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PubMed2003

Well differentiated fetal adenocarcinoma of the lung in a 29 year old woman.

This report describes a case of well differentiated fetal adenocarcinoma of the lung in a 29 year old female smoker. The histological pattern and immunohistochemical profile were consistent with well differentiated fetal adenocarcinoma and the patient made an uneventful postoperative recovery with no recurrence after 18 months. This neoplasm is a rare lung tumour that is composed of glycogen rich neoplastic glands and tubules that resembles fetal lung at 10 to 15 weeks of gestation. It is important to identify this rare variant of adenocarcinoma because it is a low grade malignancy with low associated mortality.

Adenocarcinoma↗
PubMed2005

Prevalence of BRCA mutations and founder effect in high-risk Hispanic families.

UNLABELLED: Approximately 12% of the U.S. population is Hispanic, with the majority residing in urban centers such as Los Angeles. The prevalence of BRCA mutations among high-risk Hispanic families is unknown. METHODS: One hundred and ten unrelated probands of Hispanic origin, with a personal or family history of breast and/or ovarian cancer, presented for genetic cancer risk assessment, were enrolled in an Institutional Review Board-approved registry and underwent BRCA testing. Haplotype analyses were done if BRCA mutations were observed in two or more unrelated probands. RESULTS: Mean age at diagnosis was 37 years (range = 23-59) for the 89 (81%) probands with invasive breast cancer. Overall, 34 (30.9%) had deleterious mutations (25 in BRCA1, 9 in BRCA2), 25 (22.7%) had one or more unclassified variants, and 51 (46.4%) had negative results. The mean pretest mutation probability using the Couch model, Myriad model, and BRCAPro was 19.6% (range = 4-77%). The combined average mutation probability was 32.8% for carriers, 15.5% for noncarriers, and 12.9% for variant carriers (P < 0.0001). The most common deleterious mutation was 185delAG (4 of 34, 11.8%). The Hispanic 185delAG carrier families share the same haplotype from D17s1320 through BRCA1, as do two reference Ashkenazi Jewish families. Haplotype analyses of additional recurrent BRCA1 mutations [IVS5+1G>A (n=2),S955X (n = 3), R1443X (n = 3), and 2552delC (n = 2)] also suggest founder effects, with four of six mutations seen almost exclusively in families with Latin American/Caribbean or Spanish ancestry. CONCLUSION: This is the largest study to date of high-risk Hispanic families in the United States. Six recurrent mutations accounted for 47% (16 of 34) of the deleterious mutations in this cohort. The BRCA1185delAG mutation was prevalent (3.6%) in this clinic-based cohort of predominantly Mexican descent, and shared the Ashkenazi Jewish founder haplotype.

Adult↗
PubMed2000

[Pituitary adenomas: value of MR imaging].

MR imaging has become the imaging modality of choice for diagnosis of pituitary adenomas. In order to optimize MR evaluation, dedicated pulse sequences must be utilized and knowledge of diagnostic pitfalls and normal variants is mandatory. The MRI features of pituitary adenomas may vary based on their volume, but also on their cell-type. Postoperative MR imaging based on a pre-established schedule is useful to detect residual and/or early recurrent tumor.

Adenoma↗
PubMed1987

[Endometrial carcinoma and their precursors].

Endometrial carcinoma is significantly linked to the excess of exogenous and endogenous estrogens, non-tempered by progesterone. It is the second cancer in women after breast cancer. It is still detected with difficulty at the pre-invasive stage. Evaluation of its histological grade during the diagnosis (aspiration, curettage) influences the treatment. Grade I (80 p. cent of the cases) includes common carcinomas and their mucinous variants, with malpighian metaplasia, cytologically benign. Grade II concerns poorly differentiated carcinomas. Grade III concerns adeno squamous, anaplastic, seropapillar and clear cells carcinomas. The invasive stage, established on the operative specimen, represent the main prognostic factor. The risks of recurrence or metastases are practically non-existent when the carcinoma is localized to the endometrium, very low if the carcinoma invades a few mm of the myometrium, moderate if the medial half is involved, much higher if the invasion exceeds half of the thickness of the myometrium and/or involves the cervix.

Adenocarcinoma↗
PubMed1982

Desmoplastic malignant melanoma of the upper eyelid.

Desmoplastic melanoma is a rare and unusual variant of malignant melanoma. Its occurrence has not been previously reported in the ophthalmological literature, nor has an occurrence previously been shown to arise from mucosal melanosis. A case is reported of a patient who appeared to have a recurrent chalazion. The clinician should be alert to this entity when evaluating nodular eyelid lesions especially in the presence of acquired melanosis.

Cysts↗
PubMed2005

Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14).

A 14-year-old boy was referred for a genetics evaluation after high-resolution chromosome analysis showed a small amount of extra material in the proximal long arm of chromosome 21. Five years prior, his karyotype analysis was interpreted as normal with a variant chromosome 21. The patient has short palpebral fissures, strabismus, flat antihelices of the ears, long thumbs with bilaterally absent interphalangeal creases, proximal bilateral 3/4 syndactyly, small testes, hypotonia, mental retardation, and speech problems. He has significant depression and behavioral problems including hyperactivity, aggression, and impulsivity. His 8-year-old brother has more severe behavioral disturbances and depression, but less significant mental retardation. A paternal aunt has mental retardation, is unusually docile, and appears similar to our patient. Chromosome analysis and fluorescence in situ hybridization (FISH) whole chromosome paint of chromosome 21 showed that the patient's father carries a "cryptic" balanced translocation, 46,XY, t(14;21)(q11.2;q11.2), as does the patient's paternal grandmother. Uniparental disomy studies using seven informative polymorphic nucleotide repeat markers from 14q and 21q confirmed biparental inheritance of the number 14 and 21 chromosomes for each brother, and indicate that they and the paternal aunt, all of whom inherited the der(14), are monosomic for proximal 21q and trisomic for proximal 14q. These karyotypes arose through an adjacent-2 segregation in the father on two occasions, and from the paternal grandmother on one occasion. This family is an example of recurrent malsegregation with translocations involving the acrocentrics.

Adult↗
PubMed2004

Dermatofibrosarcoma protuberans: a clinicopathological analysis of 10 cases in Asians.

Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive cutaneous neoplasm that exhibits a marked tendency for recurrence after local excision. This case series aims to study the clinical, histological and immunohistochemical features of DFSP in Asians. Ten patients with DFSP diagnosed between 1992 and 2001 were reviewed. There were more women than men in a ratio of 4:1. There were six Chinese, two Malays, one Indian and one Eurasian. The mean age was 38 years. The duration of each lesion before excision varied from 6 months to 27 years. Fifty per cent of tumours occurred on the trunk. On histology, all the lesions were dermal-centred spindle cell tumours, extending to the subcutis, and exhibited the characteristic storiform pattern. One tumour also demonstrated fibrosarcomatous changes. Two tumours were of the rare pigmented variant (Bednar tumour). Immunohistochemistry with CD34 was positive in all cases, except the fibrosarcomatous area of one tumour, which was negative for CD34. For comparison, six cases of deep-penetrating dermatofibroma were stained for CD34 and all showed an absence of CD34 expression. Wide excision of the tumour was performed in all cases of DFSP. There was no recurrence after mean follow up of 6 years (range 2.25-9.5 years).

Adolescent↗
PubMed1995

Tunnel restorations: a long-term pilot study over a minimum of five years.

OBJECTIVES: The purpose of this study was to investigate the long-term performance of tunnel restorations. METHODS: Thirty-three glass polyalkenoate (ionomer) or cermet restorations were placed in the premolar or first molar teeth of 25 patients. Conservative amalgam control restorations were the means of treatment in 14 similar teeth of the same group. Review as to performance consisted of a regular clinical and radiographic examination and the criteria for failure were recurrent caries, fracture of the marginal ridge or gross loss of restorative material. RESULTS: After 3 years all types of restoration were satisfactory. By approximately 5 years one-quarter of the glass ionomer and 10% of the cermet restorations had failed. All the failures after any period of service could be replaced by conservative amalgam fillings. None of the controls required replacement. CONCLUSION: While tunnel restorations employing glass ionomer material and the cermet variant do enjoy a degree of success, this preliminary work suggests that small restorations of dental amalgam are more successful in the long term.

Adult↗
PubMed2006

Systemic therapy in metastatic or recurrent endometrial cancer.

Endometrial cancer is one of the most common gynecologic malignancies. In patients with advanced or recurrent endometrial cancer survival is greatly diminished. Hormonal therapy and chemotherapy play a major role in the management of advanced or recurrent endometrial cancer. Endocrine therapy provides a 10-20% response rate (RR) and survival of less than 1 year. Combination chemotherapy offers a RR of 40-60%, but the survival is still less than 1 year. The combination of cisplatin plus doxorubicin is the most commonly used regimen, but carboplatin plus paclitaxel represents an efficacious, low toxicity regimen in advanced or recurrent endometrial cancer. The addition of paclitaxel to cisplatin plus doxorubicin appears to improve response rates, progression-free survival and overall survival, but to worsen toxicity profile. At this time the focus of future research should be on the use of novel targeted agents, since it is unlikely that further significant advances could be made with chemotherapy and endocrine therapy. mTOR inhibitors represent a promising therapeutic strategy for endometrial cancer. Anti-HER-2/neu targeted therapy might be a novel and attractive therapeutic option in patients with biologically aggressive variants (uterine serous papillary carcinoma, clear cell carcinoma) of endometrial cancer. Research in better understanding the signal transduction pathways in endometrial carcinogenesis will allow the development of specific and selective molecularly targeted inhibitors.

Adenocarcinoma↗
PubMed2001

Androgen receptor alterations in prostate cancer relapsed during a combined androgen blockade by orchiectomy and bicalutamide.

Mechanisms of prostate cancer (CaP) recurrence during a combined androgen blockade (CAB) are poorly understood. Previously, the role of androgen receptor (AR) gene mutations underlying the CAB therapy relapse has been raised. To investigate the hypothesis that AR gene aberrations are involved in CAB relapse, 11 locally recurrent CaP samples from patients treated with orchiectomy and bicalutamide were analyzed for copy number changes and DNA sequence alterations of the AR gene by fluorescence in situ hybridization and single-strand conformation polymorphism, respectively. Altogether, base changes were detected in four tumors (36%). Three of them were missense mutations (G166S, W741C, M749I) and two were silent polymorphisms. Interestingly, none of the tumors had AR amplification. These data suggest that different AR variants are developed and selected for during various types of hormonal treatments, and also, that CAB achieved by orchiectomy and bicalutamide does not act as a selective force for AR amplification.

Androgen Antagonists↗
PubMedDate not supplied

[5 episodes of transient aplastic anemia in 3 patients].

We report five episodes of severe aplastic anemia (AA) followed by spontaneous remission in three patients. They were classified as transient aplastic anemia (TAA). Two were females and one male of 32, 56 and 41 years of age, respectively; the man had two recurrences. They had been in contact with insecticides, solvents or drug ingestion. The three had fever, anemia and muco-cutaneous purpura. Supportive measures were used (transfusion of packed red blood cells and platelets, antibiotics, corticosteroids and danazol, the latter two given for ten days in three episodes). They showed spontaneous remission after 16 to 45 days of evolution. The patients did not suffer infection or myeloproliferative disorders which might explain the AA. Transient AA is infrequent and should be considered a variant of AA.

Adult↗
PubMed2001

Hereditary angioedema: a broad review for clinicians.

Hereditary angioedema (HAE) is an autosomal dominant disease that afflicts 1 in 10,000 to 1 in 150,000 persons; HAE has been reported in all races, and no sex predominance has been found. It manifests as recurrent attacks of intense, massive, localized edema without concomitant pruritus, often resulting from one of several known triggers. However, attacks can occur in the absence of any identifiable initiating event. Historically, 2 types of HAE have been described. However, a variant, possibly X-linked, inherited angioedema has recently been described, and tentatively it has been named "type 3" HAE. Signs and symptoms are identical in all types of HAE. Skin and visceral organs may be involved by the typically massive local edema. The most commonly involved viscera are the respiratory and gastrointestinal systems. Involvement of the upper airways can result in severe life-threatening symptoms, including the risk of asphyxiation, unless appropriate interventions are taken. Quantitative and functional analyses of C1 esterase inhibitor and complement components C4 and C1q should be performed when HAE is suspected. Acute exacerbations of the disease should be treated with intravenous purified C1 esterase inhibitor concentrate, where available. Intravenous administration of fresh frozen plasma is also useful in acute HAE; however, it occasionally exacerbates symptoms. Corticosteroids, antihistamines, and epinephrine can be useful adjuncts but typically are not efficacious in aborting acute attacks. Prophylactic management involves long-term use of attenuated androgens or antifibrinolytic agents. Clinicians should keep this disorder in their differential diagnosis of unexplained, episodic cutaneous angioedema or abdominal pain.

Acute Disease↗
PubMed1992

Aneurysmal bone cyst. A clinicopathologic study of 238 cases.

Aneurysmal bone cyst (ABC) is a nonneoplastic expansile bone lesion that mainly affects children and young adults. Primary ABC is relatively rare, with an incidence one half that of giant cell tumor of bone. In 238 patients with ABC studied in the Mayo Clinic files, more than 80% of the lesions were in long bones, flat bones, or the spinal column. Of the lesions initially treated at the Mayo Clinic, 95% were typical ABC; the rest were "solid" variants. Except for the absence of obvious cavernous channels and spaces, there was no significant histologic difference between solid variant and typical ABC. Radiographically, ABC is an eccentric expansile lesion commonly located at the metaphysis of long bones. Computed tomography and magnetic resonance imaging may show multiple internal septations or fluid levels. In the 153 patients treated, 19% had recurrence after curettage (intralesional excision). Recurrence was most common during the first 2 postoperative years.

Adolescent↗
PubMed1998

Inherited risk factors for thrombophilia in children with nephrotic syndrome.

UNLABELLED: A hereditary tendency to venous thrombosis rarely results in a spontaneous thrombotic episode before puberty. The acquired hypercoagulability associated with nephrotic syndrome (NS) could, however, coincide with underlying inherited thrombophilia, thereby resulting in a thrombotic event. In order to determine the contribution of inherited prothrombotic conditions to thrombosis in children with NS, we analysed DNA from a cohort of patients with NS for the common genetic risk factors of vascular disease. We evaluated 53 children with NS and 41 paediatric controls for prevalence of the factor V mutation Arg506-->Gln (factor V Leiden), the prothrombin variant (20210G-->A), and homozygosity for Ala677-->Val in the methylenetetrahydrofolate reductase gene (MTHFR). Eight thrombo-embolic events were identified in 6 out of 53 (11%) children. Three thrombotic events occurred during NS activity and were associated with systemic infections in two and an arterial puncture in one. An inherited risk factor was identified in seven children, all without thrombosis (two heterozygous for the prothrombin variant and five homozygous for the MTHFR-T). None of the studied inherited risk factors were identified among those with thrombosis. CONCLUSIONS: These data suggest that inherited thrombophilia is not a strong risk factor for the development of non recurrent thrombosis in children with NS.

Adolescent↗