[Sex cord tumors with annular tubules: About 4 cases and literature review]. / Les tumeurs des cordons sexuels à tubules annelés : à propos de 4 cas et revue de la littérature.

Sex cord tumor with annular tubules (SCTAT) is a rare ovarian tumor. It belongs to sex cord and stromal tumor of the ovary and represents less than 1% of cases. It includes two forms: the first one associated with Peuz-Jeghers syndrome and the second sporadic. We report 4 cases of SCTAT collected at the department of pathology of Salah Azaiez Institute of Tunis over the 12 last years. The age ranged from 10 to 32 years. Symptoms were non specific except for one case revealed by precocious puberty. One patient had Peutz-Jeghers syndrome associated. Tumors were unilateral. Gross findings showed often a solid tumor with yellow cut surface. Their size ranged from 0.5cm to 28cm. Their morphological features were characteristic. Immunohistochemistry showed that tumor cells expressed inhibin and claretinin. The treatment was surgical, often conservative. The diagnosis of malignancy wasn't focused on histological features, but on tumor extension, clinical course, and presence of metastases. Evolution was often favorable. We also performed a systematic review of the literature that identified 166 cases. Features of these cases were studied. We also compared these features between sporadic and syndromic forms and between benign and malignant forms. In conclusion, SCTAT is a rare tumor, usually benign. Its diagnosis is based on histological examination. There is a malignant potential especially in sporadic forms, estimated at 20%. Treatment is most often conservative, based on oophorectomy.

Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis.

Prenatal diagnosis of neonatal hemochromatosis (NH) is usually raised in front of fetal hepatomegaly and heterogeneous liver architecture. We describe a novel sonographic feature that may be associated with NH. Ultrasound demonstrated reticulonodular liver and distended gallbladder with multiple gallstones in a hydropic fetus. These abnormalities were confirmed to be consistent with NH after correlation with autopsy findings. This case report highlights the value of cholelithiasis in clinical suspicion of NH and the importance to consider this sonographic feature when the liver has abnormal texture.

[Endometrial carcinoma: An histopathological and histoprognotic study about 62 patients in a center in the Tunisian north]. / Les carcinomes de l'endomètre : étude anatomopathologique et histopronostique à propos de 62 cas dans un centre du Nord tunisien.

Endometrial cancer is the most prevalent genital tract cancer in occident and the third most common cancer among women in Tunisia. It is dominated by carcinoma. The identification of prognostic factors allows a better understanding of its outcome and guides its therapeutic approach. We propose to describe the clinicopathological features and identify the histoprognostic factors of this cancer. It is a retrospective analysis of a series of 62 total hysterectomy specimens with bilateral salpingo-oophorectomy from women with primary carcinoma of the endometrium, colligated in Anatomy Laboratory and Pathology Salah Azaiz Institute of Tunis over a period of 5 years, from January 2003 to December 2007. The median age was 60 years. At the time of diagnosis, 25% of patients were nulliparous and 86% were menopaused. The endometrioid adenocarcinoma was the most common, accounting for 84% of cases (5% of them were grade 3). A myometrial invasion superior or equal to 50% was observed in 40% of cases. 42% of cases were classified as stage IA, 14% in stage IB, 16% in stage II, 18% stage III and 10% in stage IV. 22% of patients had nodal involvement. Overall survival at 5 years was 81%. In multivariate analysis, stage IV, nodal involvement and brachytherapy have influenced this rate. Event-free survival at 5 years was 71%. It was directly related to stage and nodal involvement. Stage, histological type, tumor grade, invasion of more than half of the myometrium and lymph node involvement were the most important adverse prognostic factors, dictating an appropriate management of these tumors.

Analysis of prognostic factors of nephroblastoma in a Tunisian cohort.

BACKGROUND: Nephroblastoma is the most common childhood abdominal malignancy. Many studies allowed a better understanding of prognostic factors and they permitted to adapt treatment according to a risk stratification approach. AIM: To assess the most significant factors influencing the survival of patients presenting nephroblastoma. METHODS: We conducted a retrospective study over a 10-year period between 2001 and 2010 including 42 nephrectomy specimens, assessed in the pathology department of Salah Azaiz Institute, from all children diagnosed with nephroblastoma. The tumors were subdivided into histological subtypes and histological risk groups according to the SIOP-2001 classification. Statistical analyses were performed using the Kaplan-Meir and the Cox regression methods. RESULTS: The median age was 38 months. The mixed type was the most common (40% of cases). The tumors were subdivided into intermediate histological risk group (81%) and high risk group (14%). The tumors were classified as stage I (38%), stage II (24%), stage III (9%), stage IV (17%) and stage V (12%). The four-year survival rate was 83% and the event free survival rate was 85%. Age, laterality, histological risk group, tumor volume, blastema volume, stage, capsular rupture and incomplete resection had a significant impact on survival. Predictive factors of relapse were: laterality, tumor volume, blastema volume, histological risk group, stage, capsular rupture and incomplete resection. CONCLUSION: Histological type and stage were identified as the most important prognostic factors in nephroblastoma. Further large studies are needed to establish the impact of absolute blastemal volume.

[Neu-Laxova syndrome: Three case reports and a review of the literature]. / Syndrome de Neu-Laxova : rapport de trois cas et revue de la littérature.

INTRODUCTION: The Neu-Laxova syndrome (NLS) is a rare autosomal recessive and early lethal disorder. It is characterized by severe intra-uterine growth retardation, abnormal facial features, ichthyotic skin lesions and severe central nervous system malformations, especially microlissencephaly. Others characteristic features associated with fetal hypokinesia sequence, including arthrogryposis, subcutaneous edema and pulmonary hypoplasia, are frequently reported in NLS. PATIENTS AND METHODS: The clinicopathological characteristics of NLS are described in three cases with striking prenatal diagnostic findings and detailed post-mortem examinations. A review of the literature is undertaken with a focus on molecular basis. RESULTS: We present three new patients with NLS: one stillbirth male and two female newborns, delivered at 29, 35 and 40 weeks of gestational age, respectively. Characteristic ultrasound findings included hydramnios, severe intra-uterine growth restriction, craniofacial and cental nervous system anomalies. The cytogenetic study, performed in one case, was normal. The post-mortem examination revealed characteristic abnormalities in all three cases, that allowed to make a prompt diagnosis of the NLS. Data from these patients suggest that the NLS represents a heterogeneous phenotype. This feature has been highlighted in the literature. CONCLUSION: The SNL is a lethal developmental disorder characterized by phenotypic heterogeneity with striking neurological defects. It is underpinned by genetic heterogeneity. It can be caused by mutations in all three genes involved in de novo L-serine biosynthesis: PHGDH, PSAT1 and PSPH. Hence, the NLS constitutes the most severe end of already known human disease, i.e. serine-deficiency disorder.

A Late Recurrent Metastatic Breast Cancer Mimicking Primary Pancreatic Cancer: Case Report.

Metastasis to the pancreas from malignant tumors is a rare event, representing only 1% to 2% of all pancreatic neoplasms. They occur in 2 different clinicopathological settings: as a manifestation in widespread metastatic disease or as an isolated mass in the pancreas. We report the case of a 41-year-old woman who had a history of invasive lobular breast cancer treated with radical surgery, chemotherapy, and radiotherapy. After 21 years of total remission, she presented for severe lower back pain with jaundice, nausea, and loss of 9 kg in 3 months. Abdominal computed tomography demonstrated a hyper vascularized, irregular solid lesion of 2.6 cm × 2.1 cm in the head of the pancreas with discreet biliary duct dilatation and coelio-mesenteric enlarged lymph nodes measuring 2 cm. The diagnosis of pancreatic metastasis from a lobular breast carcinoma was made by percutaneous biopsy of pancreatic lesion. The multidisciplinary committee decided a palliative treatment. The patient received chemotherapy. The take home message from his case is that we should keep in mind the hypothesis of a solitary metastasis to the pancreas, when the pancreatic lesion develops in a patient who had a clinical history of previous neoplasm especially in those which is known to potentially metastasize to pancreas.

An isolated vaginal metastasis from rectal cancer: a case report.

INTRODUCTION: Vaginal metastasis from colorectal cancer is a rare occurrence, typically associated with other metastatic lesions. Isolated metastasis is exceedingly uncommon, with only a few cases documented in the literature. Vaginal involvement in colorectal cancer primarily results from direct contiguous spread from the primary tumor. CASE PRESENTATION: We present the case of a 70-year-old African woman diagnosed with adenocarcinoma of the middle rectum. She underwent chemotherapy, radiotherapy, and subsequent anterior resection. After 2 months, an isolated metastasis of rectal cancer was identified in the lower third of the left vaginal wall, confirmed by biopsy. Colonoscopy ruled out colorectal recurrence. Thoraco-abdominal computed tomography scan showed no distant metastases. The patient underwent abdominoperineal resection, removing the lateral and posterior vaginal wall with free macroscopic margins and a definitive colostomy. The final histopathological analysis confirmed the diagnosis of moderately differentiated adenocarcinoma of the vagina, measuring 5 × 4.5 cm. The rectal wall was extrinsically invaded by the tumor down to the muscularis propria while respecting the rectal mucosa. Resection margins were negative. The patient was discharged 1 week postoperation with no complications. Adjuvant chemotherapy was indicated, and the patient is currently tolerating the treatment well. CONCLUSION: Vaginal metastases from colorectal cancer are extremely rare. A vigilant gynecological examination is recommended during the follow-up of colorectal cancer patients. Diagnosis can be challenging, especially if the metastatic lesion is small and asymptomatic, even after standard radiological examination. Surgical resection followed by chemotherapy is a valid option for patients with early isolated metastases.

Exceptional lymph node recurrence of an unusual ovarian tumor 16 years later: a case report.

BACKGROUND: Sex cord-stromal tumors with annular tubules are a rare tumor accounting for less than 1% of all ovarian malignancies. However, they are characterized by very late recurrence, which can be as late as 30 years after diagnosis and treatment. CASE PRESENTATION: A 16-year-old female Caucasian patient was treated in our department for a stage IA ovarian sex cord-stromal tumors with annular tubules. She underwent a left salpingo-oophorectomy and ipsilateral pelvic node biopsy with no adjuvant treatment. She was seen for amenorrhea after being lost to follow up for 16 years. The diagnosis of recurrence was made by radiology and the elevation of serum inhibin B level. The patient underwent resection of the tumor, left segmental colectomy, and paraaortic lymphadenectomy because the mass was massively adherent to the left mesocolon. Histology confirmed the diagnosis with no metastatic lymph nodes. No adjuvant therapy was indicated. The patient was lost to follow-up again for 4 years and re-presented for amenorrhea. Serum inhibin B level was high. A second recurrence was suggested, and the patient underwent a laparoscopic surgery. We performed left pelvic and paraaortic lymphadenectomy, and 3 months after surgery the patient was pregnant. CONCLUSION: Sex cord-stromal tumors with annular tubules is a slow-growing ovarian tumor with a high potential for recurrence and metastasis. Surgery is the mainstay of treatment. Due to the rarity of these tumors, they are often unsuspected and thus incompletely staged before primary surgery; the diagnosis is made by histological examination. The prognosis of these patients is unknown, and they require long-term follow-up.

Cutaneous metastasis as a first presentation of lung carcinoma: a case series.

INTRODUCTION: Cutaneous metastases (CM) revealing lung carcinoma are extremely rare, accounting for 0.8%. The diagnosis is guided by histology and immunohistochemistry. Treatment is palliative. The prognosis is poor. CASE PRESENTATION: This is a retrospective study of the available clinical and histological records of four North African patients with CM revealing lung cancer treated at our institute between 2004 and 2010. Three men and one woman were registered. The mean age was 54.5 years (38-74 years). Two patients had primary adenocarcinoma, one patient had small cell carcinoma and one had squamous cell carcinoma. Treatment was based on chemotherapy in two cases and antalgic radiotherapy in two cases, one patient underwent surgical resection as the lesion was infected. The overall survival after diagnosis was between one and four months. CONCLUSIONS: A skin nodule can be the first symptom revealing lung cancer. A rare clinical presentation that should not be taken for a benign nodule, the biopsy and histological study with immunohistochemistry confirm the diagnosis.

A primary hepatic lymphoma in a patient with Crohn's disease receiving thiopurine and anti-TNF therapy: a case report.

Primary hepatic lymphoma is a rare variant of non-Hodgkin's lymphoma with an incidence of 0.016% of all non-Hodgkin lymphomas. The most common histologic subtype is large diffuse B-cell lymphoma. Pathogenesis is not clearly established and undergoing immunosuppressive therapy has been proposed as a risk factor for primary hepatic lymphoma. We report an intriguing case study, featuring a 23-year-old male patient with Crohn's Disease who had been receiving a combination therapy of thiopurine and anti-TNF for 6 years and was diagnosed with primary hepatic diffuse large B-cell lymphoma.

Primary hepatic lymphoma is a rare type of cancer that mostly affects the liver and accounts for less than 1% of all lymphoma cases. The exact cause of primary hepatic lymphoma is unknown, but some evidence suggests that immunosuppressive therapy may increase the risk of developing this condition. We present a 23-year-old male patient who has a six-year history of Crohn's Disease, which is a long-lasting condition that causes inflammation. To manage his symptoms, he was taking two types of medications that weaken the immune system (thiopurine and anti-TNF medications). While being treated for Crohn's disease, he was also diagnosed with a rare type of primary hepatic lymphoma. This case raises intriguing questions about the relationship between immunosuppressive therapy and the development of primary hepatic lymphoma. It emphasizes the need for further research to better understand the underlying mechanisms and identify potential risk factors.

Meta-analysis of HLA-G 14bp insertion/deletion polymorphism and soluble HLA-G revealed an association with digestive cancers initiation and prognosis.

Background/Objective: Conflicting results on the association between HLA-G and digestive cancers were reported. We conducted a meta-analysis to further investigate the true relationship between HLA-G and digestive cancers (DC). Methods: Following PRISMA guidelines, we performed a meta-analysis including 7 case-control studies on HLA-G 14-bp Insertion/deletion (I/D) polymorphism, and 15 studies on soluble HLA-G (sHLA-G). Odds ratios (OR) and their corresponding 95% confidence intervals (CI) for genetic polymorphisms were calculated. The pooled OR was calculated under three genetic models: allelic, recessive, and dominant models. Concerning sHLA-G meta-analysis, standardized mean differences (SMDs) were calculated. Results: The HLA-G 14-bp I/D was not associated with the risk of DC. However, in the subset of HBV/HCV positive hepato-cellular cancer (HCC) patients, we reported a significant association of HLA-G 14-bp I/D with the disease initiation under allelic (D vs. I; OR = 1.698, 95% CI = 1.263-2.282, p = 0.000), dominant (DD + ID vs. II; OR = 2.321, 95% CI = 1.277-4.218, p = 0.006)and recessive (DD vs. DI + II; OR = 1.739, 95% CI = 1.173-2.577, p = 0.006) genetic models. Interestingly, HLA-G 14-bp I/D was not associated with the disease initiation in HBV/HCV negative HCC patients. However, the infection by HBV/HCV seems to be implicated in the HCC development when we compared HBV/HCV positive patients to HBV/HCV negative patients under allelic (D vs. I; OR = 1.429, 95% CI = 1.029-1.983, p = 0.033, and dominant (DD + ID vs.II; OR = 1.981, 95% CI = 1.002-3.916, p = 0.049) genetic models.Overall analysis of DC showed significant increased sHLA-G in patients compared to healthy controls (SMD = 3.341, 95% CI = 2.415-4.267, p = 0.000). In Asian patients with gastric cancer, sHLA-G was significantly increased in grade 3 compared to low grades (SMD = 0.448, 95% CI = 0.109-0.787, p = 0.000). Further analysis showed that sHLA-G was significantly increased in positive DC vascular invasion (SMD = 0.743, 95% CI = 0.385-1.100, p = 0.000). Accordingly, sHLA-G was associated with a poor prognosis for DC. Conclusion: The current meta-analysis supports the significant role of HLA-G in DC. The HLA-G 14-bp I/D polymorphism was associated with HCC patients with concomitant HBV/HCV viral infections. Increased sHLA-G indicated a poor prognosis for DC cancer patients.

The relationship of 3'UTR HLA-G14-bp insertion/deletion and +3142 C/G polymorphisms and soluble HLA-G expression with gynecological cancers: An updated meta-analysis.

OBJECTIVES: Human leukocyte antigen-G (HLA-G) is implicated in several cancers and is considered to be an immune checkpoint regulator. We determined the association between polymorphisms in the 3' untranslated region of HLA-G and soluble HLA-G (sHLA-G) expression with gynecological cancers (GCs). METHODS: A meta-analysis was conducted to examine the association between HLA-G14-bp insertion (I)/deletion (D) and +3142C/G polymorphism in GC and to evaluate sHLA-G expression RESULTS: We revealed a significant association between the +3142C/G polymorphism and invasive cervical cancer (ICC) based on the allelic model G versus C (odds ratio [OR] = 0.738, 95% confidence interval [CI] = 0.563-0.966, p = 0.027), dominant GG+GC versus CC (OR = 0.584, 95% CI = 0.395-0.862, p = 0.007), and codominant GG versus CC (OR = 0.527, 95% CI = 0.312-0.891, p = 0.017) models, suggesting that the G allele and GG genotype are protective against ICC. In gynecological precancerous patients with human papillomavirus (HPV) infection, we found that the 14-bp I/D under the codominant DD versus DI model (OR = 0.492, 95% CI = 0.241-1.004, p = 0.051) was of borderline significance. Soluble HLA-G levels were significantly higher in patients compared with healthy controls (standardized mean differences [SMD] = 1.434, 95% CI = 0.442-2.526, p = 0.005). Stratification by cancer type revealed that the sHLA-G levels were significantly increased in cervical cancer (SMD = 4.889, 95% CI = 0.468-9.310, p = 0.030) and in subjects of Asian ethnicity (SMD = 4.889, 95% CI = 0.467-9.309, p = 0.030). CONCLUSIONS: HLA-G14-bp I/D and +3142 C/G polymorphisms are associated with GC and HPV-associated cervical cancer. In addition, we found significantly increased sHLA-G levels in cancer patients. These results provide a basis for further studies in diagnostics and immunotherapy of GC.

3'UTR-HLA-G polymorphisms and circulating sHLA-G are associated with breast cancer: Evidence from a meta-analysis.

BACKGROUND: Human leukocyte antigen-G (HLA-G) gene polymorphisms and circulating sHLA-G have often been linked to the risk of breast cancer (BC). However, the results remain controversial. To resolve this issue, we performed a meta-analysis of HLA-G gene polymorphisms and sHLA-G levels in BC. METHODS: We performed a meta-analysis on the association of HLA-G 14-bp Insertion/Deletion (Ins/Del) and HLA-G +3142 C/G polymorphisms with BC as well as the relationship between sHLA-G and the disease outcome. RESULTS: Pooled analysis showed a statistically significant association between the HLA-G 14-bp Ins/Del polymorphism and BC susceptibility for the overall population and for Caucasians. The Del allele and genotypes with at least one copy of the Del allele presented significant risks for BC. For HLA-G +3142 C/G polymorphism, the G allele significantly decreased the risk of BC for the overall population and for Caucasians, indicating that the G allele was a protective factor against BC and that the C allele was a significant risk factor for BC. The meta-analysis revealed a significantly increased level of sHLA-G patients with BC compared to the control group for the overall population, Caucasians and Asians. CONCLUSION: The present meta-analysis showed a major association of both HLA-G 14-bp Ins/Del and +3142 C/G polymorphisms with BC susceptibility, suggesting Del and C variants as highly significant risk factors for BC. The present study also showed significantly higher sHLA-G levels in patients with BC compared to healthy controls. Our pooled results suggested a critical role of HLA-G in BC, thereby providing evidence to use HLA-G as a biomarker and a therapeutic tool.

Puzzling hepatic tumor: Epithelioid angiomyolipoma.

Hepatic epithelioid angiomyolipomas are uncommon mesenchymal neoplasms. They are difficult to diagnose by imaging, especially when the fatty component is scant or absent. The gold standard for the diagnosis is histologic examination coupled with an immunohistochemical study. Positive HMB45 immunostaining of the myoid cells is a major diagnostic feature.

Preoperative Intralesional Bevacizumab Injection in Primary Pterygium in Tunisian Patients: A Randomized Controlled Prospective Study.

Purpose: To assess the efficacy and safety of a single preoperative intralesional bevacizumab injection as an adjuvant treatment before primary pterygium surgery. Methods: We conducted a randomized controlled interventional study from January 2019 to December 2020. The study included a total of 60 patients (60 eyes) with primary pterygium. We defined two groups of 30 patients each. Group A received an intralesional injection of bevacizumab (Avastin), 1 month before surgery (lesion excision and conjunctival autograft). Group B (control) had only the surgical treatment. Patients were followed up 7 days (D7), 1 month (M1), 3 months (M3), and 6 months (M6) postoperatively. Pre-, per-, and postoperatively, photographs of the lesions were taken, as well as a histopathological examination. The main outcome measures were the change in functional discomfort following intralesional bevacizumab injection and pterygium recurrence. Recurrence was defined as fibrovascular tissue growth invading the cornea. Therapeutic success was defined as the absence of pterygium recurrence in M6. Results: The mean age of the 60 patients was 54.17 ± 10.53. After bevacizumab injection, the preoperative functional discomfort score decreased significantly (P = 0.048). There was a significant improvement in grade and color intensity (P = 0.001). We noted no local nor systemic complications after intralesional injection of bevacizumab. After pterygium excision, the success rate was statistically higher in Group A (P = 0.047). There was no significant difference in either final best-corrected spectral visual acuity or astigmatism between the two groups. We noted a statistically significant association between recurrence and color intensity (P = 0.046), vascular density (P = 0.049), and the degree of elastic tissue degeneration (P = 0.040). Conclusion: A single preoperative subconjunctival injection of bevacizumab 1 month before surgery decreases the vascularity of newly formed blood vessels and hence may reduce the recurrence rate.