Autopsy findings in cases with a clinically uncertain cancer diagnosis

Analysis of the post mortem and clinical evaluation of the underlying cause of death in 471 cancer patients showed that doubt in the clinical situation occurred in approximately one case in four. Doubt was of three kinds, that as to the site of origin of the cancer, that related to lack of morphological confirmation and that as to the aetiology of the disease process. In most cases in the first two groups the decision not to resolve the doubt until post mortem was made clinically. The majority of the others were admitted too late for the doubt to be resolved before death.     

Fine-needle aspiration of renal angiomyolipoma: cytological findings and diagnostic pitfalls in a series of five cases

Diagnosis of renal angiomyolipoma (AML) by fine-needle aspiration (FNA) may be difficult because cytological and radiological findings sometimes overlap with renal cell carcinoma (RCC) and liposarcoma. Five FNAs of AMLs were studied. Epithelioid and spindle stromal cells were arranged in loosely cohesive clusters and singly. The chromatin was evenly distributed and bland. Occasionally nuclear atypia was identified. Nuclei were oval to elongated, nucleoli were inconspicuous or absent, naked nuclei were present in three specimens, and intranuclear inclusions were present in two specimens. The cytoplasm was delicate and sometimes finely vacuolated. Adipose tissue was observed in two specimens. Thick-walled vessels, mitoses, and necrosis were absent. Corresponding surgical material showed typical features of AML. In FNA, bland chromatin and inconspicuous nucleoli distinguish renal AML from RCC and liposarcoma. Adipose tissue is not universally present. Cellular atypia in conjunction with overlapping radiological findings with RCC and liposarcoma are potential diagnostic pitfalls. Immunocytochemical (ICC) stains may elucidate the correct diagnosis.     

Autopsy findings in AIDS — A histopathological analysis of fifty cases

Summary Fifty consecutive AIDS autopsy cases were evaluated. All subjects showed one or more opportunistic infections and malignancies included in the AIDS case definition with cytomegalovirus and Kaposi's sarcoma being most prevalent. Mycobacterial and cryptococcal infections occurred only infrequently. Most patients of our series after successful treatment ofPneumocystis carinii pneumonia or cerebral toxoplasmosis later succumbed to less treatable conditions like disseminated cytomegalovirus or fungal infections or malignant lymphoma. In the absence of specific treatment for the HIV infection leading to these lethal complications special emphasis must be put on the prevention of HIV transmission and spread.Abbreviations AIDS Acquired immune deficiency syndrome - CDC Centers for Disease Control - CMV Cytomegalovirus - CNS Central nervous system - HIV Human immunodeficiency virus - KS Kaposi's sarcoma - ML Malignant lymphoma - PCP Pneumocystis carinii pneumonia     

Autopsy findings in AIDS patients from a reference hospital in Brazil: analysis of 92 cases

The aim of this work was to evaluate the opportunistic diseases and the cause of death of AIDS patients who were submitted to autopsy.

We included all AIDS patients submitted to autopsy at a reference hospital of a medical school in São Paulo, Brazil, during the period of 1993 to 2000.

Out of 1,478 autopsy cases in this period, 92 patients (6.22%) had the previously confirmed diagnosis of AIDS. Sixty-nine patients (75%) were men ranging in age from 19 to 68 years (mean 34.8). Eighty-five patients (92.4%) died due to infectious diseases, while only two died of neoplasia. Forty-four (48%) patients died from pulmonary infection, 14 (15%) from sepsis, 14 (15%) from disseminated mycobacteriosis, and six (7%) from Central Nervous System (CNS) infection. The opportunistic diseases found were mycobacteriosis (n = 25), Pneumocystis carinii infection (n = 16), Cytomegalovirus infection (n = 17), toxoplasmosis (8 CNS cases), candida sp infection (n = 12), histoplasmosis (n= 5), cryptococcus (n = 4), and one case of blastomycosis in the lung.

Most of our AIDS patients are dying of infectious and opportunistic diseases that are not always diagnosed during their lifetime.     

Congenital vascular malformations: a series of five prenatally diagnosed cases

In the literature there are single case reports of mediastinal/chest and limb combined vascular malformations (previously labeled "hemangiolymphangiomas"). A variable outcome in such prenatally diagnosed cases is reported. Presented here is the only series of patients reported with these macrocystic, predominantly lymphatic malformations. Prenatal ultrasound scan and post-mortem examination findings are described. In our experience the outcome has been poor and this highlights the dilemma faced by clinicians and parents when these lesions are diagnosed prenatally. We present a series of five, prenatally diagnosed vascular (combined vascular malformations and simple localized lymphatic malformations) malformations. Three cases had lower leg involvement with extension into the abdomen and two cases had lymphatic malformations of the chest wall with involvement of the upper limb(s). Management of a twin pregnancy, in which one twin was affected, is described. In two cases, termination of pregnancy was undertaken because of the extensive nature of the lesion. One case died in utero and one in the neonatal period. The fifth case is an 11-year-old boy, whose lower limb deformity illustrates the considerable morbidity associated with this condition.     

Autopsy findings in bone marrow transplantation

Autopsies were performed on 2 patients with aplastic anaemia and 7 with acute leukaemia dying after bone marrow transplantation. Neutropenic enterocolitis was found in 2 of the 3 early deaths occurring before marrow engraftment and was related to radiation or cytotoxic drug damage to the bowel mucosa in the presence of profound neutropenia, allowing infection by bowel organisms. Cytomegaloviral infection was universal in engrafted patients. One had cytomegaloviral (CMV) pneumonia, one CMV hepatitis and enteritis and one CMV enteritis. Three patients had occasional CMV inclusions in various organs without obvious harmful effects. One nonengrafted patient also had CMV pneumonia. Graft versus host disease (GVHD) was a significant finding in 4 engrafted patients. This was difficult to separate histologically from the effects of CMV in the bowel, but easier in liver and skin. The skin changes of GVHD were the most easily interpretable. Interstitial pneumonia was due to CMV in one nonengrafted and one engrafted patients and had no obvious infective cause in 2 engrafted patients. The presence of bizarre epithelial cells in the lungs of these patients suggested an aetiological role for radiation or cytotoxic drugs. Modification of the conditioning regimen may reduce tissue damage and lessen many of these side-effects.     

Autopsy findings in a Japanese patient with acquired immunodeficiency syndrome

A 37-year-old Japanese man was diagnosed as having acquired immunodeficiency syndrome (AIDS) on the basis of a homosexual history, generalized lymphadenopathy, marked decrease of helper/inducer T cells in the peripheral blood, and positive serum antibody (antibodies) against human immunodeficiency virus (human T-lymphotropic virus type III/lymphadenopathy-associated virus). Autopsy showed severe depletion of lymphocytes in the lymphoid organs including the systemic lymph nodes, spleen, and gut-associated lymphoid tissue. Pneumocystis carinii pneumonia and adrenal cytomegalovirus infection ('necrotizing adrenalitis') were identified, but there was no neoplasm. Postmortem findings in AIDS were reviewed in the literature.     

Light and electron microscopic findings in five cases of cryoglobulinemic glomerulonephritis

Summary Renal tissue from five patients with cryoglobulinemia was studied by light and electron microscopy and immunofluorescence. None of the histologic features observed at the light microscopic level seems to be specific for cryoglobulinemia. Electron microscopic investigations have shown very large electron dense deposits in almost every examined lobule in all cases. The deposits displayed two main patterns; a homogeneous texture in two cases and tubular or annular structures in three cases. The patients with typically structured deposits had IgG-IgM cryoglobulinemia (2 cases) or monoclonal IgM cryoglobulinemia (1 case). The presence of IgM in cryoglobulinemia may be the cause of the peculiar structure of the deposits.     

RASA1 analysis: clinical and molecular findings in a series of consecutive cases

RASA1 mutations have been reported to be associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM), arteriovenous fistulas (AVF), or Parkes Weber syndrome. But the number of cases with RASA1 mutations reported to date is relatively small and the spectrum of phenotypes caused by mutations in this gene is not well defined. Mutation results and clinical findings in thirty-five unrelated consecutive cases sent for RASA1 molecular sequencing testing at ARUP Laboratories within the last two years were evaluated. Eight individuals had a pathogenic RASA1 mutation of which six were novel. These eight individuals all had CMs (seven had multifocal CMs; one had multiple CMs), and six also had a brain or facial AVM. Two individuals with multifocal CMs including one with a fast flow lesion had a variant of uncertain significance. All other individuals, including sixteen with CMs and one with a vein of Galen aneurysm, tested negative for a RASA1 mutation. Our data suggest that multifocal CM is the key clinical finding to suggest a RASA1 mutation. The clinical diagnostic mutation detection rate among all samples sent for RASA1 testing was 29% (10/35) which increases to approximately 39% (10/26) if patients without CMs are excluded.