Pediatric high grade gliomas: Clinico-pathological profile, therapeutic approaches and factors affecting overall survival.

INTRODUCTION: Pediatric high grade gliomas are rare tumors of the central nervous system. Treatment is multidisciplinary, comprising surgical excision followed by radiotherapy and/or chemotherapy. OBJECTIVES: describe these tumors' characteristics as seen in our institution, and identify factors associated with better overall survival. PATIENTS AND METHODS: We conducted a retrospective study of 30 cases of pediatric high grade glioma treated consecutively in our institution over a 20-year period. Brainstem tumors and patients aged more than 22years were excluded. Univariate analysis was conducted to determine factors associated with better overall survival. RESULTS: The series comprised 30 pediatric high grade gliomas: 27 glioblastomas and 3 anaplastic astrocytomas. The sex ratio was 1.7. Mean age was 13years. Tumors were mainly located in the cerebral hemispheres (63.3%). Median tumor size was 5cm. Glioblastomas were subdivided into 26 cases of classical subtype (96.3%) and 1 case of epithelioid subtype (3.7%). Surgical strategy consisted in tumor resection in 24 cases (80%). Twenty-one patients (70%) received postoperative radiotherapy. Therapeutic response at end of treatment was complete in 7 cases (23.3%). Postoperative radiation therapy and complete treatment response were significantly associated with improved overall survival in all high grade gliomas and also specifically in glioblastomas (P<0.001 and P=0.005, respectively). CONCLUSION: Our results suggest that postoperative radiotherapy and complete treatment response are predictive factors for better overall survival in pediatric high grade glioma.

Telangiectatic osteosarcoma of the rib: a rare entity and a potential diagnostic pitfall.

Osteosarcoma (OS) is a common primary malignant tumor of bones that produces osteoid matrix. Telangiectatic osteosarcoma (TOS) is a rare variant of OS. It affects the long bones especially the lower end of femur and the upper ends of tibia and humerus, a distribution similar to the conventional osteosarcoma. The rib involvement is very infrequent. We present a case of TOS of the rib that posed a diagnostic difficulty owing to its unusual location and to its resemblance to giant cell tumor and aneurysmal bone cyst. Correspondence.

An unusual tumour of the lung.

We report a case of a 51-year-old woman with a solitary mast cell tumour of the lung, a rare neoplasm with only three previously-reported cases reported in the literature. Unlike previous cases, the tumour in the present case was bulky, measuring 14 cm in diameter and budding into the segmental bronchus. Histologically, it showed proliferation of typical metachromatic mast cells intermingled with undifferentiated cells with a ratio of 3:1. The neoplastic mast cells stained strongly with tryptase, CD117, CD68 and CD45, CD14 and CD33; whereas the undifferentiated cells lacked all these markers and expressed EMA and cytokeratin. Histological examination of bone marrow and laboratory data were unremarkable. To our knowledge, this is the fourth case of solitary extracutaneous mastocytoma of the lung. The differentiating features of this neoplasm and a review of literature are presented.

A novel BRCA2 in frame deletion in a Tunisian woman with early onset sporadic breast cancer.

BACKGROUND: Breast cancer is increasing among young women in Tunisia. Germline mutations in the BRCA1/2 genes are associated with a high risk for breast cancer development. However, the true contribution of BRCA1/2 mutation in sporadic breast cancer is not well documented. Our aim is to identify the BRCA2 mutation spectrum in Tunisian young women with breast cancer. METHODS: Screening the BRCA2 gene was performed using DHPLC, DNA sequencing and PCR-RFLP. RESULTS: We identified, in a woman diagnosed with early onset breast cancer, and without family history, a novel in frame deletion 5456delGTAGCA in the exon 11 of the BRCA2 gene which causes a loss of two residues Ser1743-Ser1744. The absence of this deletion in the patients' parents suggests that it is a de novo variant. Furthermore, we screened 108 sporadic cases, 50 familial cases, and 60 controls for the identified del6bp using PCR-RFLP. None of them carried this deletion suggesting that this variant is not a benign polymorphism and probably rare in our population. With regards to the position of the Ser1743-1744 in the BRCT domain, sequence alignment revealed that the Ser1743 is conserved among several species, which may reflect its importance in the BRCA2 function. A modeling of the wild-type and mutated BRC5-BRC6 domain revealed that the deletion of the 2 Serine residues might affect the structure of this BRCA2 domain. CONCLUSIONS: A novel in frame deletion 5456del6bp in BRCA2 gene was identified in an early onset woman with breast cancer and without family history.

[Squamous cell carcinoma on a pleomorphic adenoma with amyloid stroma of the palate]. / Carcinome épidermoïde du palais sur adénome pléomorphe à stroma amyloïde.

INTRODUCTION: Squamous cell carcinoma ex-pleomorphic adenoma (CXAP) is a malignant and rare mixed tumor. We report a new case. OBSERVATION: A seventy-year-old woman consulted for a mass in the left hemi-face having evolved over the last 20years. The physical examination revealed a hard and large tumor invading all the palate. Computed tomography revealed a heterogeneous 8.5cm long maxillary mass. The diagnosis of CXAP was made on a biopsy. A histological study confirmed the diagnosis after surgical resection of the tumor, specifying its noninvasive character. DISCUSSION: CXAP is generally located in the parotid gland; it is very rarely located in the palate. The degenerated epithelial component generally corresponds to an adenocarcinoma or an undifferentiated carcinoma; squamous-cell carcinoma is more rarely reported. The prognosis is excellent for the micro and noninvasive types. Surgery remains the treatment of choice.

[Amelanotic spitzoid melanoma of the digit: case report]. / Melanome spitzoide achromique du doigt: à propos d'une observation.

BACKGROUND: Melanomas of digit is rare, accounting for 1% of all cutaneous melanomas. We report a new case. AIM: Our purpose is to discuss the clinicopathological characteristics and the difficulties encountred in establishing diagnosis of this rare tumor. OBSERVATION: we report the case of a 25-years-old woman, who consulted for nodular and ulcerated lesion of the right index, located in the external face of the metacarpo-phalangeal joint. The nodule was biopsied and histopathologic exam concluded to spitzoid melanoma. The surgical margins were involved. The patient refused surgical recovery. She consulted 3 years later with axillary lymph nodes. A wide excision of the tumor with lymph node biopsy were made. Histological study concluded to a tumoral residu incompletely excided with lymph node metastases. Amputation of the second digit with dissection of the axillary lymph nodes was made. The surgical margins were tumor free. Lung metastases appeared with a follow up of two months. The patient died early after starting chemotherapy with Deticen. CONCLUSION: In our report, clinical presentation was misleading causing a diagnosis and therapeutic delay. Pathologically, all the histological types of melanoma were described in the digit except spitzoid melanoma.

[Adenoid cystic carcinoma of the breast]. / Carcinome adénoïde kystique du sein.

Adenoid cystic carcinoma of the breast is a rare neoplasm, accounting for only 0.1% of all malignant breast tumours. It is more common in women in the sixth decade of their lives and often in the subareolar area. The clinical criteria is not specific and the radiographic examination showed a benign-appearing tumour. The preoperative diagnosis is possible with fine-needle aspiration cytology. The diagnosis is made by histological examination, presented a difficult differential diagnosis with cribriform carcinoma; so it is necessary to use histochemical or immunohistochemical techniques. The treatment is not well established. It consists of lumpectomy with radiation or mastectomy. Compared to other locations, adenoid cystic carcinoma of the breast has a favorable prognosis. Lymph node involvement or distant metastases seldom occur. The aim of our study is to describe the epidemiological, clinicopathological characteristics, the treatment and the prognosis of this rare type of breast tumour.

[Esophageal leiomyomatosis revealing an Alport syndrome]. / Léiomyomatose oesophagienne révélatrice d'un syndrome d'Alport.

Alport syndrome is a rare progressive hematuric nephropathy associated with sensorineural deafness. Leiomyomatosis associated with Alport syndrome is quite rare. We report a particular case of Alport syndrome which was diagnosed in the setting of an oesophageal leiomyomatosis. Alport syndrome and leiomyomatosis are caused by mutation of the genes encoding for the alpha chain of type IV collagen. In view of the important clinical and genetic implications, renal function and urinary status should be controlled in any patient with oesophageal leiomyomatosis.

[Granular cell tumor]. / Tumeur à cellules granuleuses.

The granular cell tumor (GCT) or Abrikossoff tumor is a neurogenic tumor often benign with a predominant cervicofacial localization. The mean age of onset ranges between 40 and 60 years of age. Female patients are twice more affected. It is a rare tumor (0.019 to 0.03% of all tumors). The prognosis is usually favorable after surgical excision. The histological aspect is usually specific. Nevertheless, the tumor may be mistaken for a malignant one, especially in case of shallow biopsy. The neurogenic markers and staining by periodic acid Schiff (PAS) help to make the diagnosis. The malignant forms with typical recurrence and metastases are extremely rare and require a wide excision.

[Breast metastasis: anatomoclinical study of six cases]. / Les métastases mammaires: étude anatomoclinique de six cas.

INTRODUCTION: Breast metastases are rare. They represent 0.4 to 6% of all breast cancers. Our aim is to discuss the means of diagnosis and the clinicopathological features. PATIENTS AND METHODS: We report a retrospective survey of six cases of breast metastases diagnosed over a period of 11 years (1992-2003) in the laboratory of anatomy and pathological cytology of the university hospital of Sfax. The diagnosis was carried on a material of cytoponction in two cases, a biopsy in three cases, a surgery specimen in one case. Immunohistochemical study was performed in four cases. Clinical, therapeutic and evolutionary data were collected from the files of patients. RESULTS: Metastases to the breast constituted 0.43% of all breast cancers. The primary tumors understood a case of gingival-maxillary non-Hodgkin's lymphoma, a case of retroauricular melanoma, a case of soft tissue leiomyosarcoma, a case of uterine choriocarcinoma, a case of rectal neuroendocrine carcinoma and a case of gastric signet cell carcinoma. All patients were women, the middle age was 45.5 years. In three cases the metastases to the breast was concomitant to the diagnosis of the primitive tumour. Clinically it was a nodule in five cases, the size average was 2.3cm, and a subareolar thickening in one case. The mammary involvement was bilateral in two cases. The middle survival after the diagnosis was eight months. CONCLUSION: Metastases to the breast must be distinguished from primary breast cancers whose treatment and outcome are different. A confrontation of clinical and pathological data is recommended for an accurate diagnosis. Immunohistochemical study is of great interest particularly when the breast tumour is revealing the disease.

[Unusual tumor of the stomach]. / Tumeur inhabituelle de l'estomac.

Stomach melanomas are exceptional and often secondary to cutaneous tumors. Their symptomatology is not specific. We report the case of a 66-year-old woman, hospitalized with a three month history of epigastric pain and weight loss. Gastroscopy had revealed a polyp of the gastric mucosa. Histopathologic examination confirmed the diagnosis of a gastric infiltration by a melanoma. At exploration, there were lung, liver and bone metastasis and no cutaneous melanoma. The diagnosis of polymetastasis from a melanoma without primitive was kept. The patient died three months later.

Glomus tumour of uncertain malignant potential.

A 71-year-old man presented with a several year story of a slowly enlarging, painful mass of the knee. Surgical findings showed a subcutaneous, well-circumscribed mass fixed to the patella, and a wide resection was performed. Macroscopically, the tumour measured 6 x 5 x 5 cm and was well circumscribed. The tumour was characterised by superficial location, large size and focal marked atypia. In addition, areas of benign glomus tumour (GT) were identified. The findings appear to be consistent with the diagnosis of GT of uncertain malignant potential.

(AC) dinucleotide repeat polymorphism in intron 1 of human EGFR shows ethnic specificities and high evidence for association with breast cancer.

A polymorphic AC repeat in intron 1 of the EGFR gene was genotyped on 352 healthy individuals and 118 women with breast cancer sampled from the Kuwaiti and Tunisian populations. We compared allele frequencies in these populations with published data on various ethnic groups. We found very close similarity between Tunisian and Kuwaiti populations for both allelic and genotypic frequencies and in both control and patient groups. Our analysis revealed clear interethnic differences between populations; in Europeans, allele 16 occurred predominantly, whereas in Tunisia and Kuwait allele 17 was the most frequent and allele 20 predominated in Asians. One hundred twenty-three healthy women, matched with the 118 breast cancer patients, were used as controls to test for associations between AC repeat and cancer risk. Strong evidence for such an association was found for allele 18 when considered alone (chi2=27.04, corrected p=0.0000016, OR=3.94) or with longer alleles (>17 repeats) (chi2=20.21, p=0.0005, OR=2.30). This contrasts with Asian populations where allele 16 was identified as the risk allele, showing allele heterogeneity depending on ethnicity.

[Pediatric mandibular myofibromatosis]. / Myofibromatose infantile de la mandibule.

INTRODUCTION: Pediatric myofibromatosis is a rare tumor in neonates and children. Two forms are described, solitary and multicentric, the solitary type is more common and is localized mainly on the head and the neck, mandible involvement is rare. The aim of this article was to report the anatomoclinical and therapeutic features of this pediatric tumor in a case as well as its follow-up. CASE REPORT: A 10-year-old girl was brought to consultation for a lower left gingival swelling 5 cm in diameter, forming a unit with the mandibular bone. The volume had gradually increased over the last 12 months. Imagery revealed the presence of an osteolytic tumor benign in aspect, but locally aggressive. Conservative surgery was performed. The diagnosis of pediatric myofibromatosis was confirmed. Evolution was excellent and after three years of follow-up, there was no evidence of relapse. DISCUSSION: Pediatric myofibromatosis often presents as a painless, well-circumscribed, solid nodule. Imagery is very useful to assess lesion extension and for the therapeutic follow-up. The diagnosis is made on anatomopathological findings and immunohistochemical assessment. The treatment of the solitary myofibromatosis is primarily surgical and its prognosis is excellent contrary to the multicentric form.

[Metastatic signet ring cell carcinoma to the breast from stomach]. / Métastase mammaire d'un adénocarcinome à cellules en bague à chaton gastrique.

Metastatic tumors in the breast are quite rare and constitute 0.5 to 6% of all breast malignancies. They often occur in a polymetastatic context. The most frequent primitive tumors are lymphoma, leukaemia and malignant melanoma. The gastric origin is seldom reported. We report here the observation of a 40-years woman operated in urgency for an acute abdominal syndrome. A gastric tumor was discovered intraoperatively with ovarian metastasis and peritoneal carcinosis. The pathological examination revealed a gastric signet ring cell carcinoma with an infiltration of the right ovary. Four months later, the patient presented with a lump of the right breast. The histologic examination corresponded to a mammary metastasis by a signet ring cell carcinoma from stomach. The objective of our work is to discuss through this observation the anatomoclinical and evolutionary characteristics of breast metastasis.