Idiopathic erythrocytosis: a germline disease?

Polycythemia Vera (PV) is typically caused by V617F or exon 12 JAK2 mutations. Little is known about Polycythemia cases where no JAK2 variants can be detected, and no other causes identified. This condition is defined as idiopathic erythrocytosis (IE). We evaluated clinical-laboratory parameters of a cohort of 56 IE patients and we determined their molecular profile at diagnosis with paired blood/buccal-DNA exome-sequencing coupled with a high-depth targeted OncoPanel to identify a possible underling germline or somatic cause. We demonstrated that most of our cohort (40/56: 71.4%) showed no evidence of clonal hematopoiesis, suggesting that IE is, in large part, a germline disorder. We identified 20 low mutation burden somatic variants (Variant allelic fraction, VAF, < 10%) in only 14 (25%) patients, principally involving DNMT3A and TET2. Only 2 patients presented high mutation burden somatic variants, involving DNMT3A, TET2, ASXL1 and WT1. We identified recurrent germline variants in 42 (75%) patients occurring mainly in JAK/STAT, Hypoxia and Iron metabolism pathways, among them: JAK3-V722I and HIF1A-P582S; a high fraction of patients (48.2%) resulted also mutated in homeostatic iron regulatory gene HFE-H63D or C282Y. By generating cellular models, we showed that JAK3-V722I causes activation of the JAK-STAT5 axis and upregulation of EPAS1/HIF2A, while HIF1A-P582S causes suppression of hepcidin mRNA synthesis, suggesting a major role for these variants in the onset of IE.

Single fixed-time artificial insemination in gilts and weaned sows using pLH at estrus onset administered through vulvar submucosal route.

This study evaluated the use of a single fixed-time artificial insemination (FTAI) in gilts and weaned sows using 2.5 mg of porcine luteinizing hormone (pLH) administered through vulvar submucosal route, at the onset of estrus. In experiment 1 (Exp.1), 318 pubertal gilts were assigned to two groups: control-G-no hormonal application and artificial inseminations (AIs) at 12, 36, and 60 hours after the onset of estrus if they were still in standing estrus; and FTAI-G-use of pLH at the onset of estrus and a single FTAI 12 hours later. In experiment 2 (Exp. 2), 309 weaned sows were assigned to three groups: Control-S-no hormone application and AIs at 0, 24, and 48 hours after the onset of estrus if they were still in standing estrus; FTAI-NH-no hormone application and a single FTAI at 24 hours after the onset of estrus, and FTAI-pLH-use of pLH at the onset of estrus and a single FTAI 24 hours later. Transabdominal real time B-mode ultrasonography was performed to determine whether the insemination had been performed within 24 hours before ovulation, considered as the optimal interval. In Exp. 1, ultrasound evaluation (12-hour intervals) was carried out to determine the interval between the onset of estrus and ovulation. In both experiments, 2 × 10(9) sperm cells in 80 mL were used to perform cervical and postcervical deposition of semen in gilts and sows, respectively. Compared with control-G, FTAI-G gilts had shorter (P < 0.05) duration of estrus (57.7 vs. 61.2 hours) and interval between the onset of estrus and ovulation (36.3 vs. 42.3 hours). The adjusted farrowing rate (AFR) was lower (P < 0.05) in FTAI-G (86.0%) compared with control-G (93.5%), but total piglets born (TPB) did not differ between these groups (12.3 vs. 12.5 piglets). Within the FTAI-G group, the AFR was lower (P < 0.05) in the presence (50.0%) than in the absence (94.9%) of semen backflow during AI. Also in the FTAI-G group, the insemination outside the optimal interval reduced (P < 0.05) the TPB (10.5 vs. 12.9 piglets) in comparison with gilts inseminated within the optimal interval. In Exp. 2, there were no differences in the AFR (Control-S: 94.1%; FTAI-NH: 86.1%; FTAI-pLH: 88.0%) and TPB (Control-S: 12.8; FTAI-NH: 12.7, and FTAI-pLH: 12.0 piglets) among treatments. The presence of semen backflow reduced (P < 0.05) the TPB in FTAI-pLH and FTAI-NH sows. In the FTAI-pLH, a single insemination performed too late relative to ovulation reduced the AFR (P < 0.05) compared with sows inseminated within the optimal interval. In conclusion, 2.5-mg pLH applied at the vulvar submucosa at the onset of estrus advances the ovulation in gilts, but a single FTAI performed 12 hours later reduces the farrowing rate. A single FTAI performed at 24 hours after the onset of estrus in weaned sows does not affect their reproductive performance, regardless of pLH application.

Early diagnosis of bladder cancer through the detection of urinary tyrosine-phosphorylated proteins.

BACKGROUND: A noninvasive, highly sensitive and specific urine test is needed for bladder cancer (BC) diagnosis and surveillance in addition to the invasive cystoscopy. We previously described the diagnostic effectiveness of urinary tyrosine-phosphorylated proteins (UPY) and a new assay (UPY-A) for their measurement in a pilot study. The aim of this work was to evaluate the performances of the UPY-A using an independent cohort of 262 subjects. METHODS: Urinary tyrosine-phosphorylated proteins were measured by UPY-A test. The area under ROC curve, cutoff, sensitivity, specificity and predictive values of UPY-A were determined. The association of UPY levels with tumour staging, grading, recurrence and progression risk was analysed by Kruskal-Wallis and Wilcoxon's test. To test the probability to be a case if positive at the UPY-A, a logistic test adjusted for possible confounding factor was used. RESULTS: Results showed a significant difference of UPY levels between patients with BC vs healthy controls. For the best cutoff value, 261.26 Standard Units (SU), the sensitivity of the assay was 80.43% and the specificity was 78.82%. A statistically significant difference was found in the levels of UPY at different BC stages and grades between Ta and T1 and with different risk of recurrence and progression. A statistically significant increased risk for BC at UPY-A ⩾261.26 SU was observed. CONCLUSIONS: The present study supplies important information on the diagnostic characteristics of UPY-A revealing remarkable performances for early stages and allowing its potential use for different applications encompassing the screening of high-risk subjects, primary diagnosis and posttreatment surveillance.

Treatment Efficacy and Resistance Mechanisms Using the Second-Generation ALK Inhibitor AP26113 in Human NPM-ALK-Positive Anaplastic Large Cell Lymphoma.

UNLABELLED: ALK is a tyrosine kinase receptor involved in a broad range of solid and hematologic tumors. Among 70% to 80% of ALK(+) anaplastic large cell lymphomas (ALCL) are caused by the aberrant oncogenic fusion protein NPM-ALK. Crizotinib was the first clinically relevant ALK inhibitor, now approved for the treatment of late-stage and metastatic cases of lung cancer. However, patients frequently develop drug resistance to Crizotinib, mainly due to the appearance of point mutations located in the ALK kinase domain. Fortunately, other inhibitors are available and in clinical trial, suggesting the potential for second-line therapies to overcome Crizotinib resistance. This study focuses on the ongoing phase I/II trial small-molecule tyrosine kinase inhibitor (TKI) AP26113, by Ariad Pharmaceuticals, which targets both ALK and EGFR. Two NPM-ALK(+) human cell lines, KARPAS-299 and SUP-M2, were grown in the presence of increasing concentrations of AP26113, and eight lines were selected that demonstrated resistance. All lines show IC50 values higher (130 to 1,000-fold) than the parental line. Mechanistically, KARPAS-299 populations resistant to AP26113 show NPM-ALK overexpression, whereas SUP-M2-resistant cells harbor several point mutations spanning the entire ALK kinase domain. In particular, amino acid substitutions: L1196M, S1206C, the double F1174V+L1198F and L1122V+L1196M mutations were identified. The knowledge of the possible appearance of new clinically relevant mechanisms of drug resistance is a useful tool for the management of new TKI-resistant cases. IMPLICATIONS: This work defines reliable ALCL model systems of AP26113 resistance and provides a valuable tool in the management of all cases of relapse upon NPM-ALK-targeted therapy.

Use of porcine luteinizing hormone at oestrous onset in a protocol for fixed-time artificial insemination in gilts.

The aim of this study was to evaluate the effect of porcine luteinizing hormone (pLH) given at oestrous onset in gilts, by different routes and doses, on the interval between onset of oestrus and ovulation (IOEO) and reproductive performance using a single fixed-time artificial insemination (FTAI). A total of 153 gilts were submitted to oestrous detection at 8-h intervals and assigned to three groups: control - without hormone application and inseminated at 0, 24 and 48 h after oestrous onset; VS2.5FTAI - 2.5 mg pLH by the vulvar submucosal route at oestrous onset and a single FTAI 16 h later; IM5FTAI - 5 mg pLH by the intramuscular route at oestrous onset and a single FTAI 16 h later. More VS2.5FTAI gilts (47.1%; p < 0.05) ovulated within 24 h after oestrous onset than control gilts (25.5%) whereas IM5FTAI gilts had an intermediate percentage (31.4%; p > 0.05). The IOEO tended to be shorter (p = 0.06) in VS2.5FTAI (30.2 ± 1.4 h) than in control (34.7 ± 1.4 h) gilts, but there was no difference (p > 0.05) between control and IM5FTAI (32.8 ± 1.4 h) gilts. Farrowing rate was not different (p > 0.05) among treatments. Total born piglets (TB) was lower (p < 0.05) in VS2.5FTAI (12.3 ± 0.4) than in control gilts (14.1 ± 0.4), whereas intermediate TB was observed in IM5FTAI gilts (13.3 ± 0.4). Due to the advancement of ovulation, reduction of the hormonal dose and the ease of application, the vulvar submucosal route would be the best option for FTAI protocols, but their negative impact on litter size remains to be elucidated. Taking into account the good fertility results obtained in IM5FTAI gilts whose ovulation was not advanced, the possibility of a single FTAI without any hormonal treatment should be further investigated, to establish reliable FTAI protocols for gilts.

The role of surgery in a case of diffuse mucormycosis with haematemesis and gastric necrosis.

Mucormycosis is a life threatening condition caused by invasion of fungi of the order Mucorales. Gastrointestinal invasion is very rare and often lethal, particularly in disseminated mucormycosis. We present the case of a 26-year-old woman from North Africa with type 2 diabetes who, after a cholecystectomy, developed unexplained septic shock and haematemesis due to gastric necrosis. Computed tomography (CT) revealed a disseminated fungal invasion of the lungs, kidney and paranasal sinuses. A gastrectomy and subsequent amphotericin B treatment resolved her condition. The number of patients with mucormycosis is increasing. Early diagnosis of high risk patients with CT and biopsies from which fungi are directly isolated must be followed by surgery and systemic amphotericin B infusion.

Fixed-time post-cervical artificial insemination in sows receiving porcine luteinising hormone at oestrus onset.

Fixed-time post-cervical artificial insemination (FTPCAI) allows a wider use of high indexing boars and a considerable reduction in labour requirements in swine production. The aim of this study was to evaluate fixed-time artificial insemination (FTAI) efficiency using different artificial insemination protocols and porcine luteinising hormone (pLH) to induce ovulation. A total of 597 weaned sows in which oestrus detection was performed once daily (08:00 am) was allocated to three groups: FTPCAI1 (n=199) - sows received a 5-mg (4 ml) intramuscular injection of pLH at oestrus onset, and were inseminated 24h later; FTPCAI2 (n=199) - sows received 5mg of pLH and were inseminated at oestrus onset (0 h) and 24h after; and MultPCAI (n=199) - sows did not receive pLH, and the first AI was performed at oestrus onset (0 h) and repeated every 24h during oestrus. Homospermic doses (1.5 × 10(9) total sperm cells/50 ml) were used in post-cervical artificial insemination (PCAI) in all the treatments. Hormonal treatment did not affect (P>0.05) the interval between oestrus onset and ovulation (overall 32.4h) and there were no differences (P>0.05) in farrowing rate (overall 91.6%) or litter size (overall 12.6 piglets born) among treatments. In sows treated with pLH at oestrus onset, a single PCAI with 1.5 billion sperm cells did not compromise reproductive performance compared with a double PCAI at 24h intervals.

The post-cervical insemination does not impair the reproductive performance of primiparous sows.

The study evaluated the reproductive performance of primiparous sows submitted to post-cervical insemination (PCAI) compared with cervical artificial insemination (CAI). Difficulty with catheter introduction, the occurrence of bleeding or semen backflow during insemination, and volume and sperm cell backflow up to 60 min after insemination were also evaluated. Sows were homogenously distributed, according to body weight loss in lactation, lactation length, weaned piglets, weaning-to-oestrus interval and total born in previous farrowing, in two treatments: PCAI (n = 165) with 1.5 × 10(9) sperm cells in 45 ml (2.4 ± 0.04 doses per sow) and CAI (n = 165) with 3 × 10(9) sperm cells in 90 ml (2.5 ± 0.04 doses per sow). During PCAI, sows were inseminated in the absence of boars. Transabdominal real-time ultrasonography was performed at oestrus onset, immediately before the first insemination and at 24 h after last insemination. There was no difference (P > 0.05) between treatments in farrowing rate (91.5% × 89.1%) and litter size (12.5 × 11.9 piglets born, respectively for PCAI and CAI sows). Successful passage of the intrauterine catheter in all the inseminations was possible in 86.8% (165/190) of sows initially allocated to PCAI treatment. Difficulty of introducing the catheter in at least one insemination did not affect the reproductive performance of PCAI sows (P > 0.05). Bleeding during insemination did not affect (P > 0.05) the farrowing rate in both treatments, but litter size was reduced in CAI and PCAI sows (P ≤ 0.06). Percentage of spermatozoa present in backflow within 1 h after insemination was greater in CAI than PCAI sows (P < 0.01). More than 85% of primiparous sows can be successfully post-cervical inseminated with doses containing 1.5 × 10(9) sperm cells in the absence of the boar during insemination without impairing the reproductive performance.

Electrophysiological patterns of oropharyngeal swallowing in multiple sclerosis.

OBJECTIVE: We performed an electrophysiological study of swallowing (EPSS) in multiple sclerosis (MS) to describe oropharyngeal swallowing abnormalities and to analyze their correlations with dysphagia and with overall neurological impairment. METHODS: Neurological examinations were quantified using the Kurtzke Functional Systems and the Expanded Disability Status Scale (EDSS). Dysphagia was evaluated using the Dysphagia in Multiple Sclerosis (DYMUS) questionnaire, while fiberoptic endoscopic evaluation of swallowing (FEES) was used to establish the degree of aspiration and penetration, graded using the penetration-aspiration scale (PAS). The EPSS measured the duration of suprahyoid/submental muscle EMG activity (SHEMG-D), the duration of the laryngeal-pharyngeal mechanogram (LPM-D), and the duration of the pause in cricopharyngeal muscle EMG activity (CPEMG-PD); it also measured the interval between onset of the suprahyoid/submental muscle EMG activity (SHEMG) and onset of the laryngeal-pharyngeal mechanogram (I-SHEMG-LPM). RESULTS: 92% of patients showed at least one electrophysiological abnormality. I-SHEMG-LPM correlated positively with the DYMUS questionnaire. I-SHEMG-LPM, SHEMG-D, and DYMUS correlated positively with the PAS. Moderate to severe bladder sphincter dysfunction was associated with a significant reduction, or absence, of CPEMG-PD. CONCLUSION: EPSS improves our understanding of the pathophysiology of dysphagia in MS. SIGNIFICANCE: This investigation could be useful in MS patients with swallowing abnormalities.

A high-throughput assay for the detection of Tyr-phosphorylated proteins in urine of bladder cancer patients.

BACKGROUND: Bladder cancer has the peculiarity of shedding neoplastic cells and their components in urine representing a valuable opportunity to detect diagnostic markers. Using a semi-quantitative method we previously demonstrated that the levels of Tyr-phosphorylated proteins (TPPs) are highly increased in bladder cancer tissues and that soluble TPPs can also be detected in patient's urine samples. Although the preliminary evaluation showed very promising specificity and sensitivity, insufficient accuracy and very low throughput of the method halted the diagnostic evaluation of the new marker. To overcome this problem we developed a quantitative methodology with high sensitivity and accuracy to measure TPPs in urine. METHODS: The Immobilized Metal Affinity Chromatography (IMAC) was miniaturized in a 96 well format. Luminescence, visible and infrared fluorescence antibody-based detection methods were comparatively evaluated. RESULTS: Due to their low abundance we evidenced that both phosphoprotein enrichment step and very sensitive detection methods are required to detect TPPs in urine samples. To pursue high throughput, reproducibility and cost containment, which are required for bladder cancer screening programs, we coupled the pre-analytical IMAC procedure with high sensitive detection phases (infrared fluorescence or chemiluminescence) in an automated platform. CONCLUSIONS: A high throughput method for measuring with high sensitivity TPP levels in urine samples is now available for large clinical trial for the establishment of the diagnostic and predictive power of TPPs as bladder cancer marker. GENERAL SIGNIFICANCE: The new assay represents the first quantitative and high throughput method for the measurement of TPPs in urine.

Early insertion of inflatable prosthesis for intractable ischemic priapism: our experience and review of the literature.

A cohort of 20 patients with delayed priapism who underwent treatment at the Emergency Department of our academic referral centers between January 2002 and April 2010 was studied. Of these, 16 cases suffered from a low-flow priapism. A total of 6 cases were managed non-surgically, 10 required shunt surgery, and of these 5 were treated by early penile prosthesis surgery. Prostheses were easily implanted in all patients with a mean operative time of 94 min. No intraoperative complications and no infection were registered. All patients with an inflatable prosthesis complained a reduction in penile sensibility that lasted 3 months. All patients were satisfied with the results of surgery (International Index of Erectile Function Questionnaire-5, Q5 mean value 4), and all were successfully engaging in satisfactory sexual intercourses. No significant loss of penile length, neither apical erosion nor extrusion was recorded. Early insertion of a penile prosthesis is a simple and safe procedure in patients with ischemic priapism, which failed to respond to conservative management. Early insertion of a prosthesis helps to maintain adequate penile length, resolve priapism and, in the long term, it results in high satisfaction rates.

[Avulsion of the penile skin: a conservative approach]. / Avulsione della cute peniena: un approccio conservativo.

INTRODUCTION: Skin avulsion of male genital is a rare urological emergency. Although not life-threatening such lesions are both physically and psychologically traumatic. If poorly managed in the acute setting, these injuries may result in long-term problems or permanent disabilities. METHODS: A 58 year-old male patient was admitted to the Emergency Department of our hospital with a traumatic injury of the penis, caused by a bike trauma. At the inspection, a rather complete degloving of penis and a tear in scrotal skin with no involvement of testes were observed. The skin was completely detached, out of the penis, but for a small flap at the peno-scrotal angle. After a careful cleaning, the penis was covered again with the skin attached to peno-scrotal angle through multiple circumferential sutures. RESULTS: A complete cover of the defects was obtained with one-step surgery. The patient was treated with broad spectrum of antibiotics for 1 month. No infections occurred. The patient was discharged from hospital after 5 days. After 3 months from trauma, the patient is able to achieve sexual intercourse, with normal erectile function, no painful erections and no penile recurvatum. CONCLUSIONS: Traumatic skin avulsion of penis is a rare condition; the best aesthetic and functional results depends on the choice of the proper treatment. Conservative approach in selected cases can provide good results both aesthetically and functionally.

[Transvaginal repair of neobladder vaginal fistula]. / Riparazione trans-vaginale di fistola neovescico-vaginale.

INTRODUCTION: Neobladder vaginal fistula is a known complication after cystectomy and orthotopic neobladder in women. The exact incidence is still unknown, even if in some of the largest series is reported in about 5% of female patients. We present our personal experience with a case of neobladder vaginal fistula. METHODS: A fifty-year old woman affected by T2G3 bladder cancer underwent radical cystectomy and orthotopic neobladder in December 2007. Definitive pathological examination revealed pT3aN0G3 urothelial cancer with squamous aspects. Two cycles of neoadjuvant chemotherapy were administered before cystectomy. Three weeks after cystectomy, a retrograde cystography revealed a fistula between vagina and neobladder. At first, the patient was treated conservatively, keeping the urethral catheter for two months. Cystographies, repeated every month, recorded a reduction in size of the fistula but not the complete closure. A surgical correction was planned. Preoperative cystoscopy showed the neobladder opening of the fistula on the posterior wall. Then a transvaginal approach with fistula excision and a two layer cross suture were performed. RESULTS: At the cystography performed 1 month after surgical repair no fistula was detected, and the patient was completely dry. At 3 months follow-up the patient was completely dry. CONCLUSION: The development of a neobladder-vaginal fistula is a significant, even if infrequent, complication after cystectomy. In our case, we performed a transvaginal approach without tissue interposition, with good results. Such procedure is easy and effective and, in our opinion, can be tempted as first line surgical treatment.

[Proposal for a follow-up of patients with orthotopic neobladder]. / Proposta di follow-up del paziente con neovescica ortotopica.

Today, the most widely employed "solution" after radical cystectomy is bladder substitution through the creation of an orthotopic neobladder. Many kind of orthotopic neobladders have been proposed and employed and, during the last 20 years, we have observed a continuous improvement of such techniques. Nevertheless, notwithstanding these technical improvements, patients with orthotopic neobladder can still report many various complications. Thus, a specific "functional" follow-up is mandatory; "functional" follow-up should be associated and integrated to oncological follow-up that these patients usually undergo. Functional follow-up should be lifelong.

[Retroperitoneoscopic nephropexy]. / Nefropessi retroperitoneoscopica.

INTRODUCTION: Nephroptosis has been defined as renal descent of 5 or more cm on orthostasis. This disease is more frequent in young and slim women. The patient complains pain in upright position,that regress lying down. The therapy consists of surgical treatment. We report the case of a woman treated with retroperitoneoscopic nephropexy. METHODS: We present the case of a 25-years old woman, affected by lumbar pain in upright position for about 1 year. Ultrasound scan of the abdomen and RX-KUB did not show hydronephrosis nor stones. Both an orthopedic examination and a spinal MRI excluded bone or muscular diseases. Intravenous pyelography and diuretic isotope renography in upright position revealed a renal descent of more than 5 cm, without obstruction of upper urinary tract. The patient underwent a renal color doppler imaging, that showed reduction of right kidney resistive index in upright position. The patient underwent a right retroperitoneoscopic nephropexy. After complete dissection of the perirenal fat from the kidney, three nonabsorbable sutures were placed between the posterior renal capsule and the psoas muscle. RESULTS: No blood loss nor peri-operative complications have been observed. One month after the procedure, the patient did not complain any pain. Renal color doppler, performed one month after the nephropexy, showed a normalization of resistive index. CONCLUSIONS: Symptomatic nephroptosis is a disease that has been questioned in the past. Nowadays, the modern imaging and functional examination available allow to identify the "true"cases of symptomatic nephroptosis. The treatment with retroperitoneoscopic nephropexy is an easy and effective procedure.

Proposal of an improved prognostic classification for pT3 renal cell carcinoma.

PURPOSE: The prognostic accuracy of the current TNM 2002 staging system for locally advanced renal cell carcinoma has been questioned. To contribute to the development of a more accurate classification for this stage of disease we assessed the correlation between patterns of invasion in the pT3 category and outcomes in a large multi-institutional series. MATERIALS AND METHODS: Pathological data and clinical followup on 513 pT3 renal cell carcinoma cases treated with radical nephrectomy between 1983 and 2005 at 3 Italian academic centers were retrospectively reviewed. Cause specific survival rates were calculated with the Kaplan-Meier method and multivariate analysis was performed using the Cox proportional hazards regression model. RESULTS: Estimated overall 5-year cause specific survival was 50.1% at a median followup of 61.5 months in survivors. The current TNM classification was not a significant outcome prognosticator. Patients with a tumor invading only the perirenal or sinus fat were at lowest risk for death from the disease. Patients at intermediate risk had tumors with invasion of the venous system alone. Simultaneous perirenal fat and sinus fat invasion or perirenal fat and vascular invasion as well as adrenal gland involvement characterized high risk tumors. Low risk tumors could be further divided into 2 groups with different outcomes based on a size cutoff of 7 cm. Our classification was a significant predictor of survival on multivariate analysis as well as M stage, N stage, Fuhrman grade and tumor size. CONCLUSIONS: We confirm that the prognostic usefulness of the current 2002 TNM system for pT3 renal cell carcinoma is limited. We have identified 4 groups of tumors with distinct patterns of invasion and significantly different survival probabilities in this category. Large prospective series are needed to validate these findings.

Extralobar pulmonary sequestration showing high CA 19-19 levels.

We report a case of 40 year-old woman with left thoracic pain who was diagnosed as having a cystic mass located posteriorly at the basis of the left pleural cavity. The preoperative serum CA 19-9 level was increased (2 900 IU/mL). Further investigations did not find neoplastic lesions in the gastrointestinal tract. The intraoperative finding of an anomalous systemic arterial supply to the mass suggested the diagnosis of extralobar sequestration, confirmed at the histopathological examination. The association between pulmonary sequestration and increased tumor markers levels is overlooked in western literature, but it is often reported by many Japanese authors. This case report would underline the practical usefulness for preoperative diagnosis of pulmonary sequestration, when the CT-scan does not demonstrated an anomalous systemic vessel. The common embryogenic origin of both respiratory and digestive apparatus can explain the increased levels of tumor markers such as CA 19-9 and carcinoembryonic antigen in bronchogenic cyst, intestinal duplication and pulmonary sequestration.