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.

Malignant peripheral nerve sheath tumor of the superficial cervical plexus with parotid extension.

INTRODUCTION: Cervical locations of malignant peripheral nerve sheath tumor (MPNST) are rare, at less than 1% of malignant tumors of this region. CASE REPORT: A 53-year-old woman presented with a lateral cervical swelling involving the parotid region. Histology was in favor of MPNST. Adjuvant radiotherapy was indicated because of the infiltrating nature of the tumor. At 2 years' follow-up, there was no recurrence. DISCUSSION: Clinical diagnosis is difficult in cervical MPNST. Only histology with immunohistochemistry can establish the correct diagnosis. Treatment requires complete surgical resection and regular clinical follow-up.

Type 2 autoimmune hepatitis overlapping with primary sclerosing cholangitis in a 10-year-old boy.

BACKGROUND: Overlap syndrome of autoimmune hepatitis (AIH) and primary sclerosing cholangitis (PSC) is considered when the patient presents with the diagnostic criteria of both diseases at some stage of the medical history, either simultaneously or consecutively. AIM: To report on a new case of overlap syndrome and describe the clinical presentation, progression, radiological studies, histological characteristics, and therapeutic options of this rare association. CASE REPORT: A 10-year-old boy presented with jaundice and hepatosplenomegaly. Levels of plasma aminotransferases, gamma-glutamyl transferase, serum alkaline phosphatase and gammaglobulins were elevated. Anti-liver cytosol and perinuclear antineutrophilic cytoplasmic antibodies were positive. Liver biopsy showed features of interface hepatitis with ductopenia. Magnetic resonance cholangiography revealed bile duct stenosis and dilations. Serological findings associated with radiological and histological features confirmed the diagnosis of overlap syndrome of AIH with PSC. Treatment with prednisone, azathioprine, and ursodeoxycholic acid led to a good response. CONCLUSION: The possibility of AIH-PSC overlap syndrome should be considered in all children with AIH and, with clinical, biochemical, or histological signs of PSC, complementary investigations should be done to confirm the diagnosis so as to urgently initiate appropriate treatment with immunosuppressive medication and ursodeoxycholic acid.

[Desmoplastic fibroma of the skull in an infant]. / Fibrome desmoplastique du crâne chez un enfant.

Desmoplastic fibromas are uncommon osseous tumors that seldom involve the skull. These tumors are histologically benign but locally aggressive with a propensity for recurrence if resection is partial. To our knowledge, only 16 cases have been reported in the literature, seven of which concerned children. We report a further case of a desmoplastic fibroma of the skull in a 3-year-old boy who presented with a right parietal mass. The CT scan showed a lytic mass with brain compression and cortical destruction. The patient underwent a craniectomy and complete mass resection. Histological diagnosis was desmoplastic fibroma. Postoperative progress was normal without recurrence 6 months later.

[Papillary carcinoma arising from dyshormonogenetic goiter]. / Cancer papillaire sur goitre dyshormonogénétique.

INTRODUCTION: Dyshormonogenetic goiter is a genetically determined thyroid hyperplasia due to an enzyme defect in thyroid-hormone synthesis. Malignant transformation is one of the most serious complications, rarely reported in the literature. OBSERVATION: We report a new case of a 13-year-old boy with goitrous hypothyroidism who consulted for a voluminous goiter. Total thyroidectomy was performed. Histopathological examination revealed multiple foci of papillary carcinoma with a lymph node metastasis. CONCLUSION: Dyshormonogenetic goiter is a rare entity, representing one of the causes of congenital hypothyroidism. It is morphologically characterized by architectural and cellular pleomorphism that may mimic thyroid malignancy and cause difficulties in differential diagnosis.

Unusual cause of intestinal obstruction: ileal endometriosis.

Endometriosis is a common condition affecting the female genital tract, but involvement of the ileum is very rare. Its symptoms are vague and are similar to other benign and malignant disorders, and radiographic findings lack specificity. We report the case of a 23-year-old woman presenting with acute intestinal obstruction for whom preoperative diagnosis favoured acute appendicitis. Laparotomy revealed ileal stenosis. A partial small bowel resection was performed. Pathological examination diagnosed ileal endometriosis. Endometriosis may be a cause acute abdominal pain in women, and should be considered in differential diagnosis. Difficulties in establishing its diagnosis are discussed.

The value of intermittent cervical traction in recent cervical radiculopathy.

OBJECTIVE: Our objective is to assess the effect of mechanical and manual intermittent cervical traction on pain, use of analgesics and disability during the recent cervical radiculopathy (CR). METHODS: We made a prospective randomized study including patients sent for rehabilitation between April 2005 and October 2006. Thirty-nine patients were divided into three groups of 13 patients each. A group (A) treated by conventional rehabilitation with manual traction, a group (B) treated with conventional rehabilitation with intermittent mechanical traction and a third group (C) treated with conventional rehabilitation alone. We evaluated cervical pain, radicular pain, disability and the use of analgesics at baseline, at the end and at 1, 3 and 6 months after treatment. RESULTS: At the end of treatment improving of cervical pain, radicular pain and disability is significantly better in groups A and B compared to group C. The decrease in consumption of analgesics is comparable in the three groups. At 6 months improving of cervical and radicular pain and disability is still significant compared to baseline in both groups A and B. The gain in consumption of analgesics is significant in the three groups: A, B and C. CONCLUSION: Manual or mechanical cervical traction appears to be a major contribution in the rehabilitation of CR particularly if it is included in a multimodal approach of rehabilitation.

[Pure colloid carcinoma of the breast: anatomoclinical study of seven cases]. / Carcinome colloïde pur du sein : étude anatomoclinique de sept cas.

PURPOSE: Breast mucinous carcinoma is a particular histological form characterized by the extracellular production of mucus. The pure form is rarely reported and its prognostic is better than the other types of the breast cancer. The aim of the present study was to discuss the various anatomoclinical, therapeutic aspects and the prognostic factors of the pure mucinous carcinoma of the breast. PATIENTS AND METHODS: We report seven cases diagnosed over a period of 11 years (1993-2003) in the laboratory of anatomy and pathological cytology of the university hospital of Sfax. A review of the clinical files with immunohistochemistry study (hormonal receptor, synaptophysine, chromogranine, Bcl2, Ki67, P53 and Her-2/neu (C-erbB-2)) were carried out for all the cases. RESULTS: pure colloid carcinoma of the breast accounted for 0,5% of the whole of the breast cancers. The average age of patients was 69 years. At the time of the diagnosis, four tumours were classified T4, one T3, two T2, two N1 and one N3; no patient had presented metastasis (M0) according to pTNM classification. The echomammography showed regular contours mass in four cases. The anatomopathological study showed that the neuroendocrine differentiation was found in two cases, all the tumours had presented positivity for the hormonal receptors (oestrogen and progesterone) and negativity for the other antibodies, two cases exhibited the Bcl2 positivity and negativity for the other antibodies. An adjuvant radiotherapy was carried out for all the patients. The average duration of follow-up was of 33 months; the evolution was marked by the occurrence of metastases in two cases. CONCLUSION: The pure colloid carcinoma of the breast constitutes a particular morphological entity which deserves to be individualized; neuroendocrine differentiation of these tumours must be required. Their forecast is relatively favourable.

[Mucinous cystadenoma of the kidney]. / Le cystadénome mucineux du rein.

Mucinous tumors of the kidney are rare. The pathogenesis of these lesions is controversial. We report the observation of a 31-year-old woman presented with right-flank pain and hematuria. Abdominal ultrasonography and computed tomography revealed a multicystic mass of the right kidney. A total nephrectomy was performed. The pathological exam concluded on a mucinous cystadenoma of the right kidney. Mucinous cystadenoma of the kidney with a multicystic presentation has not been previously reported. In this work, we present the different pathogenic hypothesis and the means of treatment of this rare entity.

[Frantz's tumor: anatomoclinical study of six Tunisian cases]. / La tumeur de Frantz: etude anatomoclinique de six cas tunisiens.

Solid and pseudopapillary tumour (Frantz's tumour) is a rare low-grade neoplasm of the pancreas. We report six new cases. Our objective is to specify clinical and pathological characteristics of this rare neoplasm and to discuss its histogenesis. A retrospective review was considered on six Tunisan patients who had solid and pseudopapillary tumor of the pancreas. A review of medical registries and morphological analysis with immunohistochemical study were carried out in all cases. Four patients were female and two patients were male with a median age of 27,5 years (range: 14 - 68 years). Abdominal pain was the most common initial symptoms (5 cases/6). Abdominal computed tomography and/or ultrasonography was used in all the cases. The tumour was in the tail of the pancreas in 4 patients and in the body of the pancreas in one patient; one tumor involved all the pancreas. The median diameter of the tumour was 16,8 cm (range: 8 - 35 cm). Three tumours had an extrapancreatic extension. All patients underwent surgical resection. No adjuvant therapy was recommended. The mean follow up period was 24 months (range: 5 - 78 months). Only one patient died during the surgery. Except for this patient, none experienced tumor recurrence or tumor-related mortality during the follow up period. Solid and pseudopapillary tumour of the pancreas is an uncommon neoplasm which shows distinct clinicopathologically characteristics. Despite diverse studies, its histogenesis remains undetermined. This tumor should be distinguished from other pancreatic neoplasms because its prognosis is excellent after surgical resection.

[Mammary hydatid cyst diagnosed by fine needle aspiration]. / Kyste hydatique du sein diagnostiqué par cytoponction.

INTRODUCTION: Echinococcal involvement of the breast is extremely rare and usually not included in the differential diagnosis of breast lumps. OBSERVATION: This is an unreported case of a 56-year-old woman who came with a 3 cm mammary mass. Mammography showed a dense well-circumscribed lesion with calcifications. The diagnosis was established by fine needle aspiration and confirmed by pathological study. CONCLUSION: Hydatid cyst of the breast is rare. The diagnosis by fine needle aspiration is controversial. The treatment is based on complete excision of the cyst.

[Iris metastatic thyroid follicular carcinoma: a case report]. / Métastase irienne d'un carcinome folliculaire de la thyroïde: à propos d'un cas.

Metastatic carcinoma of the iris is rare and accounts for 5-10% of uveal metastasis and 3% of all iris lesions. Breast and lung carcinoma are the primary sites in 90% of patients. We report here the case of a 66-year-old man treated in 1992 for follicular thyroid carcinoma and hospitalized in 1995 for a pink vascularized mass in the iris. At that time, neither local recurrence nor metastasis in other organs was observed. Histopathologic findings were typical of follicular thyroid metastasis carcinoma. The patient had refused adjuvant treatment but was followed up for 23 months after the diagnosis of the iris metastasis. Through this observation and a literature review, we discuss clinicopathological and prognosis aspects of this exceptional location.

[Rhabdoid tumours of the central nervous system: five case studies]. / Les tumeurs rhabdoïdes du système nerveux central: à propos de cinq observations.

PURPOSE: The rhabdoid cerebral tumors were first identified by Briner et al. in 1985. Their frequency was estimated to be 2.1% of those affecting children under 18 months. Such tumors are equally characterized by a critically and speedly mortal development. Their historical genesis is still of a controversial issue. The aim of the present study was to discuss the various anatomicoclinical and therapeutic aspects of these rare tumors. PATIENTS AND METHODS: We report five cases diagnosed over a period of eight years (1997-2004) in the Laboratory of Anatomy and Pathological Cytology of the University Hospital of Sfax. RESULTS: The average age of patients was 20 years old, there were children under 14 years and 4 patients were male. Clinical symptomatology showed the predominance of intra-cranial hypertension syndrome. Radiography through magnetic resonance revealed a heterogeneous tumor process localized respectively on the spine (one case), the insula (one case), the temporofrontal lobes (two cases) and the medulla (one case). Histological examination of the tumors also showed a proliferation of giant cells with a hyaline-based cytoplasmic inclusion. These inclusions were positive for vimentin and keratin. An adjuvant radiotherapy treatment was prescribed for two patients. A recurrence of rhabdoid tumors occurred in two cases. All five patients died within eighteen months. CONCLUSION: The cerebral rhabdoid malignant tumor constitutes one of the most aggressive and life-threatening intracranial tumors. The optimal management of such tumors remains unknown.

[Malignant struma ovarii: a case report]. / Goitre ovarien malin: une observation.

Malignant transformation of struma ovarii is exceptional (less than 1%). The histolological diagnosis of malignancy is difficult especially in the well differentiated forms. Immunohistochemistry is highly contributive in the anaplastic forms. The prognosis is relatively favorable except for the metastatic and undifferentiated forms. We report a case of malignant struma ovarii with metastasis observed in a 65-year-old woman who died rapidly from her disease. In light of this observation, we discuss the diagnositic, management and outcome features of these particular tumors.

[Malignant mesothelioma of the vulva. About one case]. / Mésothéliome malin de la vulve. A propos d'un cas.

Most malignant mesotheliomas are pleural; they rarely occur within the peritoneum and their location in the vulva is exceptional. A case of a malignant mesothelioma of the vulva is reported in a 47-year-old woman. The patient was operated for a tumour of the vulva. The preoperative diagnosis was that of a cyst of the Bartholin's gland or a fibroma. The microscopic and immunohistochemical exam confirmed the diagnosis of a biphasic malignant mesothelioma of the vulva. The computed tomography scan of the chest and the abdomen was normal. A local recurrence of the tumour occurred in spite of the postoperative radiotherapy. Our objective about this particular case is to discuss the clinical and pathologic aspects and the diagnostic problems of this exceptional tumour of the vulva.

[Giant-cell tumor of the patella with lung metastases: a case report]. / Tumeur à cellules géantes de la rotule avec métastases pulmonaires: à propos d'un cas.

Giant-cell tumors are an infrequent clinical, radiological, and pathological entity observed in 5% of primary bone tumors. They generally occur at the epiphysis of long bones, particularly in the knee area but patellar localization seems very rare. Despite their perfectly benign histological aspect, giant-cell tumors may be aggressive, leading to local recurrence or even distant metastasis to the lung. We report a case of benign giant-cell tumor of the patella with lung metastasis observed in a 23-year-old woman. The aggressive radiological image was suggestive of chondrosarcoma. Histologically the differential diagnosis with chondroblastoma was difficult. The tumor and lung metastasis were treated by surgical resection. Four years later there has been no recurrence. We present the anatomic and clinical aspects of giant-cell tumor of the bone together with the diagnostic approach and the clinical course.

[Colonic granulocytic sarcoma: a case report]. / Sarcome granulocytique colique: une observation.

Granulocytic sarcoma is a rare tumor composed of immature cells of the granulocytic series which usually occurs as a secondary manifestation of acute leukaemia. We report the case of a 60 years old woman without particular previous pathologies who was hospitalised for chronic diarrhea developed in a context of health impairment state. The blood cell count revealed severe leucopenia and thrombopenia; an emergency right colectomy was accomplished. The histologic examination showed granulocytic sarcoma of the ascending colon. The death occurred rapidly as a consequence of a toxic shock. This observation seems to be the sixth case report of the granulocytic large bowel sarcoma in the literature which likely complicated a pre-existant and unknown myeloid leukaemia.