). However, AT(1) receptor immunoreactivity was significantly decreased in BPH compared with the normal prostate [normal: 16.4+/-2.2%, n=4 vs. BPH: 9.4+/-1.3%, n=5, p<0.05 (p=0.025)]. The present study demonstrates the presence of Ang II peptide in the basal layer of the epithelium and AT(1) receptors on stromal smooth muscle, suggesting that Ang II may mediate paracrine functions on cellular growth and smooth muscle tone in the human prostate. Furthermore, AT(1) receptor down-regulation in BPH may be due to receptor hyperstimulation by increased local levels of Ang II in BPH. These data extend previous findings in support of the novel concept that overactivity of the renin-angiotensin system (RAS) may be involved in the pathophysiology of BPH.

Angiotensin I↗