Radiotherapy in the management of rare gastrointestinal cancers: A systematic review.

The aim of this analysis is to assess radiotherapy's role and technical aspects in an array of rare gastrointestinal (GI) cancers for adult patients. Collection data pertaining to radiotherapy and digestive rare cancers were sourced from Medline, EMBASE, and Cochrane Library. Preoperative chemoradiotherapy improved outcomes for patients with esophageal undifferentiated carcinoma compared with esophageal salivary gland types of carcinomas. For rare gastric epithelial carcinoma, perioperative chemotherapy is the common treatment. Adjuvant chemoradiotherapy showed no benefice compared with adjuvant chemotherapy for duodenal adenocarcinoma. Small bowel sarcomas respond well to radiotherapy. By analogy to anal squamous cell carcinoma, exclusive chemoradiotherapy provided better outcomes for patients with rectal squamous cell carcinoma. For anal adenocarcinoma, neoadjuvant chemoradiotherapy, followed by radical surgery, was the most effective regimen. For pancreatic neuroendocrine tumors, chemoradiotherapy can be a suitable option as postoperative or exclusive for unresectable/borderline disease. The stereotactic body radiotherapy (SBRT) is a promising approach for hepatobiliary malignancy. Radiotherapy is a valuable option in gastrointestinal stromal tumors (GIST) for palliative intent, tyrosine kinase inhibitors (TKIs) resistant disease, and unresectable or residual disease. Involved field (IF) radiotherapy for digestive lymphoma provides good results, especially for gastric extranodal marginal zone lymphoma (MALT). In conclusion, radiotherapy is not an uncommon indication in this context. A multidisciplinary approach is needed for better management of digestive rare cancers.

Primary neuroendocrine tumors of the breast: About a case and of the review of the literature.

primary neuroendocrine carcinomas of the breast represent a minority and are currently included in the latest WHO classification of breast tumors. Their morphological and immunohistochemical features (chromogranin and synaptophysin expression) allow the retain the diagnosis. we report a case of primary neuroendocrine carcinoma of the breast in 50 years old Moroccan women who presented nodule 4,2 cm palpable and mobile of the left breast. Lumpectomy axillary lymph node resection was performed. a histopathological examination disclosed the diagnosis of primary breast neuroendocrine tumors with negative surgical margins and positive lymph nodes (13 N+/19 N). The tumor cells were positive for neuroendocrine markers, a highKi67 proliferation index and the membrane expression of the invasive tumor cells to the anti-HER2 antibody was 2, a FISH done which was equivocal. Our patient received 6 courses of chemotherapythen radiotherapy; currently she received adjuvant hormonal treatment with Tamoxifene.

Lynch syndrome or hereditary non polyposis colorectal cancer (HNPCC) in a moroccan family: Case report.

INTRODUCTION AND IMPORTANCE: Colorectal cancer is a major global health problem. In 5% of cases, a genetic predisposition to cancer's syndrome is the etiology, such as Lynch syndrome. The population prevalence of Lynch syndrome has been estimated at 1/440. The objectives of this study are to show the interest of the oncogenetic consultation in the management of patients with suspicion of Lynch syndrome. CASE PRESENTATION: It is a 70-year-old patient with a family history of different neoplasms. The patient has also been followed for an adenocarcinoma of the colon. An oncogenetic consultation was indicated, which led to the diagnosis of Lynch syndrome, according to the Amsterdam II criteria. A study of the MisMatch Repair genes was requested, to allow a pre-symptomatic diagnosis of apparented subjects at risk, and thus to also allow monitoring and early diagnosis of neoplasms or prophylactic measures. DISCUSSION: Lynch syndrome is one of the most common cancer susceptibility syndromes. A constitutional deleterious mutation in one of the DNA MisMatch Repair genes, is responsible for nearly 70% of cases of this syndrome. The oncogenetic consultation and the identification of the genetics cause, makes it possible to set up specific monitoring and to offer a pre-symptomatic test to all major relatives of the index case. CONCLUSION: This medical observation shows the benefit of the oncogenetic consultation, if a genetic predisposition to cancer's syndrome is suspected. The diagnostic of this predisposition and monitoring of the propositus and his exposed, like in Lynch syndrome will help in the early management of cancers, specially colorectal cancer and endometrial adenocarcinoma.

[Small cell neuroendocrine carcinoma of the bladder: Report of five cases and a review of the literature]. / Carcinome neuroendocrine à petites cellules de la vessie : à propos de cinq cas et revue de la littérature.

Neuroendocrine small cell carcinoma of the bladder is a rare and aggressive tumour, accounting for less than 1% of all bladder tumours. Given its rarity and the absence of randomized trials, the therapeutic management of these tumours remains difficult. By analogy with small cell lung cancer, multimodal treatment is often proposed. Radical cystectomy plus chemotherapy and chemoradiation therapy are associated with better survival compared to monotherapy. We report our experience in the management of these tumours with literature review.

[Radiotherapy of primary breast sarcomas: Retrospective study]. / Radiothérapie des sarcomes mammaires primitifs : étude rétrospective.

PURPOSE: Primary breast sarcomas are heterogeneous tumours derived from non-epithelial mammary gland structures. Although they represent a rare entity, their incidence may increase in the coming years owing to conservative approach considered in the treatment of breast cancer. The aim of this work was to highlight the effect of postoperative irradiation in the treatment of these tumours. MATERIALS AND METHODS: This is a retrospective study conducted at the Mohammed-VI centre for cancer treatment between 2004 and 2011. Survival rates were calculated by the Kaplan-Meier method. RESULTS: Fifteen cases were collected. The median age was 41.9years. Phyllode sarcoma accounted for 66% of this series. Surgical treatment was performed in 93% of the patients with negative margins in 33.33% of the cases. Neoadjuvant chemotherapy was indicated in 46% of the patients with locally advanced tumours and 66% of the patients received postoperative radiotherapy for positive or close margins. Five years overall survival and relapse free survival was not significantly different with the use of adjuvant radiotherapy. CONCLUSION: Due to the rarity of this entity and the absence of randomized trials, evidence based management is still lacking. However, a multidisciplinary approach is to be required including surgical excision followed by radiotherapy, depending on the tumour characteristics.

A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.

BACKGROUND: Intellectual disability (ID) features in numerous heritable medical conditions that result from ATRX mutations. Alpha-thalassemia mental retardation syndrome (ATR-X syndrome) is the most notable manifestation of ATRX dysfunction. In addition to ID, genitourinary and craniofacial abnormalities are regularly observed with or without alpha-thalassemia. AIMS: The study sought to characterize two cases of ATR-X in a Yemeni family clinically and molecularly. METHODS: PCR amplification and Sanger sequencing were used to study the ATRX gene in a Yemeni family. Also, methylation-sensitive PCR was used to perform X-inactivation studies. CADD, SNAP2 and PolyPhen-2 helped to predict the functional consequences of the variant. RESULTS: Molecular testing revealed a novel hemizygous missense mutation (c.5666T>G) in the ATRX gene in the two Yemeni brothers. This mutation was found in a heterozygous state in the mother, with the chromosome harboring the mutated allele being under strongly skewed X-inactivation. CONCLUSIONS: The mutated gene is predicted to have a disrupted SNF-2 domain at a conserved residue; p.Leu1889Trp, which is deemed functionally damaging. This report offers, for the first time, full clinical and molecular characterization of a novel ATRX variant in an Arab family.

[Mucinous carcinoma of the breast: Clinical, biological and evolutive profile]. / Carcinome mucineux du sein : profil clinique, biologique et évolutif.

PURPOSE: Mucinous carcinoma of the breast accounts for 1 to 4% of all breast cancer. There are two histological subtypes: mixed mucinous carcinoma, where the ductal carcinoma is associated with the colloid component, and pure mucinous carcinoma, with a favorable prognosis, where the mucus surrounds the tumour tissue and constitutes a mechanical barrier limiting cell invasion and making this form less aggressive. Our study aimed to determine retrospectively the main epidemiological, clinical, biological, and therapeutic features, as well as the prognosis of this rare form of breast carcinoma. MATERIALS AND METHODS: The authors report 32 cases of mucinous carcinoma of the breast diagnosed in Mohammed-VI centre for cancer treatment in Casablanca. RESULTS: The average tumour size was 4.5cm (0.5-7cm). We found ten positive lymph node dissections, seven of them were of mixed mucinous carcinoma with a tumour size ranging between 4 and 7cm. Mucinous carcinoma was pure in 16 cases, mixed in 14 and a neuroendocrine differentiation was found in two cases. Most tumours were of an intermediate histological grade (n=19) with positive hormonal receptors (68%). After a mean follow-up of 30 months, complete remission was maintained in 92% of evaluable patients. CONCLUSION: Mucinous carcinoma is a rare type of breast cancer, with a favourable prognosis for the pure form.

[Therapeutic outcomes of medulloblastoma in Casablanca from 2000 to 2012]. / Résultats du traitement du médulloblastome à Casablanca de 2000 à 2012.

PURPOSE: To describe the therapeutic results, with the aim to contribute to improving the care of patients with medulloblastoma. PATIENTS AND METHODS: A retrospective study of 69 cases of medulloblastoma collected in the university hospital Ibn Rochd of Casablanca between 2000 and 2012. RESULTS: Fifty-three children with an average age of 9 years and 16 adults with an average age of 32.4 years were included in the study. Thirty-seven children and eight adults suffered from a high-risk tumour. The radiotherapy was received by all patients with a mean dose of 36 Gy to the whole brain and 54 Gy in the posterior fossa. All patients in the paediatric group and 10 patients in the adult group received concomitant chemotherapy, 44 children and four adults received adjuvant chemotherapy. Tumour recurrence was observed in 17 children after a mean follow-up period of 38 months. These recurrences were observed in five adults after a mean follow-up period of 42 months. The posterior fossa was the main site of relapses. Overall survival was 77.7% for the children and 61% for the adults. Overall survival was better (70% versus 25%) when the interval between radiotherapy and surgery was less than 40 days in the paediatric group. The recurrence rate was significantly higher for the high-risk group: 41% versus 13% for the standard risk. In the adult group, overall survival differences according to the risk group were significant (100% for the standard risk versus 37.5% for the high risk). CONCLUSION: The overall survival and recurrences rate obtained are encouraging. The risk group and time between surgery and radiotherapy were prognostic factors with significant impact on survival depending on the age group. We recommend reducing these times to improve therapeutic results.

Metachronous bilateral isolated adrenal metastasis from rectal adenocarcinoma: a case report.

We report a case of adrenal metastasis from colorectal cancer in a 54-year-old woman. Nine months after resection for advanced rectal carcinoma, a computed tomography scan revealed bilateral adrenal metastasis. The level of serum carcinoembryonic antigen was normal. A bilateral adrenalectomy was performed after chemotherapy. Histopathological examination showed adenocarcinoma, compatible with metastasis from the rectal cancer. Adrenal metastasis should be considered in the patients' follow-up for colorectal cancer.

Pseudomyxome peritoneal

Le pseudomyxome du peritoine est une affection dont la genese est peu connue. De plus sa rarete est confirmee par les 2 cas decouverts de maniere fortuite sur 10.000 laparotomies. Le tableau clinique est pauvre; fait de distension et douleurs abdominales. Il semble que le pseudomyxome soit consecutive a la rupture d'un muccocele appendiculaire. L'association soit a des tumeurs malignes bien differenciees soit a des tumeurs frontieres a souvent ete retrouvee. La production extracellulaire de mucine dans la cavite peritoneale constitue un critere majeur de diagnostic. Le traitement adequat associe la chirurgie complete des lesions macroscopiques et la chimiotherapie intraperitoneale en utilisant certaines molecules qui ont montre leur efficacite

[Granular cell tumor: report of a complicated vulvar localization of pulmonary metastases]. / Tumeur à cellules granuleuses : à propos d'une localisation vulvaire compliquée de métastases pulmonaires.

Granular cell tumour, or Abrikossoff's tumour, is a rare, ubiquitous tumour, with mostly benign evolution. The malignant forms represent 1-3% of the cases. The vulvar localization is exceptional. We report the case of a 28-year-old patient who presented a vulvar Abrikossoff's tumour. Initially considered benign, the tumour was treated by exclusive local surgery. Five months later, the tumour showed a malignant transformation. The tumour size was 14cm in its major axis with the presence of not systematized scattered mitoses, PS 100 was positive at 100% and Ki 67 to 20%. Because of malignant and economic excision of the neoplasm, the patient received adjuvant radiotherapy. After 20 months, the patient had a local recurrence and lung metastasis, supporting the diagnosis of malignancy. She received two chemotherapy regimens of 5-fluoro-uracil/cisplatin and pacliatxel/carboplatin without any response. Following the failure of chemotherapy, the patient received symptomatic medical treatment. This observation leads to advocate an aggressive surgical treatment and strict supervision of all granular cell tumours.

[Orbital metastasis from mucinous adenocarcinoma of the rectum]. / Métastase orbitaire d'un adénocarcinome mucineux du rectum.

Orbital metastasis from colorectal cancer are extremely rare. Only six cases are described in the literature. The discrepancy between the frequency of colorectal cancer and the rarity of metastasis to the eye and orbit remains paradoxical and enigmatic. We report the case of an 18-year-old young woman with orbital metastasis as the presenting sign of rectal cancer. Proptosis is the most frequent presenting clinical sign. Once the diagnosis is made, the prognosis is poor and treatment is palliative.

[Intracranial ependymomas: retrospective study of 16 cases]. / Épendymomes intracrâniens: étude rétrospective de 16 cas.

PURPOSE: To report the epidemiological, clinical aspects and therapeutic results of intracranial ependymomas in Morocco. PATIENTS AND METHODS: Our retrospective study concerned 16 cases of intracranial ependymomas, treated from January 1995 to December 2002 at the radiotherapy department of Ibn Rochd Hospital of Casablanca, Morocco. RESULTS: The average age was 15 years and complete surgery was possible in two cases. All the patients received cranial radiotherapy, combined with chemotherapy in six cases. Overall survival and progression-free survival at 5 years were respectively 50% and 31%. Eleven patients had local recurrence after an average period of 21 months. Progression-free survival at 5 years was better if complete resection: 100% vs. 28.6% in cases of incomplete resection, and depending on the histological type with 50% for classic ependymomas and 16.6% for anaplastic. CONCLUSION: Ependymomas are rare tumors and complete resection is the standard treatment followed by postoperative radiotherapy. The place of chemotherapy remains to be defined.

[A rare tumor of the infratemporal fossa]. / Tumeur rare de la fosse infratemporale.

INTRODUCTION: Giant cell tumors of bone (GCT) are usually benign and relatively rare. They have an aggressive behavior and an unpredictable prognosis. They occur mainly in the young adult, with a preferential localization in long bones. We report a giant cell infratemporal fossa tumor. OBSERVATION: A 55-year-old female patient consulted for swelling in the right cheek. Surgical excision was incomplete because of the subtemporal tumor localization. Histological assessment proved a GCT. Forty-five grays postoperative external radiotherapy was applied to the surgical site. The patient had local control at the 12-month follow-up. DISCUSSION: GCTs are seldom observed in the facial skeleton (2%). The recommended treatment is surgery. Radiotherapy can be indicated in case of incomplete or impossible surgical excision, or when surgery would be responsible for a major functional deficit.

[Ocular metastasis heralding gastric adenocarcinoma]. / Métastase oculaire inaugurale d'un adénocarcinome gastrique.

Ocular metastasis is a rare presenting feature of gastric adenocarcinoma. We report a 48-year-old woman who presented with a decrease in visual acuity of the right eye leading to the discovery of an ocular metastasis. Diagnostic work-up identified a gastric adenocarcinoma with pulmonary metastases. She received four cycles of chemotherapy combining epirubicin, cisplatin and fluorouracil. The patient died 6 months after the diagnosis of respiratory failure.

[Malignant pilomatrixoma of head and neck. A case report]. / Le pilomatricome malin cervical métastatique : à propos d'un cas.

We report the case of a 66-year-old patient with a pilomatrix carcinoma from the right submandibular region with pulmonary and cerebral metastases. The histological confirmation of the diagnosis has been based on the biopsy of the submandibular tumefaction which was rapidly growing. We tried at first a doxorubicine and cisplatine chemotherapy because of the considerable locoregional extension and the existence of pulmonary metastases. The patient response to three cures of chemotherapy was spectacular with a partial clinical response (75%) and a partially cleaned-up chest observed in the radiological evaluation. In the 5th cycle of chemotherapy following the same protocol, the patient presented a relapse with cerebral metastases. The patient received hypofractionated radiotherapy on the brain followed by etoposide and cisplatine chemotherapy, then oral vinorelbine. The patient died of progressive disease after 32 weeks.

[Neuroendocrine carcinoma with large cells of the breast: case report and review of the literature]. / Carcinome neuroendocrine à grandes cellules du sein : à propos d'un cas et revue de la littérature.

Neuroendocrine carcinoma with large cells is a slightly different tumor from the high rank of malignity. We report a case of breast localization in a 28-year-old patient. It is a locally advanced classified T4dN1M0 tumor that required neoadjuvant chemotherapy. The clinical answer was 75% of the level of the tumor. A standard surgery mastectomy with axillary lymph node dissection was realized, followed by external radiotherapy. The anatomopathologic and the immuno-histochemical study of the operational part confirmed the diagnosis of neuroendocrine carcinoma with large cells expressing the progesterone receptor. The patient is subjected to adjuvant hormonal treatment. After a 12 months retreat, a complete remission is maintained. Considering the scarcity of neuroendocrine carcinoma with large cells of the breast, the therapeutic standard is not yet available and the forecast remains difficult to determine.

[Giant-cell bone tumors of the spine: report of two cases and literature review]. / Deux cas de tumeurs osseuses à cellules géantes du rachis et revue de la littérature.

Giant cell tumours (GCT) are relatively rare neoplasms, most often benign. They are characterized by their local aggression. We report two observations of GCT, the spine in a 51-year-old woman and a 14-year-old boy. They were revealed by spinal pain and cord compression for the second observation. Computed tomography and magnetic resonance imaging showed osteolysis of the body and vertebral arch of L5 for the first and a process affecting the vertebral body and medullary canal of T6-T7 with spinal cord compression for the second case. The diagnosis was confirmed by histological examination in two cases. An external radiation at a dose of 45 Gy on L4, L5 and the sacrum was made in the first case and the dose of 40 Gy on the vertebrae of T4 to T9 and an additional 6 Gy on T5-T8 in the second case. The patients are alive without progress with five years and 18 months follow-up, respectively. Radiation could be proposed as a standard treatment for patients with incomplete excision or where surgery would induces functional deficits.

[Post-radiation choanal stenosis]. / Sténose choanale post-radique.

OBJECTIVE: Description of a rare complication of radiation therapy for nasopharyngeal carcinomas and the therapeutic value of surgical endoscopic desobstruction. CASE REPORT: A choanal stenosis observed in an 8-year-old boy, 3 years after radiation therapy and chemotherapy for a voluminous nasopharyngeal carcinoma. No initial involvement of the nasal fossa was observed. Concomitant relapse was excluded after clinical and histological examination. RESULTS: A good functional result was achieved after the choana was unblocked in videoendoscopic surgery. After 9 months of follow-up, the breathing and odor functions remained intact. CONCLUSION: Choanal stenosis is a rare complication of radiotherapy for nasopharyngeal carcinoma. Relapse should be excluded with biopsies beyond the stenosis. Treatment is based on endoscopic surgery.

[Breast metastasis from vulvar carcinoma: case report and review of literature]. / Métastase intramammaire d'un cancer vulvaire: à propos d'un cas avec revue de la littérature.

The breast metastases resulting of vulvar carcinoma are very rare, and represent exceptionally the first manifestation of the disease. We report the case of a 42 year-old patient who underwent a treatment because of vulvar epidermoid carcinoma, right away metastatic at the level of the inguinal ganglia. The treatment consisted in a total vulvectomy with bilateral ganglial curretage, followed by external radiotherapy about the perineum and the inguinal ganglia. Three months after the end of her treatment, the patient presented with a nodula on the left outer breast with features of malignancy noticed by clinic and mammographic examination. The histologic study of the mammary biopsy showed epidermoid carcinoma of likely metastatic origin. A left Patey has been realized and confirmed the metastatic localization of epidermoid carcinoma with axillary ganglial metastasis (2N+/-7). Besides, this patient presented a right cervical ganglial parcel that the biopsy showed a metastatic localization of a vulvar carcinoma. A palliative chemotherapy type cyclophosphamid, adriblastin, cisplatine (CAP) has been admistrated during three cycles spaced out three weeks. The patient died 11 months after the supervene of the cerebral metastasis. We present this case because its rarety and to show the possibility of metastasis at the level of breast due to vulvar cancer. The clinicians must remember this possible tropism of the vulvar cancer for the breast, not only during the supervision and the complete examination as regards the disease spreading but also when the affection revealed unknown primary tumor. The diagnostic orientation is based on the mammography and the mammary biopsy. In this stage, the treatment is unfortunately palliative, the survival until a year is not more than 20%.