Rosa Rinaldi

Axillary Lymph Node Nanometastases Are Prognostic Factors for Disease-Free Survival and Metastatic Relapse in Breast Cancer Patients

Purpose: Early breast cancer presents with a remarkable heterogeneity of outcomes. Undetected, microscopic lymph node tumor deposits may account for a significant fraction of this prognostic diversity. Thus, we systematically evaluated the presence of lymph node tumor cell deposits ≤0.2 mm in diameter [pN0(i+), nanometastases] and analyzed their prognostic effect. Experimental Design: Single-institution, consecutive patients with 8 years of median follow-up (n = 702) were studied. To maximize chances of detecting micrometastases and nanometastases, whole-axilla dissections were analyzed. pN0 cases (n = 377) were systematically reevaluated by lymph node (n = 6676) step-sectioning and anticytokeratin immunohistochemical analysis. The risk of first adverse events and of distant relapse of bona fide pN0 patients was compared with that of pN0(i+), pN1mi, and pN1 cases. Results: Minimal lymph node deposits were revealed in 13% of pN0 patients. The hazard ratio for all adverse events of pN0(i+) versus pN0(i−) was 2.51 (P = 0.00019). Hazards of pN1mi and pN0(i+) cases were not significantly different. A multivariate Cox model showed a hazard ratio of 2.16 for grouped pN0(i+)/pN1mi versus pN0(i−) (P = 0.0005). Crude cumulative incidence curves for metastatic relapse were also significantly different (Grays test χ2 = 5.54, P = 0.019). Conclusion: Nanometastases are a strong risk factor for disease-free survival and for metastatic relapse. These findings support the inclusion of procedures for nanometastasis detection in tumor-node-metastasis staging.

Biophenotypes and survival of BRCA1 and TP53 deleted breast cancer in young women.

The aim of this study was to examine the loss of heterozygosity (LOH) of BRCA1 (17q21) and TP53 (17p13.1) in early-onset breast cancer patients; to correlate biopathological characteristics with molecular alterations; and to investigate the survival of LOH-related cancers.BRCA1 and TP53 LOH were evaluated in 78 early-onset breast cancers (≤40 years, Group 1) and 80 patients with age <55 years (Group 2). Cases were characterized for multiple biological markers (ER, PR, proliferation index (PI), NEU and p53). LOH was carried out on microdissected paraffin embedded tissues; microsatellites D17S855 (BRCA1) and D17S786 (TP53) were amplified by fluorescent PCR and analyzed by an automated DNA sequencer. Early-onset breast cancers showed a higher frequency of ductal histotype (89,7% vs. 56,3% p<0.001), node-positive (53,8% vs. 38,7%), larger size (p=0.017), higher mitotic rate (p=0.025), higher nuclear and final grade (p=0.01 and p=0.001, respectively). D17S855 LOH was 32,8% in group 1 vs. 21% in group 2; D17S786 LOH was 50,7% vs. 31.3% (p=0.03), respectively. BRCA1 LOH was correlated with higher PI (p=0.032) and higher p53 expression (p<0.001) in group 1 and with higher NEU expression (p=0.028) in group 2. TP53 LOH was correlated with p53 overexpression (p=0.03) in group 1. A worse clinical outcome in early-onset LOH related cancers emerged from follow-up data: TP53 and BRCA1 LOH were associated with a shorter relapse free interval (RFI) (p=0.03) and a poorer overall survival (OS) (p=0.04), respectively. This study underlines different biological profiles in the two age groups investigated, probably reflecting different mechanisms of carcinogenesis. In accordance with adverse histopathological features in early-onset patients, LOH-related cancers have an unfavorable prognosis.

Adenocarcinoma Arising in an Elderly Patient’s Large Ileal Duplication

Bowel duplications are rare congenital anomalies commonly found in pediatric patients; few cases may remain undetected until adulthood. Malignant carcinomatous changes are rare complications in intestinal duplications. An 88-year-old female patient was referred to our surgical unit with the diagnosis of a large abdominal mass. An explorative laparotomy was performed, revealing a large (22 × 11 cm) neoplasm strictly connected to the lowest ileal segment and completely filling the pelvis. Definitive histology revealed a moderately differentiated adenocarcinoma developing in a duplication of the terminal ileum. The hypothesis of a gastrointestinal duplication should be evaluated in the differential diagnosis of large, complex, indeterminate masses located in or near the bowel; the possibility of neoplasm within the duplication should be considered.

Primary Pulmonary Epithelioid Hemangioendothelioma: A Rare Cause of PET-Negative Pulmonary Nodules

We report here a case of primary pulmonary epithelioid hemangioendothelioma diagnosed in a 67-year-old Caucasian man, presenting with exertion dyspnoea, dry cough, and multiple bilateral pulmonary nodules revealed by computed tomography. At the 18F-fluorodeoxyglucose positron emission tomography, these nodules were negative. The histopathological diagnosis was made on a pulmonary wedge resection (performed during video-thoracoscopic surgery).

Whipple Disease: Unusual Presentation of a Protean and Sometimes Confusing Disease

OBJECTIVES To describe an unusual case of Whipple disease (WD) with confusing clinical features at onset and to discuss the diagnostic challenges for the clinician. METHODS Description of a new case of this rare disease and thorough discussion of the atypical clinical manifestations at onset. A literature review, concerning the unusual onset, by means of a MEDLINE search from 1966 to 2007 was done. RESULTS A 39-year-old man with sudden bilateral blurred vision due to retinal vasculitis and concomitant rapidly evolving symmetrical neurosensory bilateral hearing loss as initial features of WD is described. Due to the clinical manifestations resembling systemic vasculitis, high-dose corticosteroid and pulse cyclophosphamide therapy were started with subsequent appearance of gastrointestinal symptoms (diarrhea and weight loss) and spiking fever, suggesting superimposed infection. After a complete evaluation, including gastroscopy, extensive duodenal-jejunal mucosal involvement was seen, while diffuse infiltration of the duodenal lamina propria with periodic acid-Schiff-positive foamy macrophages was observed on the histological sample. The diagnosis was confirmed by reverse transcriptase-polymerase chain reaction for the DNA of Tropheryma whippelii. To our knowledge, no previous similar clinical onset of WD has been described. CONCLUSIONS To avoid misdiagnosis and therapeutic mistakes, clinicians should be aware of unusual presentations of WD. Because this etiological agent is a difficult to isolate bacterium, diagnosis may be especially problematic in cases without intestinal involvement at onset.

Intracranial cavernoma and speckled lentiginous nevus: extending the spectrum of phakomatoses?

Phakomatosis refers to several malformation syndromes with simultaneous involvement of the skin, the eye, and the central nervous system by developmental lesions. Speckled lentiginous nevus (SLN), a subtype of congenital melanocytic nevi, is usually an isolate, harmless finding. Here, we report the case of a 52-year-old woman with congenital left laterocervical SLN associated with an ipsilateral intracranial extra-axial cavernous angioma, a yet not described association to date. After revision of the literature, we suggest that both these lesions could be correlated in the setting of an atypical, yet unclassifiable form of phakomatosis, such as phakomatosis pigmentovascularis or SLN syndrome. We also propose that patients with bizarre, geometrical, pigmented or vascular cervicocranial skin lesions should undergo a thorough neurologic and ophthalmologic evaluation.

Multidisciplinary management improves survival at 1 year after surgical treatment for non-small-cell lung cancer: a propensity score-matched study†

OBJECTIVES The management of patients affected by lung cancer requires the expertise of specialists from different disciplines. Although the advantages of multidisciplinary team discussions seem obvious, there are limited studies evaluating the influence of this approach on postoperative outcomes in non-small-cell lung cancer (NSCLC). The aim of this study is to examine the impact of a multidisciplinary approach on survival of patients undergoing surgery for NSCLC. METHODS A retrospective analysis was performed on consecutive patients who underwent surgery for NSCLC between January 2008 and December 2015. Data were compared between patients treated before the implementation of a multidisciplinary tumour board (MTB), between 2008 and 2012, and those who received treatment after the implementation of the MTB, between 2012 and 2015. Patients were matched one to one according to the discussion of the MTB and on the basis of a propensity score built using several patient characteristics. A propensity score-matched analysis was performed to compare patient outcomes. RESULTS A total of 246 patients were treated prior to the initiation of the MTB and 231 patients after the initiation of the MTB. Based on the propensity score, 2 well-matched groups of 170 patients were identified. Patients who were discussed at the MTB were noted to have better outcomes when compared with those who were not discussed at the MTB on different terms including complete staging evaluation, early tumour, node and metastasis (TNM) stages and 1-year survival rate. CONCLUSIONS Implementation of a multidisciplinary thoracic malignancy conference increased the 1-year survival rate of patients who underwent a surgical resection for NSCLC.

Diffuse pulmonary meningothelial like nodules simulating metastatic thymoma

Diffuse pulmonary meningotheliomatosis (DPM) is a parenchymal lung disease characterized by disseminated bilateral minute pulmonary meningothelial-like nodules (MPMNs). These meningothelial-like nodules are classically encountered as benign solitary or multiple pulmonary nodules containing small epithelioid cell collections nestled within normal pulmonary parenchyma.

A rare case of intralobar pulmonary sequestration: combined endovascular and video-assisted thoracoscopic approach

Pulmonary sequestration is a congenital malformation characterized by cystic, non-functioning embryonic lung tissue supplied by an abnormal systemic artery. Its a rare disease widely variable in clinical presentation and severity, depending mostly on the degree of lung involvement and location in the thoracic cavity. Most patients have recurrent infections and inflammatory conditions in the affected lobe. Surgical resection continues to be the gold standard of therapy and in this context anatomical resection is the procedure of choice and yields excellent long-term results. There are few studies reporting the use of combined endovascular and thoracoscopic approaches for pulmonary sequestration. We describe a case of intralobar pulmonary sequestration located in the lower lobe of the right lung, which was treated with video-assisted thoracoscopic surgery (VATS) after endovascular embolization of systemic artery arising from celiac trunk.

A Rare Case of Solitary Rib MetastasisThirty-Two Years after Resection ofParotid Gland Adenocarcinoma

Context: Parotid adenocarcinoma is a rare salivary gland neoplasm, showing distant metastases in 12%-26% of cases, according to histologic grade. The most frequent locations are the cervical lymph nodes, liver, lungs and bones and metastatic disease is usually associated with poor prognosis. Single late-onset rib metastasis from adenocarcinoma of parotid gland has never been reported in the literature. Case report: We describe the case of a sixty-three-years-old male presenting with an osteolytic rib lesion 32 yrs after surgery for parotid gland adenocarcinoma. The patient was successfully treated with en bloc resection of the 11th rib for parotid gland adenocarcinoma metastasis. The patient has no evidence of local recurrence or metastatic disease 40 months after resection. Conclusion: This case may be useful for making clinical decisions because underlines the challenges of giving patients the optimal treatment considering the limited ability to predict prognosis and highlights the need for careful follow-up even in absence of recurrence for 10 yrs after curative resection.