Rare Diseases Symptoms Automatic Extraction

Atypical lipomatous tumor with structural rearrangements involving chromosomes 3 and 8.

[well-differentiated liposarcoma]

Atypical lipomatous tumor (ALT) is an intermediate (locally aggressive) mesenchymal neoplasm with the potential to dedifferentiate to higher grades over time. It is cytogenetically characterized by the presence of one or more supernumerary ring and giant marker chromosomes. These abnormal chromosomes invariably contain amplified sequences derived from the 12q14-15 region. We describe a unique cytogenetic finding of ALT arising in the right lower back of a 42-year-old man. Magnetic resonance imaging demonstrated a predominantly fatty mass with irregularly thickened, linear, swirled, and nodular septa. Contrast-enhanced fat-suppressed T1-weighted images showed significant enhancement of the non-adipose areas. A sub-extensive resection was performed. Histologically, the tumor consisted predominantly of mature fat cells with atypical stromal cells and multivacuolated lipoblasts. Immunohistochemically, the tumor cells were positive for p16 (diffuse and strong signal) and cyclin-dependent kinase-4 (focal and weak signal) but negative for murine double-minute 2. Cytogenetic analysis displayed a t(3;8)(q28;q13) translocation as the sole anomaly or concomitant with a few other numerical and structural alterations. There has been no evidence of local recurrence two months after surgery. To the best of our knowledge, this is the first case of ALT with structural aberrations involving chromosomes 3 and 8, associated with an absence of 12q rearrangements.

Diseases presenting "first case" symptom

  • achondroplasia
  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • alpha-thalassemia
  • aniridia
  • aromatase deficiency
  • canavan disease
  • carcinoma of the gallbladder
  • child syndrome
  • cholangiocarcinoma
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • congenital toxoplasmosis
  • cushing syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • fabry disease
  • familial mediterranean fever
  • focal myositis
  • gm1 gangliosidosis
  • harlequin ichthyosis
  • hodgkin lymphoma, classical
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • krabbe disease
  • lamellar ichthyosis
  • legionellosis
  • liposarcoma
  • locked-in syndrome
  • malignant atrophic papulosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • oculocutaneous albinism
  • omenn syndrome
  • papillon-lefèvre syndrome
  • pendred syndrome
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

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