Differential response of HER2-positive breast cancer to anti-HER2 therapy based on HER2 protein expression level.

BACKGROUND: Increasing data indicate that HER2-positive (HER2 + ) breast cancer (BC) subtypes exhibit differential responses to targeted anti-HER2 therapy. This study aims to investigate these differences and the potential underlying molecular mechanisms. METHODS: A large cohort of BC patients (n = 7390) was utilised. The clinicopathological characteristics and differential gene expression (DGE) of HER2+ immunohistochemical (IHC) subtypes, specifically HER2 IHC 3+ and IHC 2 + /Amplified, were assessed and correlated with pathological complete response (pCR) and survival in the neoadjuvant and adjuvant settings, respectively. The role of oestrogen receptor (ER) status was also investigated. RESULTS: Compared to HER2 IHC 3+ tumours, BC patients with IHC 2 + /Amplified showed a significantly lower pCR rate (22% versus 57%, P < 0.001), shorter survival regardless of HER2 gene copy number, were less classified as HER2 enriched, and enriched for trastuzumab resistance and ER signalling pathway genes. ER positivity significantly decreased response to anti-HER2 therapy in IHC 2 + /Amplified, but not in IHC 3 + BC patients. CONCLUSION: In HER2 + BC, overexpression of HER2 protein is the driver of the oncogenic pathway, and it is the main predictor of response to anti-HER2 therapy. ER signalling pathways are more dominant in BC with equivocal HER2 expression. personalised anti-HER2 therapy based on IHC classes should be considered.

The prevalence of CCR5-Δ32 mutation in a cohort of Saudi stem cell donors.

CCR5 is a chemokine receptor that was found to be used by HIV as a co-receptor for entering target cells. A 32 bp deletion was described in certain people that rendered CCR5 non-functional. The mutant allele CCR5-Δ32 has been shown to prevent HIV infection. In addition, stem cell transplantation with the CCR5-Δ32 homozygous genotype can lead to clearance of HIV infection. In this study, our aim was to investigate the frequency of CCR5-Δ32 mutation in a cohort of stem cell donors from cord blood bank and stem cell donor registry. A total of 3025 samples were collected from healthy stem cell donors (2625) and from cord blood units (400). DNA was extracted and the CCR5 gene was amplified by polymerase chain reaction (PCR) in a light cycler system using SYBR Green dye. The mutated gene was further confirmed by direct gene sequencing. We found 38 heterozygous for CCR5-Δ32 and one homozygous CCR5 mutation (Δ32/Δ32) out of the 3025 tested individuals. We conclude that the protective CCR5-Δ32 allele appears to be rarely present in Saudi Arabia.

Osteosarcomatosis with Rothmund-Thomson syndrome.

We describe the second reported case of multicentric osteosarcoma associated with Rothmund-Thomson syndrome (RTS), a rare hereditary cancer-prone genodermatosis characterized by typical cutaneous lesions and other non-dermatological pathological manifestations, particularly skeletal changes. A high incidence of malignant disorders has been found in RTS patients. This could be explained by the diminished capacity of DNA-repair demonstrated in the fibroblasts of RTS patients following exposure to oncogenic stimuli. The severe cutaneous lesions and the benign bone lesions found in RTS may be considered a predisposing factor to the particularly frequent skin carcinoma and osteogenic sarcoma encountered in these cancer-prone patients. A brief review of the literature is given, with a discussion of the association between these two rare conditions.

Emergency arteriography in the assessment of penetrating trauma to the lower limbs.

One hundred emergency arteriographies (EA) were performed in 87 patients with lower limb trauma due to high-velocity missiles. Thirteen patients had bilateral injuries. In 79 cases, EA findings were positive and led to emergency surgery. In 76 cases an arterial injury was found and treated, a positive predictive value of 96% (76/79). In the other 3 cases, no arterial lesion was found (3 false positives). Among the 21 patients with normal findings from angiography, 10 had surgical exploration because of high clinical suspicion of vascular injury. Arterial injury was found in 2 cases (2 false negatives). In 8 patients, arteriography modified the surgical procedure. In the 11 remaining patients, clinical and echo Doppler follow-up results were normal, a negative predictive value of 90% (19/21). Sensitivity was 97%, specificity 86%, and accuracy 95%. These data show that arteriography in stable patients is a safe and accurate procedure. It permits avoidance of unnecessary surgical exploration in selected patients and helps modify the surgical procedure.

Osteomas of the paranasal sinuses.

Twenty-three cases of osteoma of the paranasal sinuses are presented. Particular attention is paid to the aetiology, presentation, site of origin, pathology and management of these tumours. The natural history and prognosis are discussed together with the various methods of surgical approach. The relevant papers have been reviewed and the results compared with our series.

Post-operative pain in tonsillectomy: bipolar electrodissection technique vs dissection ligation technique. A double-blind randomized prospective trial.

The two commonly employed methods for tonsillectomy at present are electrodissection and ligature dissection. This study was carried out on 70 patients as a randomized prospective double blind trial to compare the post-operative morbidity of these methods with special reference to pain. The post-operative pain appears to be much less for the ligation dissection technique compared to the electrodissection method except during the first post-operative day. Irrespective of the technique employed for tonsillectomy, the worst pain was experienced on the fifth and sixth post-operative day by almost all of the patients.

[Digestive manifestations of hereditary angioneurotic edema. Apropos of a case]. / Manifestations digestives d'un oedème angioneurotique héréditaire. A propos d'un cas.

We present a case of hereditary angioedema with cutaneous and intestinal manifestations mimicking a small bowel tumor on computed tomography, and in which unnecessary surgery was avoided by follow-up computed tomography. We discuss the pathophysiology, clinical and radiological manifestations of the disease, as well as its computed tomographic appearance.

[Imaging aspect of a case of fibrodysplasia ossificans progressiva]. / Aspect en imagerie d'un cas de fibrodysplasie ossifiante progressive.

Fibrodysplasia ossificans progressiva is a rare congenital disease that affects children under the age of five years. Soft tissue swelling of the cervical and dorsal regions with local pain, warmth and low grade fever are the early clinical manifestations, usually associated with hallux valgus and microdactily of the fingers and toes. Calcifications of the fascias and muscles cause muscular contractures leading to progressive disability and restrictive lung disease. In the early stage, CT shows edema of the soft tissues and later on, calcifications of muscular fascia. The association of these radiographic and CT findings is specific and should avoid muscular biopsies which are known to be an aggravating factor in this disease.

[Acute cholecystitis using computed tomography: usefulness of the trabeculation of the peri-cholecystic adipose tissue]. / Cholécystite aiguë en tomodensitométrie: utilité de la trabéculation de la graisse périvésiculaire.

PURPOSE: To evaluate the significance of pericholecystic fat stranding on CT, and to compare it to other CT findings in patients with acute cholecystitis. MATERIALS AND METHODS: The CT examinations of 14 patients with proven acute cholecystitis were retrospectively reviewed and evaluated for the presence of findings consistent with this diagnosis. RESULTS: The most common CT finding was stranding of the pericholecystic fat (13 patients), followed by gallbladder distension (11 patients). Pericholecystic or perihepatic fluid was present in 6 patients in association with severe acute cholecystitis (6 patients) and biliary peritonitis (2 patients). CONCLUSION: Stranding of the pericholecystic fat was the most common CT findings in patients with acute cholecystitis, followed by gallbladder distension.

[Cavernous dural fistulas: Importance of trans-ocular Doppler ultrasound in evaluating venous patency and therapeutic choices]. / Fistules durales caverneuses: intéret de l'écho-Doppler transoculaire dans l'évaluation de la perméabilité veineuse et le choix thérapeutique.

Transcranial Duplex scan is a relatively recent diagnostic tool with many unexplored clinical potentials. The authors insist on the role of transocular exploration, as a non-invasive substitute to angiography and discuss two patients with cavernous meningeal arteriovenous fistula, a benign but relatively uncommon disease. In the first patient, in whom symptoms recurred, Duplex scan was able to rule out thrombophlebitis and to show increased flow in the fistula, thus leading to proper treatment. In the second patient, the identification of a periorbital thrombophlebitis innocented the fistula and prompted anti-coagulation. We conclude that besides its diagnostic capabilities, Duplex scan may be helpful in selecting proper treatment and follow-up in specific neurovascular conditions.

[Aberrant origin of the splenic artery]. / Orgine aberrante de l'artére splénique.

We report an incidental finding of an aberrant origin of the splenic artery described here for the first time.

[Arteriovenous fistula following femoral angioplasty]. / Fistule artério-veineuse compliquant une angioplastie fémorale.

We describe a case of arteriovenous fistula developing at the site of balloon dilatation immediately after percutaneous transluminal angioplasty of the superficial femoral artery. This occurred during an otherwise uncomplicated angioplasty. The fistula was treated by inflating a slightly larger balloon with a good clinical result as confirmed by color Doppler ultrasound. This uncommon complication of angioplasty is not widely recognized.

[Ultrasonographic evaluation of the kidney, liver and spleen size in children]. / Evaluation échographique de la taille des reins, du foie et de la rate chez l'enfant.

BACKGROUND: The aim of our study was to establish a standard growth curve of renal, hepatic and splenic dimensions with respect to age, and to find if any relationship existed between these different curves. PATIENTS AND METHODS: One hundred and fifty abdominal ultrasound studies were obtained on 62 male and 88 female normal children free of any chronic disease, whose ages ranged from 0 to 15 years. Hepatic, splenic and renal dimensions were obtained in a similar and reproducible fashion for all patients. A statistical study of the measurements obtained compared to the age was performed by dividing the subjects into five groups according to age, and after calculating the mean size and variance. RESULTS: Standard growth curves for the liver, kidney and spleen were constructed. Compared to age, splenic size follows the same growth as that of the kidneys, with a constant ratio. The growth pattern of the liver parallel the renal curve with a mean difference of 2.72 cm. CONCLUSION: A moderate enlargement of spleen and liver is difficult to evaluate only by clinical examination. Ultrasound may detect it by using the kidney size as a reference.

[Value of sonography in prolonged neonatal jaundice. Findings in 13 cases]. / Place de l'échographie dans l'ictère néonatal prolongé. A propos de 13 cas.

BACKGROUND: Different conditions are associated with a prolonged cholestatic jaundice in the neonatal period: viral hepatitis, biliary atresia and choledocal cyst are the most frequent causes. Laboratory findings are necessary, although they do not permit an etiologic diagnosis in all cases. Serial ultrasonographic study could be proposed for the evaluation of biliary excretion before and after feeding, in order to differentiate between these three conditions. PATIENTS AND METHODS: Between February 1993 and January 1997, 13 newborns (seven girls and six boys) aged from 30 to 186 days, presented with jaundice and conjugated hyperbilirubinemia. They were evaluated by laboratory tests; serial ultrasonographic examinations were performed after 4 hours fasting then 1 and 2 hours after meal. RESULTS: The gallbladder (GB) was visualized in nine patients. In five of these patients, it contracted after feeding suggesting the diagnosis of neonatal hepatitis, that was confirmed by the clinical evolution. In three patients, the GB did not change in size and the diagnosis of biliary atresia was surgically proven. In one patient, a choledocal cyst was visualized and confirmed by surgery. The GB was not identified after 4 hours of fasting in four patients; biliary atresia was suspected and confirmed by surgery. CONCLUSION: Serial ultrasound of the GB is an easy and non-invasive method. It was useful in identifying those conditions requiring surgery in eight patients. We recommend its use as the initial method in the evaluation of neonatal jaundice before the other invasive methods.

[Capillarovenous angioma of the maxillary sinus. Apropos of a case with review of the literature]. / Angiome capillaro-veineux du sinus maxillaire. A propos d'un cas avec revue de la littérature.

We report the case of a 30-year-old woman who presented with swelling of the left cheek, related to a capillarovenous angioma (previously known as cavernous osseous hemangioma), located in the left maxillary sinus. The different imaging modalities, histologic appearance and evolution criteria are reported and discussed.

["Mirror" intracavernous aneurysms. Therapeutic dilemma apropos of a case with review of the literature]. / Anévrismes intra-caverneux "en miroir". Dilemme thérapeutique à propos d'un cas avec revue de la littérature.

"Mirror" cavernous aneurysms are exceptional; only 66 such cases having been published until mid-1996. We report on a 68-year-old woman who presented for left exophthalmos, diplopia and neuralgia. MR and angiography demonstrated a giant symptomatic aneurysm on the left side and an incidental small one on the right side. The patient was treated in two sessions: first, she had selective embolization of her right aneurysm; two weeks later, her left carotid artery was sacrificed with detachable balloons, after a well-tolerated occlusion test. This original and successful approach permitted to achieve a reasonable goal when considering the patient's age, operative morbidity, risk of future complications and final result. A review of the pathophysiology, clinical manifestations and therapeutic indications is presented and discussed.

[Double hemorrhagic complication of endo-urologic drainage in single kidney]. / Double complication hémorragique d'un drainage endo-urologique sur rein unique.

Hemorrhage is the most worrisome complication of percutaneous renal procedures, and usually occurs early in the postoperative period. The incidence of severe arterial injury is 1 to 2%. We report a patient who had 2 bleeding episodes on a solitary kidney. The first, which occurred early after the procedure, was due to an arteriocaliceal fistula treated by coil embolization. The second bleeding episode occurred two weeks later, and was caused by erosion of a lumbar artery; it was embolized by microparticles. To our knowledge, this is the first report of the imaging findings. In summary, when bleeding occurs after endourologic procedures, renal as well as extrarenal parietal causes should be investigated.

[Venous malformation of the corpus adiposum buccae]. / Malformation veineuse de la boule graisseuse de Bichat.

We report on a venous malformation (previously known as a cavernous angioma) with an unusual location in the corpus adiposum buccae. Diagnosis, histologic classification and management of these rare lesions are discussed.

[Selective salpingography and transcervical tubal recanalization: technique, indications, results. Apropos of 53 proceedings]. / Salpingographie selective et recanalisation tubaire transcervicale. Technique, indications, resultats. A propos de 53 procédures.

The aim of the study is to evaluate the efficacy of selective salpingography and fallopian tube recanalization as a diagnostic and therapeutic procedure when proximal tubal obstruction is present. Fifty-three procedures were performed between January 95 and March 98 in the Radiology Department of Hôtel-Dieu de France Hospital, on 53 infertile women aged between 25 and 43 years. Unilateral or bilateral obstruction was documented on hysterosalpingogram or by laparoscopy. The technique consisted of a direct fallopian tube catheterization, under fluoroscopy using an hydrophilic guidewire. Water soluble contrast material was used. Eighty-eight tubes were evaluated (35 with bilateral and 10 with unilateral obstruction, 8 single tubes). Recanalization was possible in 52 cases (97.5%). Twenty-nine patients were followed. Thirteen pregnancies were reported (45%). This pregnancy rate is however increased to 62% if we exclude the cases where other infertility problems coexisted. No complications occurred. Selective salpingography and fallopian tube catheterization is a non invasive successful technique that is extremely useful in the diagnosis and treatment of tubal obstruction in women with infertility problems. It can be performed immediately after an hysterosalpingogram when the fallopian tubes are not opacified.

[Percutaneous renal angioplasty. Experience of the Radiodiagnostic Service of the Hotel-Dieu of France]. / Angioplastie rénale percutanée. Expérience du Service de Radiodiagnostic de l'Hôtel-Dieu de France.

OBJECTIVE: We report on a series of 42 renal artery stenosis treated with percutaneous transluminal angioplasty (PTA). MATERIALS AND METHODS: From January 1988 to June 1996, these 42 renal artery stenoses were found in 33 patients (17 males and 16 females) who had a balloon dilation (with 3 stent deployment); 9 of these lesions were bilateral and 7 on a single kidney. Initially, 32 patients had a high blood pressure and 6 a progressive renal failure. Twenty-two patients presented an atheromatous pathology, 7 a fibromuscular dysplasia. One patient had a Takayasu arteritis, and 3 others a stenosis of the renal graft artery. RESULTS: We find a complete initial success in 86% of the patients, a partial success in 14% without any catheterization failure. Global success rate of PTA is 90% at 29 months mean follow-up. A benefit of PTA regarding blood pressure was found in 84.4% of the patients. The renal function became normal in half the patients with renal insufficiency. CONCLUSION: PTA is an efficient treatment for renal artery stenosis. A satisfactory improvement of blood pressure and renal function is found in a high number of patients.