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Paola Collini

Publications and source records attributed to Paola Collini.

48 records · Page 3Linked to original sources
PubMed2003

Evidence of neural differentiation in a case of post-therapy primitive neuroectodermal tumor/Ewing sarcoma of bone.

Neural differentiation with the appearance of ganglion-like cells has been reported in untreated primitive neuroectodermal tumor/Ewing sarcoma (PNET/EWS) at peculiar sites, such as the cauda equina, and following treatment. The case is presented here of a 17-year-old girl with a tumor in the iliac bone. An open biopsy was diagnosed as PNET/EWS of the bone. The tumor had the typical morphology of this tumor type and showed diffuse membranous immunoreactivity for CD99, intense immunoreactivity for synaptophysin, and focal immunoreactivity for neuron-specific enolase and S-100 protein. Occasional reactivity for vimentin was evident, while no immunoreactivity for NB84a, Hu, chromogranins A and B, neurofilaments, cytokeratins, and desmin was present. The patient underwent chemotherapy and radiotherapy, followed by right internal hemipelvectomy. The post-treatment residual viable tumor showed a morphologic appearance resembling a neuroblastoma, with immunoreactivity for NB84a, Hu, synaptophysin, and chromogranins A and B, but not for CD99. RT-PCR performed on tumor tissue before and after therapy showed the presence of the EWS-FLI1 fusion transcript, type I in both samples. This case of PNET/EWS is unique in the sense of showing the typical fusion transcript associated with this tumor both in the morphologically typical pretherapy tumor and in the sample from the post-therapy specimen showing neuroblastoma-like features.

Adolescent↗
PubMed2002

Minimally invasive (encapsulated) follicular carcinoma of the thyroid gland is the low-risk counterpart of widely invasive follicular carcinoma but not of insular carcinoma.

Minimally invasive (encapsulated) follicular carcinoma (MIFC), widely invasive follicular carcinoma (WIFC), and insular carcinoma (IC) are three distinct types of thyroid carcinomas composed of follicular cells, IC representing the poorly differentiated counterpart. Our aim was to test whether there is a time-dependent relationship among these three entities, in particular whether MIFC is the low-risk form of the entire group. We used overall survival analysis and multiple correspondence analysis (MCA), the latter exploring the clinicopathological characteristics at onset (sex, age, TNM/pTNM classification). The study included 18 MIFCs, 29 WIFCs, and 27 ICs. On the basis of both overall survival and MCA, WIFC emerged as the high-risk counterpart of MIFC, occurring in older age, with a larger size, a widespread growth into the thyroid parenchyma, and presenting with distant metastases. In both types of follicular carcinoma distant metastases involved only lung and bone, and there was no tendency for local spread beyond the thyroid capsule or nodal metastases. By contrast, IC confirmed to be a distinct high-risk lesion, showing both follicular and papillary-related biological behavior characteristics.

Adenocarcinoma, Follicular↗
PubMed2002

Intensive, very short-term chemotherapy for advanced Burkitt's lymphoma in children.

PURPOSE: To improve the 63% event-free survival (EFS) achieved before 1986 in Murphy's stage III to IV Burkitt's lymphoma (BL), both chemotherapy and supportive care were intensified. PATIENTS AND METHODS: From May 1987 to February 2001, 60 children, median age 9 years (range, 2.1 to 17 years), with advanced BL were enrolled onto two sequential institutional studies. From 1987 to 1992, 30 patients were stratified according to the absence (regimen IA, n = 19) or presence (regimen IB, n = 11) of bone marrow (BM) or CNS involvement. After 5-week cytoreductive chemotherapy consisting of vincristine, cyclophosphamide, doxorubicin, high-dose (HD) methotrexate (MTX), and intrathecal MTX or cytarabine, HD cytarabine and cisplatin were provided as a 4-day continuous infusion. Regimen IB was intensified by adding etoposide and HD ifosfamide and escalating MTX doses. Since 1992, regardless of BM or CNS status, 30 patients have been placed on regimen II, which is identical to IB but without ifosfamide. The scheduled duration of regimen II was 45 days. RESULTS: EFS and disease-free survival at 5 years are 81% +/- 5% and 87% +/- 5%, respectively, for 59 assessable patients (73% +/- 8% and 85% +/- 7% for regimen IA + IB, 89% +/- 6%, EFS and disease-free survival, for regimen II; median follow-up, 6.7 years; range, 0.6 to 13.5 years). Six patients, two of whom were receiving regimen II, died as a result of initial treatment failure or relapse, and five patients, none receiving regimen II, died as a result of treatment-related complications. CONCLUSION: This 45-day intensive chemotherapy program is the shortest schedule for disseminated BL and overcomes previously recognized risk factors such as BM and CNS infiltration.

Adolescent↗
PubMed2002

RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease.

BACKGROUND: RET proto-oncogene germ line mutations are associated with the inherited multiple endocrine neoplasia type 2 syndromes (MEN 2), as well as with familial and sporadic Hirschsprung's disease (HSCR). In this study, we report a family in which the MEN 2A and the HSCR phenotypes are associated with a single point mutation in exon 10 of the RET proto-oncogene. Furthermore, we have investigated polymorphic sequence variants of the RET proto-oncogene. METHODS: Family members were tested for RET proto-oncogene mutations in exons 10, 11, 13, 14, 15, and 16 by double-gradient denaturing-gradient gel electrophoresis, nucleotide sequence analysis, and restriction endonuclease digestion of polymerase chain reaction products. The status of exon 2 and 13 polymorphic sites was investigated by EagI and TaqI digestion in 12 selected patients. RESULTS: A heterozygous C618R mutation of RET exon 10 was identified in 12 family members. Five out of 7 children with mildly elevated pentagastrin-stimulated calcitonin levels who carried the mutation underwent prophylactic thyroidectomy before the age of 12. C-cell hyperplasia (CCH) was found in 4 children and a microscopic medullary thyroid carcinoma (MTC) in an 8-year-old female. Neither CCH nor MTC was found in the only family member affected with HSCR, an 8-year-old male. This patient inherited the mutated RET allele from his mother, who had MTC but not HSCR, together with a rare allelic variant at codon 45 of RET exon 2. CONCLUSIONS: This report of a newly-described kindred with the infrequent clinical association between MEN 2A and HSCR confirms the risk of the latter phenotype among carriers of RET exon 10 cysteine codon mutations. Nevertheless, the influence of other genetic or environmental factors cannot be excluded.

Adult↗
PubMed2002

Papilliferous keratoameloblastoma of mandible: a papillary ameloblastic carcinoma: report of a case with a 6-year follow-up and review of the literature.

We report a fourth case of papilliferous keratoameloblastoma, with a 6-year follow-up. A 62-year-old man underwent resection of a right mandibular neoplasm infiltrating bone and soft tissues. Microscopically, there were cysts lined by papillary projections and containing necrotic debris. Cribriform, solid, and tubular patterns were also present. No regional or distant metastases were found. A local recurrence, developed 3 years later, showed a predominance of the lesser differentiated patterns and focal granular cell ameloblastomatous features. The patient died soon after surgery of unrelated causes, with a further local relapse. The tumor coexpressed cytokeratins and vimentin, and S100 protein (the latter focally in the relapse). It was instead unreactive for Alcian blue, actin, maspin, and GFAP. We suggest that papilliferous keratoameloblastoma be renamed "papillary ameloblastic carcinoma."

Ameloblastoma↗
PubMed1998

Concurrent Pheochromocytoma, Paraganglioma, Papillary Thyroid Carcinoma, and Desmoid Tumor: A Case Report with Analyses at the Molecular Level.

Reports on the association of papillary thyroid carcinoma with paraganglionic or desmoid tumors have appeared infrequently. The former setting usually affects middle-aged females; the latter is typical of familial adenomatous polyposis. We report the case of a 69-yr-old man in whom two abdominal masses had been instrumentally detected following an access of abdominal pain. Save for a moderate hypertension, he was asymptomatic and an impalpable thyroid nodule was detected by ultrasonography. A high urinary noradrenaline output and cytology of the masses raised the suspicion of pheochromocytoma. At laparotomy, an adrenal pheochromocytoma and a paracaval paraganglioma were excised. Subsequently, hemithyroidectomy was performed, and histopathology revealed papillary microcarcinoma. A nodule of desmoid tumor was also removed from the abdominal wall. An analysis of RET, APC, and TP53 gene mutations, and of RET and NTRK1 gene rearrangements, yielded negative results. No in vitro transforming activity was detected in the tumor DNA when assayed in transfection experiments. The lack of a consistent family history also made unlikely the possibility of identifying the putative germline defect by linkage analyses. Should this unusual aggregation of tumors represent a new entity, a number of genetic alterations have now been excluded.

Journal Article↗
PubMedDate not supplied

Prophylactic thyroidectomy in MEN 2A syndrome.

Genetic testing is the appropriate procedure in MEN 2A syndrome for the early diagnosis of medullary carcinoma even at a preclinical stage. Prophylactic total thyroidectomy represents the standard preventive and therapeutic surgical approach in the treatment of medullary thyroid carcinoma in MEN 2A syndrome. Our experience has confirmed the presence of CCH and medullary thyroid carcinoma even in clinically negative patients, in agreement with reports in the literature.

Adult↗
PubMedDate not supplied

Cutaneous angiosarcoma in a patient with xeroderma pigmentosum.

Xeroderma pigmentosum (XP) is a DNA repair defect syndrome associated with an increased risk to developing skin neoplasms on sun-exposed cutaneous surfaces. This report describes the case of a 15-year-old boy with XP who developed cutaneous angiosarcoma. The patient was cured with surgery alone, despite incomplete resection, and he is alive without evidence of disease 40 months after diagnosis. It is the fourth reported case--and the third in pediatric age--of the association of XP with this soft part sarcoma.

Adolescent↗
PubMedDate not supplied

Detecting CD56+/NB84+/CD45- immunophenotype in the bone marrow of patients with metastatic neuroblastoma using flow cytometry.

BACKGROUND: In order to identify neuroblastoma cells infiltrating the bone marrow, a triple-color flow-cytometric assay was developed combining CD56 and CD45 with the intracellular anti-NB84 specific antibody. MATERIALS AND METHODS: The bilateral aspirates obtained from 27 consecutive children over the age of one year with stage 4 neuroblastoma were evaluated. RESULTS: Neuroblastoma cells were detected in the bone marrow of 17/27 (63%) and 19/27 (70%) cases using cytomorphology and triple-color flow-cytometry, respectively. Using cytometry, the percentage of CD56+/NB84+/CD45-cells infiltrating the bone marrow ranged from 0.02% to 65%. Five out of eight patients without bone marrow involvement according to cytometry are in continuous complete remission, while only 3 out of 19 patients whose bone marrow gave positive results are still alive. CONCLUSION: By combining CD45 and CD56 with the specific antibody, NB84, directed against neuroblastoma cells, we developed a rapid and reliable cytometric assay that can be associated with conventional cytomorphological bone marrow evaluation to detect infiltrating neuroblastoma cells, especially in cases of dubious positivity.

Adrenal Gland Neoplasms↗