PubMed Health⌕ Search

Biomedical subjects

J M Lage

Publications and source records attributed to J M Lage.

At least 55 records · Page 3Linked to original sources
PubMed1992

Clonal 6p21 rearrangement is restricted to the mesenchymal component of an endometrial polyp.

Previous cytogenetic analyses revealed t(6;20)(p21;q13) in two endometrial polyps. We karyotyped a large endometrial polyp in which 19 of 25 metaphase cells contained a t(1;6;4)(q21;p21;q13). Subsequent combined immunohistochemical/cytogenetic analysis showed all aberrant metaphase cells to be of mesenchymal derivation, whereas epithelial cells from the polyp were diploid. These studies indicate that rearrangement of chromosome band 6p21 is a characteristic cytogenetic aberration in the stromal component of endometrial polyps.

Aged↗
PubMed1992

Choriocarcinoma following a partial hydatidiform mole: a case report.

Hydatidiform moles are classified as partial or complete by histologic criteria (Am J Obstet Gynecol 131:665-671, 1978 and Am J Obstet Gynecol 132:20-27, 1978). While persistent gestational trophoblastic tumors follow both types, there remains controversy as to whether the malignant extreme of gestational trophoblastic tumors, choriocarcinoma, can follow a partial hydatidiform mole (Am J Obstet Gynecol 127:167-170, 1977 and Arch Gynecol 234:161-166, 1984). In this instance, a 37-year-old woman presented with a partial hydatidiform mole that persisted and was treated with one course of chemotherapy. She attained a remission for 10 months, when a routine follow-up examination revealed an asymptomatic rise in serum beta-human chorionic gonadotropin from baseline to 14,600 mIU/mL. Dilatation and curettage revealed abundant avillous cytotrophoblast and syncytiotrophoblast with marked atypia, diagnostic of choriocarcinoma. Flow cytometry of paraffin blocks of both specimens showed the partial hydatidiform mole to be triploid and the choriocarcinoma diploid. The patient had no evidence of metastatic disease and was successfully treated with multiple-agent chemotherapy.

Choriocarcinoma↗
PubMed1992

Gaucher's disease in the presence of normal glucocerebrosidase activity.

We encountered an infant with clinical and histopathologic features of Gaucher's disease (infantile, type 2) with normal glucocerebrosidase (D-glucosyl-N-acylsphingosine glucohydrolase, E.C.3.2.1.45) activity. Biochemical analysis was performed on leukocytes, cultured skin fibroblasts, and liver. Normal activity of glucocerebrosidase previously has been reported in an older child with juvenile onset (type 3) Gaucher's disease and attributed to a deficiency of a sphingolipid activator protein. These rare cases illustrate and expand our concept of Gaucher's disease and may have both diagnostic and therapeutic implications.

Autopsy↗
PubMed1992

Preoperative serum CA-125 levels in borderline tumors of the ovary.

Preoperative serum CA-125 levels were evaluated in 38 patients who underwent primary surgery for epithelial ovarian tumors of borderline malignancy at the Brigham and Women's Hospital and Massachusetts General Hospital between 1981 and 1990. Surgical staging was Stage I in 25 (66%) patients, Stage II in 2 (5%) patients, Stage III in 10 (26%) patients, and Stage IV in 1 (3%) patient. The mean sizes of mucinous and serous ovarian tumors were 21.9 and 10.3 cm, respectively (P = 0.0002). All 13 patients (100%) with mucinous tumors had Stage I disease, while 12 (50%) of 24 patients with serous tumors were Stage I. Combining all cell types, 10 (40%) of 25 patients with Stage I disease had an elevated preoperative CA-125 level, while 2 (100%) of 2, 9 (90%) of 10, and 1 (100%) of 1 patient with Stage II, III, and IV disease, respectively, had increased preoperative levels. Among patients with serous tumors, 3 (25%) of 12 Stage I patients had an elevated preoperative CA-125 level, while 11 (92%) of 12 Stage II-IV tumors had elevated levels (P less than 0.001). These data suggest that preoperative CA-125 level correlates with stage of disease in patients with serous borderline ovarian tumors.

Adult↗
PubMed1992

A flow cytometric study of 137 fresh hydropic placentas: correlation between types of hydatidiform moles and nuclear DNA ploidy.

Hydropic placentas may be classified by histopathology into hydropic abortus, partial hydatidiform mole, and complete hydatidiform mole. We studied 142 hydropic placentas: 39% were complete hydatidiform moles, 35% partial hydatidiform moles, and 26% hydropic abortuses. Villous vesicle size was predictive of histologic diagnosis. We determined DNA ploidy in 137 cases. Seventy-three percent of hydropic abortuses were diploid and 11% were triploid. Ninety percent of partial moles were triploid or near-triploid; one partial mole was haploid and one diploid. Of the complete moles, 50% were diploid, 43% were tetraploid, 3.6% polyploid, and 1.7% triploid. Partial moles had lower pre-evacuation beta-hCG levels than complete moles. Persistent tumor followed 33% of complete moles and 12% of partial moles. Although the numbers were small, no patient with a diploid, tetraploid, aneuploid, or haploid partial mole developed persistent disease. Among complete moles, the pre-evacuation beta-hCG level was not predictive of persistence (P = .15). Subdividing complete moles by ploidy, we found that tetraploid moles were associated with higher pre-evacuation beta-hCG levels than were diploid moles. However, tetraploidy was not associated with increased persistent tumor among complete moles. Although most partial moles were triploid and most complete moles were diploid or tetraploid, there was wider DNA heterogeneity among molar gestations than previously reported. In this series, DNA ploidy was not an independent predictor of persistence in complete moles.

Adolescent↗
PubMed1992

Assessment of proliferative activity in ovarian neoplasms by flow and static cytometry. Correlation with prognostic features.

We undertook a prospective flow and static cytometric study of proliferative activity in 74 malignant, borderline and benign ovarian neoplasms. Proliferative activity as assessed by S phase fraction (SPF), and immunostaining of tissue sections with Ki-67 antibody was compared with prognostically important clinicopathologic features. Malignant neoplasms had higher median percentage Ki-67 staining (27.6%) than borderline (12.3%) and benign (2.7%) tumors (P less than 0.05). Percentage Ki-67 staining correlated with SPF, DNA index, architectural grade, nucleolar grade, and mitotic count in malignant tumors; with nucleolar grade in benign tumors and with none of these variables in borderline tumors. Similarly, malignant neoplasms had a higher median SPF (11.5%) than borderline (3.4%) and benign (2.9%) neoplasms (P less than 0.05). In malignant neoplasms, SPF correlated with percentage Ki-67 staining, DNA index, age, and stage, but with none of these in borderline or benign neoplasms.

Aged↗
PubMed1992

Adenocarcinoma in situ of the uterine cervix.

OBJECTIVE: To assess the diagnostic accuracy of cervical conization in women with adenocarcinoma in situ and to determine whether a select group of women could be managed by conization alone without hysterectomy. METHODS: We retrospectively reviewed 40 cases of cervical adenocarcinoma in situ diagnosed on cervical conization. RESULTS: Cervical conization revealed adenocarcinoma in situ alone in 15 women. Twenty-five women had adenocarcinoma in situ coexisting with squamous dysplasia (23) or microinvasive squamous cell carcinoma (two). Twenty-two women underwent hysterectomy after cone biopsy. Adenocarcinoma in situ was detected in the hysterectomy specimen in one of 12 women with uninvolved cone margins, versus seven of ten women with involved margins (P = .006); two of these seven women also had foci of invasive adenocarcinoma in the hysterectomy specimen. Conization was the only treatment for 18 selected women with adenocarcinoma in situ and uninvolved margins; all were relapse-free after a median interval of 3 years (range 1.5-5). CONCLUSIONS: Women with cervical adenocarcinoma in situ diagnosed by conization who have positive margins are at high risk of residual adenocarcinoma in situ and moderate risk of occult invasive adenocarcinoma; expectant management is not warranted. However, a cone biopsy with uninvolved margins can reliably guide subsequent therapy. Selected young women who desire preservation of fertility and have uninvolved margins probably can be managed by conization alone, but further study is required to establish the safety of this approach.

Adenocarcinoma↗
PubMed1991

Diagnostic relevance of clonal cytogenetic aberrations in malignant soft-tissue tumors.

BACKGROUND: Malignant soft-tissue tumors often present substantial diagnostic challenges. Chromosome aberrations that might be diagnostic have been identified in some types of soft-tissue tumors, but the overall frequency and diagnostic relevance of these aberrations have not been established. METHODS: We attempted to determine the karyotypes of a series of 62 consecutive, unselected malignant spindle-cell or small round-cell soft-tissue tumors (from 46 adults and 16 children) after direct harvesting of cells or short-term culture. All tumors were examined independently by immunohistochemical staining in addition to routine light-microscopical evaluation, and all but two tumors were examined by electron microscopy. RESULTS: Metaphases were obtained from 61 of the 62 tumors, and clonal chromosome aberrations were identified in 55 (89 percent). In the six tumors that yielded metaphases but lacked apparent clonal aberrations, the normal metaphases were found to originate from non-neoplastic stromal elements within the tumor specimens. Thus, all tumors in which karyotyping was successful contained clonal chromosome aberrations. Forty of 62 tumors (65 percent) contained clonal chromosome aberrations that either suggested or confirmed a specific diagnosis; in 15 of these tumors (24 percent of all tumors), the aberrations were important in establishing the final diagnosis. Cytogenetic analyses were particularly informative about small round-cell tumors from children: 8 of 14 round-cell tumors contained diagnostically important chromosome aberrations. Using the combined approaches of light and electron microscopy, immunohistochemistry, and cytogenetics, we established an unambiguous diagnosis for 60 of 62 tumors. CONCLUSIONS: Cytogenetic analyses reveal clonal chromosome aberrations in virtually all malignant soft-tissue tumors. These clonal chromosome aberrations, particularly in small round-cell tumors in children, often have diagnostic relevance.

Adult↗
PubMed1991

Absence of normal-appearing proximal tubules in the fetal and neonatal kidney: prevalence and significance.

Rare fetuses and neonates with kidneys lacking normal-appearing proximal tubules have been described. In order to ascertain the prevalence of this histologic finding, and to study its associated clinicopathologic features, 500 consecutive perinatal autopsies (performed from 1981 to 1985) were reviewed. Kidneys lacking normal-appearing proximal tubules were found in six of 500 (1.2%) perinatal autopsies (one liveborn and five stillborn cases). The liveborn infant was one of a sibship with renal tubular dysgenesis. Four of the stillborn fetuses were derived from monochorionic twin gestations; the histologic abnormality was present in only one fetus from each twin pair. Three of the four twin pairs had pathologic features suggestive of twin-to-twin transfusion, with the renal abnormality present in the donor twin; renal hypoplasia existed in two instances. The fourth affected twin was a stillborn acardiac fetus with multiple congenital anomalies and unilateral renal agenesis. The fifth stillborn was a hydropic fetus with trisomy 21 and renal hypoplasia. In this series, lack of recognizable renal proximal tubules most often was not a manifestation of renal tubular dysgenesis. The histologic finding was associated with stillborn, renal hypoplasia, and congenital anomalies, and was strongly associated with monochorionic twinning (P = 0.001). In the stillborn cases in this series, we suggest that this finding may represent renal tubular degeneration resulting from renal hypoperfusion.

Diseases in Twins↗
PubMed1991

Placentomegaly with massive hydrops of placental stem villi, diploid DNA content, and fetal omphaloceles: possible association with Beckwith-Wiedemann syndrome.

Marked placental hydrops is generally associated with hydatidiform mole. Diagnosis of hydatidiform mole requires both villous hydrops and trophoblast hyperplasia. This report describes four cases with massive hydrops of placental stem villi without associated trophoblast hyperplasia. All four had diploid DNA content by flow cytometry. Fetal omphalocele was present in three; and one had diagnostic Beckwith-Wiedemann syndrome (BWS). In two others, there were pathologic features suggestive of BWS. The fourth fetus had multiple anomalies by ultrasound; autopsy examination of the fragmented fetus failed to disclose additional pathology. The association of massive placental hydrops involving stem villi, fetal omphalocele, and diploid DNA content is unusual. These fetal and placental findings may suggest possible BWS in some cases and allow for antenatal diagnosis of affected fetuses, clinical evaluation of additional family members, and planning for neonatal care.

Adult↗
PubMed1991

Flow cytometric analysis of DNA content in partial hydatidiform moles with persistent gestational trophoblastic tumor.

Hydatidiform moles may be classified as partial or complete based on genetic and pathologic criteria. Between January 1979 and January 1990, 17 (5.5%) of 310 patients followed for partial mole developed persistent gestational trophoblastic tumor. Tissues from 14 partial moles were available for flow cytometric analysis of DNA content. Eleven partial moles (85%) were triploid, two (15%) were diploid, and one DNA histogram was uninterpretable. All patients with triploid partial moles achieved complete remission with one course of single-agent chemotherapy. The two with diploid partial mole required multiple courses of chemotherapy to achieve gonadotropin remission. Although the DNA content of most partial moles with persistent gestational trophoblastic tumor was triploid, diploid partial moles with persistent tumor were less sensitive to single-agent chemotherapy.

DNA, Neoplasm↗
PubMed1991

Flow cytometric analysis of nuclear DNA content in gestational trophoblastic disease.

Flow cytometric analysis of nuclear DNA is a quick and accurate method of determining nuclear ploidy. This technique allows a clear distinction to be made between diploid and triploid hydatidiform moles. Additional ploidy aberrations, such as tetraploidy and aneuploidy, have also been reported in flow cytometric studies of hydatidiform moles. Recent investigations have suggested that aneuploidy in complete hydatidiform moles is associated with a high risk of persistent gestational trophoblastic disease. In addition to DNA ploidy analysis, cell cycle activity may be calculated from analysis of the DNA histogram. No significant correlation between clinical course and cell cycle kinetics has been demonstrated to date. By providing valuable DNA ploidy data, flow cytometric studies of hydatidiform moles may be helpful in the identification of patients at high risk of postmolar trophoblastic sequelae.

DNA↗
PubMed1991

Gestational trophoblastic disease of the fallopian tube.

Tubal gestational trophoblastic disease (GTD) was diagnosed in 16 (0.8%) of 2,100 women with GTD managed at the New England Trophoblastic Disease Center. Tubal partial mole, complete mole and choriocarcinoma were present in 5, 5 and 6 patients, respectively. Patients with tubal GTD were not clinically distinguishable from those with traditional tubal pregnancies. While only one patient with tubal mole developed metastases, four patients with tubal choriocarcinoma presented with metastases. All the patients achieved complete, sustained remission.

Adolescent↗
PubMed1991

Ovarian granulosa-stromal cell tumors are characterized by trisomy 12.

Eleven ovarian granulosa-stromal cell tumors including 1 thecoma, 2 fibromas, 6 fibrothecomas, and 2 granulosa cell tumors, were karyotyped after direct harvest and/or short-term tissue culture. Bilateral fibrothecomas from one patient appeared to lack cytogenetic aberrations: the remaining nine tumors were characterized by trisomy for chromosome 12. Cytogenetic aberrations in the two granulosa cell tumors were much less complex than those described previously in undifferentiated carcinomas; accordingly cytogenetic analyses might be useful in distinguishing these categories. The consistent occurrence of trisomy 12 in different varieties of granulosa-stromal cell tumors suggests a common mechanism of oncogenesis within this diverse group of neoplasms. That mechanism probably involves promotion of low-grade, orderly cell proliferation.

Chromosomes, Human, Pair 12↗
PubMed1990

Chromosome aberrations in uterine smooth muscle tumors: potential diagnostic relevance of cytogenetic instability.

Cytogenetic studies were carried out on a low-grade metastatic uterine leiomyosarcoma and on a large degenerating uterine leiomyoma. The leiomyosarcoma and leiomyoma were hyperdiploid and hypodiploid, respectively, and both tumors contained multiple consistent chromosome aberrations. In the patient with leiomyosarcoma, flow cytometric studies of proliferative foci from a previously resected uterine leiomyoma revealed near triploidy, suggesting that the leiomyosarcoma was metastatic from an unrecognized malignant uterine primary lesion. The leiomyosarcoma was characterized by extreme cytogenetic instability, whereas the leiomyoma demonstrated cytogenetic stability. The present cases and review of the literature on leiomyosarcomas and leiomyomas reveal cytogenetic instability to be very common in leiomyosarcomas (present in 8 of 10 cases) and uncommon in leiomyomas (present in 1 of 25 cases). A grading system is described which might be useful in evaluating the diagnostic and prognostic relevance of cytogenetic instability in uterine, and other, malignancies.

Aged↗
PubMed1990

Persistent gestational trophoblastic tumor after partial hydatidiform mole.

The current study investigates the clinical characteristics of patients with partial molar pregnancy who developed persistent gestational trophoblastic tumor (GTT). Between January 1979 and January 1989, 16 of 240 (6.6%) patients, who were followed for partial mole, developed persistent GTT. Fifteen (94%) patients were diagnosed as having a missed abortion before evacuation and only 1 patient presented with excessive uterine size and theca lutein ovarian cysts and was felt to have molar disease. No patient presented with toxemia, hyperemesis, or hyperthyroidism. All 16 patients developed nonmetastatic GTT. Fifteen patients achieved complete remission with methotrexate-citrovorum factor and only 1 patient required combination chemotherapy to attain remission. None of the patients had histologic evidence of choriocarcinoma. Patients with partial mole who developed persistent GTT did not have clinical or pathological characteristics that distinguished them from other patients with partial mole. All patients with partial mole should be followed with measurement of hCG levels to assure gonadotropin remission.

Adult↗
PubMed1990

Epithelial ovarian tumors of borderline malignancy.

Between January 1975 and January 1987, 80 patients underwent primary surgery at Brigham and Women's Hospital for epithelial ovarian tumors of borderline malignancy. Surgical staging revealed 52 (65%) patients with stage IA, 2 (2.5%) with stage IB, 10 (12.5%) with stage IC, 4 (5%) with stage II, 11 (13.8%) with stage III, and 1 (1.2%) with stage IV. All 37 patients with mucinous tumors had stage I disease, whereas 13 (33%) of 39 patients with serous tumors had stage II-IV disease. The mean sizes of mucinous and serous ovarian tumors were 18.7 and 10 cm, respectively. At initial surgery, 48 (60%) patients had a total abdominal hysterectomy with bilateral salpingo-oophorectomy and 16 (20%) had an oophorectomy. Sixteen (20%) patients underwent cystectomy, 6 (37.5%) of whom subsequently had an oophorectomy. All 10 patients treated by cystectomy alone have remained disease free. CA-125 levels were normal in 5 patients with stage I disease, but were elevated in 6 of 8 patients with more advanced tumors. Current disease status was determined in 72 patients (90%); 69 (95.8%) are alive and disease free, 1 (1.4%) patient is alive with tumor, and 2 (2.8%) patients died, free of disease.

Adult↗