Male ductal carcinoma in situ: diagnosis and management of a rare disease in men.

Ductal carcinoma in situ is very rare in male patients, accounting for approximately 5%-7% of all male breast cancers. We present a case of a man in his early 70s who presented with bloody nipple discharge and gynaecomastia and was subsequently diagnosed with ductal carcinoma in situ (DCIS). We discuss his management with surgical resection and the consideration of adjuvant treatment. We also review the existing literature on the presentation, diagnosis and management of DCIS in men.

Raine's syndrome: rare disease from neurosurgical perspective.

Raine's syndrome (RS) is a rare genetic disorder. Only 25 cases are in literature. Occurs due to genetic mutation resulting in deranged bone metabolism. Few cases are reported discussing the neurosurgical ramifications of the disease. We report a child diagnosed with RS. He was presented with multisutural synostosis requiring craniofacial intervention with two vault expansions. Additionally, required VP shunt due to hydrocephalus. We consider our case unique among reports of RS, as our patient has survived for 10. He died due to valve obstruction of the VP shunt. We also present a review of relevant medical literature.

Corneal neurotization in the management of neurotrophic keratopathy: A review of the literature.

Neurotrophic keratopathy (NK) is a rare degenerative disease in which damage to the corneal nerves leads to corneal hypoesthesia or anesthesia. Neurotrophic corneal ulcers are notoriously difficult to treat and can lead to blindness. Corneal neurotization (CN) is a recent surgical technique aimed at restoring corneal sensation and may offer a definitive treatment in the wake of NK. Herein, we review the surgical techniques utilized in direct and indirect CN. Technical considerations, outcomes, current limitations and future perspectives are also discussed. This article highlights the key points of this promising procedure and biological aspects that will help provide the best treatment options for patients with severe NK.

Long anterior lens zonules with retinal stripes: a case report.

BACKGROUND: Long anterior lens zonules (LAZs) is a rare disease that was mostly conducted among African Americans. Through the observation of a Chinese patient, we discoverd that the disease may show different characteristics in Asians. CASE PRESENTATION: A patient with vision loss due to a macular hole was found to have several special clinical signs during vitrectomy combined with phacoemulsification and intraocular lens implantation surgery in our hospital, including radially oriented lines on the anterior capsule with pigment, a shallow anterior chamber, slightly high intraocular pressure, and radial retinal stripes in the peripheral retina. Finally, he was diagnosed with long anterior lens zonule syndrome. CONCLUSION: Clinicians need to pay more attention to the rare disease LAZs. It is important to tear the appropriate size of the anterior capsule so as to avoid radial capsular tearing and intraocular lens dislocation.

Simultaneous bilateral fallopian tubal pregnancy of a laparoscopic definite spontaneous unilateral ovulation: a case report.

BACKGROUND: Bilateral simultaneous fallopian tubal pregnancy is one of the rarest forms of ectopic pregnancy. Due to the lack of unique features and clinical presentation to distinguish bilateral from unilateral ectopic pregnancy, challenges the diagnosis. CASE REPORT: A 27-year-old Asian woman presented with pelvic pain and vaginal bleeding. Pelvic transvaginal ultrasound showed fluid in Douglas Pouch and posterior fornix puncture revealed unclotted blood. Laparoscopic examination unveiled bilateral ectopic pregnancy with two corpus luteum visible in the right ovary, suggesting a double spontaneous unilateral ovulation. Bilateral fallopian tube fenestration and embryo extraction were performed to preserve fertility. CONCLUSION: Diagnosis of bilateral tubal pregnancy is difficult during preoperative ultrasound examination and careful examination during laparoscopic inspection of the whole pelvic cavity to avoid missed diagnosis.

Treatment and follow-up of rare testis tumours.

PURPOSE: To provide recommendations for the follow-up of rare, clinically localised testis tumours, including Leydig, Sertoli or granulosa cell and spermatocytic tumours. METHODS: Medline and Embase searches to identify published clinical trials, cohort studies, reviews, clinical practise guidelines and meta-analyses to design expert opinion-based follow-up schedules. RESULTS: In four different systematic reviews, we previously identified 1375 men with Leydig, 435 with Sertoli, 239 with granulosa cell lesions and 146 with spermatocytic tumours. Local recurrence after testis-sparing surgery (TSS) was observed in 7%, < 1% and 5% of men with Leydig, Sertoli and granulosa cell tumours: no reports were available regarding recurrence after TSS in men with spermatocytic tumours. Distant recurrence was observed in 6%, 4%, 4% and 7% of the first four tumour types, respectively: metastasis was never reported in granulosa cell tumours of juvenile type. For patients with metastatic disease, complete response after surgical resection was reported in 10%, 18%, 43% and 4%. Complete response after chemotherapy was reported in 5%, 0%, 29% and 4%. There was no report of patients responding to radiotherapy alone. CONCLUSIONS: We have collated the existing data about local and distant recurrence and response to treatment in men with rare testicular tumours and propose new recommendations for follow-up with cross-sectional imaging, stratified for each histological subtype.

Role of radiotherapy in the management of vulvar cancer: Recommendations of the French society for radiation oncology.

Primary vulvar carcinomas are rare gynaecological cancers, for which surgery is the mainstay of treatment. There is however a major place for external beam radiotherapy in the situation of inoperable locally advanced tumours and/or as adjuvant therapy, when there are risk factors for locoregional relapse. We present the recommendations of the French society for radiation oncology on the indications and techniques for radiotherapy in the treatment of primary vulvar cancer.

Anastomotic leakage and chronic presacral sinus after transanal total mesorectal excision (taTME) for rectal cancer: A comparative study to laparoscopic TME.

BACKGROUND: Several studies have shown that there are no significant differences in anastomotic leakage associated with Transanal total mesorectal excision (taTME) versus laparoscopic TME (lapTME) for rectal cancer; however, little is known about late anastomotic leakage, such as that primarily found in the chronic presacral sinus. We aimed to compare the occurrence of anastomotic leakage and chronic presacral sinus in rectal cancer for taTME and lapTME. METHODS: In this retrospective cohort study, data were collected for patients with rectal cancer who underwent surgery between January 2009 and September 2019. Of the 220 patients included in this study, 182 were in the lapTME group and 38 in the taTME group. We compared factors associated with anastomotic leakage and chronic presacral sinus formation between the two groups. A binary-logistic model was used to determine the risk factors for chronic presacral sinus. RESULTS: Anastomotic leakage occurred in six patients (15.8%) in the taTME group and 36 patients (19.7%) in the lapTME group. Chronic presacral sinus occurred in three patients (7.9%) in the taTME group and 15 patients (8.2%) in the lapTME group. There was no significant difference in anastomotic leakage or chronic presacral sinus between groups (P = 0.569 and P = 1.000, respectively). Pathologic stage III or higher was significantly associated with chronic presacral sinus formation (P = 0.006). CONCLUSION: There were no significant differences between taTME and lapTME regarding the incidence of anastomotic leakage or chronic presacral sinus. Almost one-third of anastomotic leakages developed into chronic presacral sinus.

Accuracy of Transurethral Resection of the Bladder in Detecting Variant Histology of Bladder Cancer Compared with Radical Cystectomy.

BACKGROUND: Correct identification of variant histologies (VHs) of bladder cancer (BCa) at transurethral resection of the bladder (TURB) could drive the subsequent treatment. OBJECTIVE: To evaluate the concordance in detecting VHs between TURB and radical cystectomy (RC) specimens in BCa patients. DESIGN, SETTING, AND PARTICIPANTS: We retrospectively analyzed 1881 BCa patients who underwent TURB and subsequent RC at seven tertiary care centers between 1980 and 2018. VHs were classified as sarcomatoid, lymphoepithelioma-like, neuroendocrine, squamous, micropapillary, glandular, adenocarcinoma, nested, and other variants. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Concordance between TURB and RC was defined as the ability to achieve histological subtypes at TURB confirmed at RC specimen, and was expressed according to Cohen's kappa coefficient. RESULTS AND LIMITATIONS: Of the patients, 14.6% and 21% were diagnosed with VH at TURB and RC specimens, respectively. The most common VHs at TURB were squamous, neuroendocrine, and micropapillary carcinoma (5.2%, 1.5%, and 1.5%, respectively). At RC, the most frequent VHs were squamous, micropapillary, and sarcomatoid carcinoma (7.2%, 3.0%, and 2.7%, respectively). The overall concordance in detecting VH was defined as slight concordance (coefficient: 0.18). Moderate concordance was found for neuroendocrine, adenocarcinoma, and squamous carcinoma (coefficient: 0.49, 0.47, and 0.41, respectively). Micropapillary, glandular, and other variants showed slight concordance (coefficient: 0.05, 0.17, and 0.12, respectively), while nested and sarcomatoid carcinoma showed fair concordance (coefficient: 0.32 and 0.26, respectively). Results may be limited by the absence of centralized pathological analysis. CONCLUSIONS: A non-negligible percentage of patients were diagnosed with VH at both TURB and RC. TURB showed relatively low accuracy, ranging from poor to moderate, in detecting VHs. Our study underlines the need of additional diagnostic tools in order to identify VHs properly at precystectomy time and to improve patient survival outcomes. PATIENT SUMMARY: In this report, we underlined the low accuracy of transurethral resection of the bladder in detecting variant histologies and the need for additional diagnostic tools.

Combined stoma reversal and liver resection for rectal metastatic cancer: A single center retrospective analysis.

GOAL OF THE STUDY: Concomitant liver metastases are discovered at the time of diagnosis in 25% of patients with colorectal cancers. The appropriate time to restore digestive continuity after stoma creation during rectal surgery has not yet been established. The objective of this study is to assess the morbidity of stoma reversal during the secondary hepatectomy procedure. PATIENTS AND METHODS: This was a single-center retrospective case-control study including patients who underwent ileostomy or colostomy reversal by a direct approach (REVERSAL group) compared to those who did not undergo stoma reversal (NON-REVERSAL group) during hepatic resection of rectal cancer metastasis between 2004 and 2016. Peri-operative data were collected. The primary outcome measure was the comprehensive complication index (CCI). The secondary outcomes were overall mortality, liver-related morbidity, duration of hospital stay and occurrence of gastrointestinal leaks. Statistical analysis was carried out using SPSS 23.0 software. RESULTS: Thirty liver resections were included; 14 in the REVERSAL group (female/male=11/19, age=60 years). No statistically significant difference was observed in the CCI scores (15 vs. 20.8; P=0.6). Complications occurred in 9 (64%) and 8 (50%) patients in the REVERSAL and NON-REVERSAL groups, respectively (P=0.48). No gastro-intestinal leaks or post-operative mortality occurred. CONCLUSION: Stoma reversal during hepatectomy for liver metastasis from a primary rectal cancer represents a safe alternative since post-operative outcome was not associated with additional morbidity in this series.

Molecular Characterization of Inflammatory Tumors Facilitates Initiation of Effective Therapy.

Inflammatory myofibroblastic tumor (IMT) is a rare, mesenchymal tumor that has an increased incidence in childhood. Tumors are usually isolated to the chest, abdomen, and retroperitoneum, but metastatic presentations can be seen. Presenting symptoms are nonspecific and include fever, weight loss, pain, shortness of breath, and cough. Approximately 85% of IMTs harbor actionable kinase fusions. The diagnosis can be delayed because of overlapping features with inflammatory disorders, such as elevated inflammatory markers, increased immunoglobin G levels, fever, weight loss, and morphologic similarity with nonmalignant conditions. We present a girl aged 11 years with a TFG-ROS1 fusion-positive tumor of the lung that was initially diagnosed as an immunoglobin G4-related inflammatory pseudotumor. She underwent complete left-sided pneumonectomy and later recurred with widely metastatic disease. We then report the case of a boy aged 9 years with widely metastatic TFG-ROS1 fusion-positive IMT with rapid molecular diagnosis. In both children, there was an excellent response to oral targeted therapy. These cases reveal that rapid molecular testing of inflammatory tumors is not only important for diagnosis but also reveals therapeutic opportunities. Targeted inhibitors produce significant radiologic responses, enabling potentially curative treatment approaches for metastatic ROS1 fusion IMT with previously limited treatment options. Primary care pediatricians and pediatric subspecialists have a crucial role in the early consultation of a pediatric oncology center experienced in molecular diagnostics to facilitate a comprehensive evaluation for children with inflammatory tumors.

[Acute localized dissection of the descending thoracic aorta: A diagnostic trap]. / La dissection aiguë localisée de l'aorte thoracique descendante : un piège diagnostique.

Localized dissection of the descending thoracic aorta; class 3 of the classification proposed by the European Society of Cardiology; is a short and limited length dissection involving the descending thoracic aorta. It is a rare and unrecognized variant that poses a clinical and radiological diagnostic challenge. Indeed, it is manifested by an aspecific clinical profile represented by the acute aortic syndrome and characterized by a confused radiological aspect that entangled with the other differential diagnoses. We would like to emphasize the rarity of this uncommon pathology and the difficulty encountered in defining it based on a case treated in our department and a review of the literature.

Imaging features and radiologic-pathologic correlations of inflammatory pseudotumor-like follicular dendritic cell sarcoma.

BACKGROUND: Inflammatory pseudotumor-like follicular dendritic cell sarcoma (IPT-like FDCS) is a rare tumor. This study aimed to reveal the radiological characteristics of IPT-like FDCS by radiologic-pathologic correlation. RESULTS: We analyzed two cases of IPT-like FDCS in the liver, nine in the spleen, and two in both the liver and spleen concomitantly. IPT-like FDCS presented as well-defined iso- or hypodense masses on unenhanced computed tomography (CT) images in both the liver and spleen. Hyperintensities on T1-weighted images and hypointensities on T2-weighted images with hypointense rings were characteristic features in splenic cases. "Halo signs" were observed in two out of three liver tumors. Hepatic lesions showed significant enhancement, whereas splenic lesions showed only mild enhancement. Delayed annular enhancement was observed in both liver and spleen cases. On ultrasonographic examination, IPT-like FDCS presented as hypoechoic lesions with enhancement similar to that observed on CT. Hyaline fibrous pseudocapsules, which correlated with the hypointensities on T2-weighted images, were microscopically observed at the tumor edge. IPT-like FDCS was characterized by an abundance of small blood vessels and capillaries. Capillaries were also found in the fibrous capsule of some IPT-like FDCSs, which may explain the delayed annular enhancement. CONCLUSIONS: The manifestations of IPT-like FDCS in the liver and spleen showed differences that warrant them to be approached differently during diagnosis. Characteristic radiological findings of IPT-like FDCS included different enhancement patterns between liver and spleen tumors and rim-like hypointensities on T2-weighted images, as well as annular enhancement on CT and magnetic resonance images. These imaging features correlated with tumor pathology.

Total Hip Replacements in Patients with Rare Pathologic Conditions Affecting Bone.

➤: As a result of the advances in surgical technique and implant design, total hip arthroplasty (THA) is increasingly offered for the management of osteoarthritis of the hip in patients with fragile or pathologic bone. ➤: Posttraumatic or congenital deformities associated with fragile or pathologic bone are frequently encountered and necessitate diligent preoperative planning. ➤: Surgeons should be prepared to evaluate and manage intraoperative iatrogenic fracture. ➤: While there is limited evidence to date, components made with computer-assisted design can be considered, given the unique and highly variable patient population.

Rare cause of acute abdomen-cocaine-induced small intestinal perforation with coexisting lower gastrointestinal bleed: an unusual presentation.

Cocaine, an alkaloid, is an addictive drug and its abuse as a recreational drug is on the increasing side with its associated complications. Gastrointestinal complications, after cocaine abuse, are less known and need to be addressed since the abuse is on the rise and the existing evidence is scarce. We report a case of a 22-year-old male patient who presented with abdominal pain following a cocaine injection. On examination, signs of peritonitis were noted and laparotomy revealed a 2×1 cm perforation in the distal ileum. The unhealthy intestinal segment was resected and taken out as a double-barrel ileostomy. The patient had an episode of severe lower gastrointestinal bleeding on postoperative day 6. CT and colonoscopy revealed signs of ischaemic bowel and tissue biopsy showed oedematous, inflamed and haemorrhagic bowel mucosa. The patient was managed conservatively and is doing well under follow-up in a de-addiction centre.

Appendiceal hernia: an extremely rare condition.

Appendix-associated hernias are extremely rare. They have been described sporadically in the literature, mostly as inguinal hernias. Appendix-associated incisional hernias are even more unusual. High clinical awareness is needed as complications can arise if misdiagnosis or delay occurs. We present an 80-year-old man with acute appendicitis in an incisional hernia. After successful surgery, the patient made a full recovery.

Angiosarcoma associated with radiation therapy after treatment of breast cancer. Retrospective study on ten years.

PURPOSE: The breast sarcoma induced by radiation therapy is rare but increasing, given the increased long-term survival of patients receiving radiation therapy. Fibrosarcoma, histiocytofibroma and angiosarcoma are the most common breast sarcoma. Angiosarcoma is the most common after breast cancer treated by radiation therapy, often diagnosed too late, with a severe prognosis and a high rate of recurrence. However, because of the low incidence of angiosarcoma associated with radiation therapy (AAR), the benefit of radiation therapy in breast cancer treatment outweighs the risk to develop angiosarcoma. The aim of this study is to evaluate these rare cases of AAR diagnosed in eastern Belgium in comparison to the data from the literature. PATIENTS AND METHODS: Nine cases of AAR after radiation for breast ductal carcinoma were included in this retrospective study. AAR was diagnosed according to Cahan criteria between January 2007 and December 2016. Latency, incidence, management and prognosis are comparable to the literature. RESULTS, CONCLUSION: The median latency was 10 (4-24) years, the incidence of AAR in the East Belgian area was 0.09% of the patients irradiated on the same period. Patients were treated by surgery with wide local excision with or without reconstructive surgery, without radiotherapy and chemotherapy treatment. Kaplan-Meier analysis showed median overall survival of 61.8 months, patient survival of 55.6% at one year and 29.6% at five years. With the constant progress of medicine and its technologies, it would be possible to limit the occurrence of AAR or to diagnose it at an earlier stage.